172 results on '"Holland S.M."'
Search Results
2. Disseminated tuberculosis, CMV viraemia & haemophagocytic-lymphohistiocystosis syndrome in an adult patient with anti- IFNγ autoantibodies – case report and brief review
- Author
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Butel-Simoes, G.I., primary, Kiss, C., additional, Kong, K., additional, Rosen, L.B., additional, Hosking, L.M., additional, Barnes, S., additional, Jenkin, G.A., additional, Megaloudis, S., additional, Kumar, B., additional, Holland, S.M., additional, and Ojaimi, S., additional
- Published
- 2023
- Full Text
- View/download PDF
3. Necrotizing Pneumonia in an Adult Woman Due to P40phox (NCF4) Deficiency
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Estrella, A.M., primary, Chester, J.G., additional, Kuhns, D.B., additional, Lau, K.P., additional, Marshall-Batty, K.R., additional, Holland, S.M., additional, Ross, J.E., additional, Murphy, S.O., additional, Aaron, J.G., additional, Salvatore, M.M., additional, Saqi, A., additional, Fuleihan, R.L., additional, and Garcia, C.K., additional
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- 2023
- Full Text
- View/download PDF
4. Nine patients with chronic granulomatous disease having selective neck dissection for severe cervical lymphadenitis
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Wingfield, L.R., Liu, J., Hu, M., Bianchi, D., Hauck, K., Driscoll, B., Gallin, J.I., Malech, H.L., Holland, S.M., and Van Waes, C.
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- 2018
- Full Text
- View/download PDF
5. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients (vol 41, pg 1633, 2021)
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Hashem, H., Bucciol, G., Ozen, S., Unal, S., Bozkaya, I.O., Akarsu, N., Taskinen, M., Koskenvuo, M., Saarela, J., Dimitrova, D., Hickstein, D.D., Hsu, A.P., Holland, S.M., Krance, R., Sasa, G., Kumar, A.R., Muller, I., Sousa, M.A. de, Delafontaine, S., Moens, L., Babor, F., Barzaghi, F., Cicalese, M.P., Bredius, R., Montfrans, J. van, Baretta, V., Cesaro, S., Stepensky, P., Benedicte, N., Moshous, D., Guenno, G. le, Boutboul, D., Dalal, J., Brooks, J.P., Dokmeci, E., Dara, J., Lucas, C.L., Hambleton, S., Wilson, K., Jolles, S., Koc, Y., Gungor, T., Schnider, C., Candotti, F., Steinmann, S., Schulz, A., Chambers, C., Hershfield, M., Ombrello, A., Kanakry, J.A., and Meyts, I.
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- 2022
- Full Text
- View/download PDF
6. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths
- Author
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Bastard, P. Gervais, A. Voyer, T.L. Rosain, J. Philippot, Q. Manry, J. Michailidis, E. Hoffmann, H.-H. Eto, S. Garcia-Prat, M. Bizien, L. Parra-Martínez, A. Yang, R. Haljasmägi, L. Migaud, M. Särekannu, K. Maslovskaja, J. De Prost, N. Tandjaoui-Lambiotte, Y. Luyt, C.-E. Amador-Borrero, B. Gaudet, A. Poissy, J. Morel, P. Richard, P. Cognasse, F. Troya, J. Trouillet-Assant, S. Belot, A. Saker, K. Garçon, P. Rivière, J.G. Lagier, J.-C. Gentile, S. Rosen, L.B. Shaw, E. Morio, T. Tanaka, J. Dalmau, D. Tharaux, P.-L. Sene, D. Stepanian, A. Megarbane, B. Triantafyllia, V. Fekkar, A. Heath, J.R. Franco, J.L. Anaya, J.-M. Solé-Violán, J. Imberti, L. Biondi, A. Bonfanti, P. Castagnoli, R. Delmonte, O.M. Zhang, Y. Snow, A.L. Holland, S.M. Biggs, C.M. Moncada-Vélez, M. Arias, A.A. Lorenzo, L. Boucherit, S. Coulibaly, B. Anglicheau, D. Planas, A.M. Haerynck, F. Duvlis, S. Nussbaum, R.L. Ozcelik, T. Keles, S. Bousfiha, A.A. El Bakkouri, J. Ramirez-Santana, C. Paul, S. Pan-Hammarström, Q. Hammarström, L. Dupont, A. Kurolap, A. Metz, C.N. Aiuti, A. Casari, G. Lampasona, V. Ciceri, F. Barreiros, L.A. Dominguez-Garrido, E. Vidigal, M. Zatz, M. Van De Beek, D. Sahanic, S. Tancevski, I. Stepanovskyy, Y. Boyarchuk, O. Nukui, Y. Tsumura, M. Vidaur, L. Tangye, S.G. Burrel, S. Duffy, D. Quintana-Murci, L. Klocperk, A. Kann, N.Y. Shcherbina, A. Lau, Y.-L. Leung, D. Coulongeat, M. Marlet, J. Koning, R. Reyes, L.F. Chauvineau-Grenier, A. Venet, F. Monneret, G. Nussenzweig, M.C. Arrestier, R. Boudhabhay, I. Baris-Feldman, H. Hagin, D. Wauters, J. Meyts, I. Dyer, A.H. Kennelly, S.P. Bourke, N.M. Halwani, R. Sharif-Askari, N.S. Dorgham, K. Sallette, J. Sedkaoui, S.M. AlKhater, S. Rigo-Bonnin, R. Morandeira, F. Roussel, L. Vinh, D.C. Ostrowski, S.R. Condino-Neto, A. Prando, C. Bondarenko, A. Spaan, A.N. Gilardin, L. Fellay, J. Lyonnet, S. Bilguvar, K. Lifton, R.P. Mane, S. Anderson, M.S. Boisson, B. Béziat, V. Zhang, S.-Y. Andreakos, E. Hermine, O. Pujol, A. Peterson, P. Mogensen, T.H. Rowen, L. Mond, J. Debette, S. De Lamballerie, X. Duval, X. Mentré, F. Zins, M. Soler-Palacin, P. Colobran, R. Gorochov, G. Solanich, X. Susen, S. Martinez-Picado, J. Raoult, D. Vasse, M. Gregersen, P.K. Piemonti, L. Rodríguez-Gallego, C. Notarangelo, L.D. Su, H.C. Kisand, K. Okada, S. Puel, A. Jouanguy, E. Rice, C.M. Tiberghien, P. Zhang, Q. Cobat, A. Abel, L. Casanova, J.-L. Alavoine, L. Behillil, S. Burdet, C. Charpentier, C. Dechanet, A. Descamps, D. Ecobichon, J.-L. Enouf, V. Frezouls, W. Houhou, N. Kafif, O. Lehacaut, J. Letrou, S. Lina, B. Lucet, J.-C. Manchon, P. Nouroudine, M. Piquard, V. Quintin, C. Thy, M. Tubiana, S. Van Der Werf, S. Vignali, V. Visseaux, B. Yazdanpanah, Y. Chahine, A. Waucquier, N. Migaud, M.-C. Deplanque, D. Djossou, F. Mergeay-Fabre, M. Lucarelli, A. Demar, M. Bruneau, L. Gerardin, P. Maillot, A. Payet, C. Laviolle, B. Laine, F. Paris, C. Desille-Dugast, M. Fouchard, J. Malvy, D. Nguyen, D. Pistone, T. Perreau, P. Gissot, V. Le Goas, C. Montagne, S. Richard, L. Chirouze, C. Bouiller, K. Desmarets, M. Meunier, A. Lefevre, B. Jeulin, H. Legrand, K. Lomazzi, S. Tardy, B. Gagneux-Brunon, A. Bertholon, F. Botelho-Nevers, E. Christelle, K. Nicolas, L. Roufai, L. Amat, K. Couffin-Cadiergues, S. Esperou, H. Hendou, S. Townsend, L. Cheallaigh, C.N. Bergin, C. Martin-Loeches, I. Dunne, J. Conlon, N. O'Farrelly, C. Abad, J. Accordino, G. Achille, C. Aguilera-Albesa, S. Aguilo-Cucurull, A. Ozkan, E.A. Darazam, I.A. Albisures, J.A.R. Aldave, J.C. Ramos, M.A. Khan, T.A. Aliberti, A. Nadji, S.A. Alkan, G. AlKhater, S.A. Allardet-Servent, J. Allende, L.M. Alonso-Arias, R. Alshahrani, M.S. Alsina, L. Alyanakian, M.-A. Borrero, B.A. Amoura, Z. Antoli, A. Aubart, M. Auguet, T. Avramenko, I. Aytekin, G. Azot, A. Bahram, S. Bajolle, F. Baldanti, F. Baldolli, A. Ballester, M. Feldman, H.B. Barrou, B. Barzaghi, F. Basso, S. Bayhan, G.I. Bezrodnik, L. Bilbao, A. Blanchard-Rohner, G. Blanco, I. Blandinieres, A. Blazquez-Gamero, D. Bleibtreu, A. Bloomfield, M. Bolivar-Prados, M. Borghesi, A. Borie, R. Botdhlo-Nevers, E. Bousquet, A. Boutolleau, D. Bouvattier, C. Bravais, J. Briones, M.L. Brunner, M.-E. Bruno, R. Bueno, M.R.P. Bukhari, H. Bustamante, J. Agra, J.J.C. Capra, R. Carapito, R. Carrabba, M. Casasnovas, C. Caseris, M. Cassaniti, I. Castelle, M. Castelli, F. De Vera, M.C. Castro, M.V. Catherinot, E. Celik, J.B. Ceschi, A. Chalumeau, M. Charbit, B. Cheng, M.P. Clave, P. Clotet, B. Codina, A. Cohen, Y. Comarmond, C. Combes, A. Comoli, P. Corsico, A.G. Coşkuner, T. Cvetkovski, A. Cyrus, C. Danion, F. Darley, D.R. Das, V. Dauby, N. Dauger, S. De Munter, P. De Pontual, L. Dehban, A. Delplancq, G. Demoule, A. Desguerre, I. Di Sabatino, A. Diehl, J.-L. Dobbelaere, S. Dubost, C. Ekwall, O. Bozdemir, Ş.E. Elnagdy, M.H. Emiroglu, M. Endo, A. Erdeniz, E.H. Aytekin, S.E. Lasa, M.P.E. Euvrard, R. Fabio, G. Faivre, L. Falck, A. Fartoukh, M. Faure, M. Arquero, M.F. Ferrer, R. Ferreres, J. Flores, C. Francois, B. Fumado, V. Fung, K.S.C. Fusco, F. Gagro, A. Solis, B.G. Gaussem, P. Gayretli, Z. Gil-Herrera, J. Gatineau, A.G. Girona-Alarcon, M. Godinez, K.A.C. Goffard, J.-C. Gonzales, N. Gonzalez-Granado, L.I. Gonzalez-Montelongo, R. Guerder, A. Gulhan, B. Gumucio, V.D. Hanitsch, L.G. Gunst, J. Gut, M. Hadjadj, J. Hancerli, S. Hariyan, T. Hatipoglu, N. Heppekcan, D. Hernandez-Brito, E. Ho, P.-K. Holanda-Pena, M.S. Horcajada, J.P. Hraiech, S. Humbert, L. Hung, I.F.N. Iglesias, A.D. Inigo-Campos, A. Jamme, M. Arranz, M.J. Jimeno, M.-T. Jordan, I. Kanik-Yuksek, S. Kara, Y.B. Karahan, A. Karbuz, A. Yasar, K.K. Kasapcopur, O. Kashimada, K. Demirkol, Y.K. Kido, Y. Kizil, C. Kilic, A.O. Koutsoukou, A. Krol, Z.J. Ksouri, H. Kuentz, P. Kwan, A.M.C. Kwan, Y.W.M. Kwok, J.S.Y. Lam, D.S.Y. Lampropoulou, V. Lanternier, F. Le Bourgeois, F. Leo, Y.-S. Lopez, R.L. Levin, M. Levy, M. Levy, R. Li, Z. Lilleri, D. Lima, E.J.A.B. Linglart, A. Lopez-Collazo, E. Lorenzo-Salazar, J.M. Louapre, C. Lubetzki, C. Lung, K.-C. Lye, D.C. Magnone, C. Mansouri, D. Marchioni, E. Marioli, C. Marjani, M. Marques, L. Pereira, J.M. Martin-Nalda, A. Pueyo, D.M. Marzana, I. Mata-Martinez, C. Mathian, A. Matos, L.R.B. Matthews, G.V. Mayaux, J. McLaughlin-Garcia, R. Meersseman, P. Mege, J.-L. Mekontso-Dessap, A. Melki, I. Meloni, F. Meritet, J.-F. Merlani, P. Akcan, O.M. Mezidi, M. Migeotte, I. Millereux, M. Million, M. Mirault, T. Mircher, C. Mirsaeidi, M. Mizoguchi, Y. Modi, B.P. Mojoli, F. Moncomble, E. Melian, A.M. Martinez, A.M. Morange, P.-E. Mordacq, C. Morelle, G. Mouly, S.J. Munoz-Barrera, A. Nafati, C. Nagashima, S. Nakagama, Y. Neven, B. Neves, J.F. Ng, L.F.P. Ng, Y.-Y. Nielly, H. Medina, Y.N. Cuadros, E.N. Ocejo-Vinyals, J.G. Okamoto, K. Oualha, M. Ouedrani, A. Ozkaya-Parlakay, A. Pagani, M. Papadaki, M. Parizot, C. Parola, P. Pascreau, T. Paz-Artal, E. Pedraza, S. Pellecer, N.C.G. Pellegrini, S. De Diego, R.P. Perez-Fernandez, X.L. Philippe, A. Picod, A. De Chambrun, M.P. Piralla, A. Planas-Serra, L. Ploin, D. Poncelet, G. Poulakou, G. Pouletty, M.S. Pourshahnazari, P. Qiu-Chen, J.L. Quentric, P. Rambaud, T. Raoult, V. Rebillat, A.-S. Redin, C. Resmini, L. Ricart, P. Richard, J.-C. Rivet, N. Rocamora-Blanch, G. Rodero, M.P. Rodrigo, C. Rodriguez, L.A. Rodriguez-Palmero, A. Romero, C.S. Rothenbuhler, A. Roux, D. Rovina, N. Rozenberg, F. Ruch, Y. Ruiz, M. Del Prado, M.Y.R. Ruiz-Rodriguez, J.C. Sabater-Riera, J. Saks, K. Salagianni, M. Sanchez, O. Sanchez-Montalva, A. Sanchez-Ramon, S. Schidlowski, L. Schluter, A. Schmidt, J. Schmidt, M. Schuetz, C. Schweitzer, C.E. Scolari, F. Sediva, A. Seijo, L. Seminario, A.G. Seng, P. Senoglu, S. Seppanen, M. Llovich, A.S. Shahrooei, M. Siguret, V. Siouti, E. Smadja, D.M. Smith, N. Sobh, A. Soler, C. Sozeri, B. Stella, G.M. Stepanovskiy, Y. Stoclin, A. Taccone, F. Taupin, J.-L. Tavernier, S.J. Terrier, B. Thiery, G. Thorball, C. Thorn, K. Thumerelle, C. Tipu, I. Tolstrup, M. Tomasoni, G. Toubiana, J. Alvarez, J.T. Tsang, O.T.Y. Tserel, L. Tso, E.Y.K. Tucci, A. Oz, Ş.K.T. Ursini, M.V. Utsumi, T. Uzunhan, Y. Vabres, P. Valencia-Ramos, J. Van Den Rym, A.M. Vandernoot, I. Velez-Santamaria, V. Veliz, S.P.Z. Vidigal, M.C. Viel, S. Vilain, C. Vilaire-Meunier, M.E. Villar-Garcia, J. Vincent, A. Vogt, G. Voiriot, G. Volokha, A. Vuotto, F. Wauters, E. Wu, A.K.L. Wu, T.-C. Yahşi, A. Yesilbas, O. Yildiz, M. Young, B.E. Yukselmiş, U. Zecca, M. Zuccaro, V. Van Praet, J. Lambrecht, B.N. Van Braeckel, E. Bosteels, C. Hoste, L. Hoste, E. Bauters, F. De Clercq, J. Heijmans, C. Slabbynck, H. Naesens, L. Florkin, B. Boulanger, C. Vanderlinden, D. Allavena, C. Andrejak, C. Angoulvant, F. Azoulay, C. Bachelet, D. Bartoli, M. Basmaci, R. Behillill, S. Beluze, M. Benech, N. Benkerrou, D. Bhavsar, K. Bitker, L. Bouadma, L. Bouscambert-Duchamp, M. Paz, P.C. Cervantes-Gonzalez, M. Chair, A. Coelho, A. Cordel, H. Couffignal, C. D'Ortenzio, E. De Montmollin, E. Debard, A. Debray, M.-P. Desvallee, M. Diallo, A. Diouf, A. Dorival, C. Dubos, F. Eloy, P. Epaulard, O. Esposito-Farase, M. Etienne, M. Garot, D. Gault, N. Gaymard, A. Ghosn, J. Gigante, T. Gilg, M. Goehringer, F. Guedj, J. Hoctin, A. Hoffmann, I. Houas, I. Hulot, J.-S. Jaafoura, S. Kaguelidou, F. Kali, S. Kerroumi, Y. Khalil, A. Khan, C. Kimmoun, A. Laouenan, C. Laribi, S. Le, M. Le Bris, C. Le Gac, S. Le Hingrat, Q. Le Mestre, S. Le Nagard, H. Lemaignen, A. Lemee, V. Lescure, F.-X. Levy, Y. Lingas, G. Lucet, J.C. MacHado, M. Mambert, M. Manuel, A. Meziane, A. Mouquet, H. Mullaert, J. Neant, N. Noret, M. Papadopoulos, A. Paul, C. Peiffer-Smadja, N. Peigne, V. Petrov-Sanchez, V. Peytavin, G. Pham, H. Picone, O. Puechal, O. Rosa-Calatrava, M. Rossignol, B. Rossignol, P. Roy, C. Schneider, M. Su, R. Tardivon, C. Tellier, M.-C. Teoule, F. Terrier, O. Timsit, J.F. Tual, C. Vanel, N. Veislinger, A. Wiedemann, A. Danielson, J.J. Dobbs, K. Kashyap, A. Ding, L. Dalgard, C.L. Sottini, A. Quaresima, V. Quiros-Roldan, E. Rossi, C. Bettini, L.R. D'Angio, M. Beretta, I. Montagna, D. Licari, A. Marseglia, G.L. Storgaard, M. Jorgensen, S. Al-Muhsen, S. Al-Mulla, F. Arias, A.A. Bogunovic, D. Bolze, A. Brodin, P. Bryceson, Y. Bustamante, C.D. Butte, M.J. Chakravorty, S. Christodoulou, J. Constantinescu, S.N. Cooper, M.A. Desai, M. Drolet, B.A. El Baghdadi, J. Espinosa-Padilla, S. Froidure, A. Henrickson, S.E. Hsieh, E.W.Y. Husebye, E.S. Imai, K. Itan, Y. Jarvis, E.D. Karamitros, T. Ku, C.-L. Ling, Y. Lucas, C.L. Maniatis, T. Marodi, L. Milner, J.D. Mironska, K. Novelli, A. Novelli, G. Renia, L. Resnick, I. Sancho-Shimizu, V. Seppanen, M.R.J. Shahrooei, M. Slaby, O. Tayoun, A.A. Ramaswamy, S. Turvey, S.E. Furkan Uddin, K.M. Uddin, M.J. Von Bernuth, H. Zawadzki, P. Bigio, B. De La Chapelle, A. Chen, J. Chrabieh, M. Liu, D. Nemirowskaya, Y. Cruz, I.M. Materna, M. Pelet, S. Seeleuthner, Y. Thibault, C. Liu, Z. Foti, G. Bellani, G. Citerio, G. Contro, E. Pesci, A. Valsecchi, M.G. Cazzaniga, M. Batten, I. Reddy, C. McElheron, M. Noonan, C. Connolly, E. Fallon, A. Erikstrup, C. Pedersen, O.B. Sorensen, E. Mikkelsen, S. Dinh, K.M. Larsen, M.A.H. Paulsen, I.W. Von Stemann, J.H. Hansen, M.B. Annereau, J.-P. Briseno-Roa, L. Gribouval, O. Pelet, A. Alcover, A. Aschard, H. Bousso, P. Bruhns, P. Cerf-Bensussan, N. Cumano, A. D'Enfert, C. Deriano, L. Dillies, M.-A. Di Santo, J. Dromer, F. Eberl, G. Enninga, J. Gomperts-Boneca, I. Hasan, M. Hedestam, G.K. Hercberg, S. Ingersoll, M.A. Lantz, O. Kenny, R.A. Menager, M. Michel, F. Patin, E. Pellegrini, S. Rausell, A. Rieux-Laucat, F. Rogge, L. Fontes, M. Sakuntabhai, A. Schwartz, O. Schwikowski, B. Shorte, S. Tangy, F. Toubert, A. Touvier, M. Ungeheuer, M.-N. Zimmer, C. Albert, M.L. Van Agtmael, M. Algera, A.G. Appelman, B. Van Baarle, F. Bax, D. Beudel, M. Bogaard, H.J. Bomers, M. Bonta, P. Bos, L. Botta, M. De Brabander, J. De Bree, G. De Bruin, S. Buis, D.T.P. Bugiani, M. Bulle, E. Chouchane, O. Cloherty, A. Dijkstra, M. Dongelmans, D.A. Dujardin, R.W.G. Elbers, P. Fleuren, L. Geerlings, S. Geijtenbeek, T. Girbes, A. Goorhuis, B. Grobusch, M.P. Hafkamp, F. Hagens, L. Hamann, J. Harris, V. Hemke, R. Hermans, S.M. Heunks, L. Hollmann, M. Horn, J. Hovius, J.W. De Jong, M.D. Lim, E.H.T. Van Mourik, N. Nellen, J. Nossent, E.J. Paulus, F. Peters, E. Pina-Fuentes, D.A.I. Van Der Poll, T. Preckel, B. Prins, J.M. Raasveld, J. Reijnders, T. De Rotte, M.C.F.J. Schinkel, M. Schultz, M.J. Schrauwen, F.A.P. Schuurman, A. Schuurmans, J. Sigaloff, K. Slim, M.A. Smeele, P. Smit, M. Stijnis, C.S. Stilma, W. Teunissen, C. Thoral, P. Tsonas, A.M. Tuinman, P.R. Van Der Valk, M. Veelo, D. Volleman, C. De Vries, H. Vught, L.A. Van Vugt, M. Wouters, D. Zwinderman, A.H. Brouwer, M.C. Joost Wiersinga, W. Vlaar, A.P.J. Nadif, R. Goldberg, M. Ozguler, A. Henny, J. Lemonnier, S. Coeuret-Pellicer, M. Le Got, S. Tzourio, C. Dufouil, C. Soumare, A. Lachaize, M. Fievet, N. Flaig, A. Martin, F. Bonneaudeau, B. Cannet, D. Gallian, P. Jeanne, M. Perroquin, M. Hamzeh-Cognasse, H. CoV-Contact Cohort St James's Hospital, SARS CoV2 Interest group COVID Clinicians French COVID Cohort Study Group NIAID Immune Response to COVID Group Danish CHGE COVID Human Genetic Effort HGID Lab COVID-STORM Clinicians NH-COVAIR Study Group The Danish Blood Donor Study (DBDS) Imagine COVID-Group The Milieu Interieur Consortium Amsterdam UMC Covid-19 Biobank CONSTANCES cohort 3C-Dijon Study Cerba HealthCare Etablissement du Sang study group
- Abstract
Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma diluted 1:10) of IFN-α and/or IFN-ω are found in about 10% of patients with critical COVID-19 (coronavirus disease 2019) pneumonia but not in individuals with asymptomatic infections. We detect auto-Abs neutralizing 100-fold lower, more physiological, concentrations of IFN-α and/or IFN-ω (100 pg/ml; in 1:10 dilutions of plasma) in 13.6% of 3595 patients with critical COVID-19, including 21% of 374 patients >80 years, and 6.5% of 522 patients with severe COVID-19. These antibodies are also detected in 18% of the 1124 deceased patients (aged 20 days to 99 years; mean: 70 years). Moreover, another 1.3% of patients with critical COVID-19 and 0.9% of the deceased patients have auto-Abs neutralizing high concentrations of IFN-β. We also show, in a sample of 34,159 uninfected individuals from the general population, that auto-Abs neutralizing high concentrations of IFN-α and/or IFN-ω are present in 0.18% of individuals between 18 and 69 years, 1.1% between 70 and 79 years, and 3.4% >80 years. Moreover, the proportion of individuals carrying auto-Abs neutralizing lower concentrations is greater in a subsample of 10,778 uninfected individuals: 1% of individuals 80 years. By contrast, auto-Abs neutralizing IFN-β do not become more frequent with age. Auto-Abs neutralizing type I IFNs predate SARS-CoV-2 infection and sharply increase in prevalence after the age of 70 years. They account for about 20% of both critical COVID-19 cases in the over 80s and total fatal COVID-19 cases. © 2021 The Authors, some rights reserved.
- Published
- 2021
7. Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-γ-dependent signaling
- Author
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Haverkamp, M.H., van Dissel, J.T., and Holland, S.M.
- Published
- 2006
- Full Text
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8. Host Genetic Analysis of Pulmonary NTM Disease and Non-CF Bronchietasis
- Author
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Namkoong, H., primary, Omae, Y., additional, Asakura, T., additional, Ishii, M., additional, Suzuki, S., additional, Morimoto, K., additional, Yoshida, M., additional, Emoto, K., additional, Oler, A.J., additional, Szymanski, E.P., additional, Matsuda, S., additional, Yagi, K., additional, Hase, I., additional, Nishimura, T., additional, Sasaki, Y., additional, Asami, T., additional, Shiomi, T., additional, Matsubara, H., additional, Shimada, H., additional, Hamamoto, J., additional, Jhun, B., additional, Kim, S.-Y., additional, Huh, H.J., additional, Won, H.-H., additional, Daniels, L.A., additional, Zariwala, M., additional, Dang, H., additional, Ato, M., additional, Kosaki, K., additional, Kurashima, A., additional, Tettelin, H., additional, Yanai, H., additional, Mahasirimongkol, S., additional, Knowles, M.R., additional, Olivier, K.N., additional, Hoshino, Y., additional, Koh, W.-J., additional, Holland, S.M., additional, Tokunaga, K., additional, and Hasegawa, N., additional
- Published
- 2020
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9. Autoantibodies against type I IFNs in patients with life-threatening COVID-19
- Author
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Bastard, P., Zhang, Q., Michailidis, E., Hoffmann, H.H., Zhang, Y., Dorgham, Karim, Philippot, Q., Rosain, J., Béziat, V., Manry, J., Shaw, E., Haljasmägi, L., Peterson, P., Lorenzo, L., Bizien, L., Trouillet-Assant, S., Dobbs, K., de Jesus, A.A., Belot, A., Kallaste, A., Catherinot, E., Tandjaoui-Lambiotte, Y., Le Pen, J., Kerner, G., Bigio, B., Seeleuthner, Y., Yang, R., Bolze, A., Spaan, A.N., Delmonte, O.M., Abers, M.S., Aiuti, A., Casari, G., Lampasona, V., Piemonti, L., Ciceri, F., Bilguvar, K., Lifton, R.P., Vasse, M., Smadja, D.M., Migaud, M., Hadjadj, J., Terrier, B., Duffy, D., Quintana-Murci, L., van de Beek, D., Roussel, L., Vinh, D.C., Tangye, S., Haerynck, F., Dalmau, D., Martinez-Picado, J., Brodin, P., Nussenzweig, M.C., Boisson-Dupuis, S., Rodríguez-Gallego, C., Vogt, G., Mogensen, T.H., Oler, A.J., Gu, J., Burbelo, P.D., Cohen, J.I., Biondi, A., Bettini, L.R., DÁngio, M., Bonfanti, P., Rossignol, P., Mayaux, J., Rieux-Laucat, F., Husebye, E.S., Fusco, F., Ursini, M.V., Imberti, L., Sottini, A., Paghera, S., Quiros-Roldan, E., Rossi, C., Castagnoli, R., Montagna, D., Licari, A., Marseglia, G.L., Duval, X., Ghosn, J., Tsang, J.S., Goldbach-Mansky, R., Kisand, K., Lionakis, M.S., Puel, A., Zhang, S.Y., Holland, S.M., Gorochov, G., Jouanguy, E., Rice, C.M., Cobat, A., Notarangelo, L.D., Abel, L., Su, H.C., Casanova, J.L., Arias, A.A., Boisson, B., Boucherit, S., Bustamante, J., Chbihi, M., Chen, J., Chrabieh, M., Kochetkov, T., Le Voyer, T., Liu, D., Nemirovskaya, Y., Ogishi, M., Papandrea, D., Patissier, C., Rapaport, F., Roynard, M., Vladikine, N., Woollett, M., Zhang, P., Kashyap, A., Ding, L., Bosticardo, M., Wang, Q., Ochoa, S., Liu, H., Chauvin, S.D., Stack, M., Koroleva, G., Bansal, N., Dalgard, C.L., Snow, A.L., Abad Capa, Jorge, Aguilera-Albesa, S., Akcan, O.M., Darazam, I.A., Aldave, J.C., Ramos, M.A., Nadji, S.A., Alkan, G., Allardet-Servent, J., Allende, L.M., Alsina, L., Alyanakian, M.A., Amador-Borrero, B., Amoura, Z., Antolí, A., Arslan, S., Assant, S., Auguet, T., Azot, A., Bajolle, F., Baldolli, A., Ballester, M., Feldman, H.B., Barrou, B., Beurton, A., Bilbao, A., Blanchard-Rohner, G., Blanco, I., Blandinières, A., Blazquez-Gamero, D., Bloomfield, M., Bolivar-Prados, Mireia, Borie, R., Bousfiha, A.A., Bouvattier, C., Boyarchuk, O., Bueno, M.R.P., Agra, J.J.C., Calimli, S., Capra, R., Carrabba, M., Casasnovas, Carlos, Caseris, M., Castelle, M., Castelli, F., de Vera, M.C., Castro, M.V., Chalumeau, M., Charbit, B., Cheng, M.P., Clavé, P., Clotet, B., Codina, A., Colkesen, F., Colobrán Oriol, Roger, Comarmond, C., Corsico, A.G., Darley, D.R., Dauby, N., Dauger, S., de Pontual, L., Dehban, A., Delplancq, G., Demoule, A., Di Sabatino, A., Diehl, J.L., Dobbelaere, S., Durand, S., Eldars, W., Elgamal, M., Elnagdy, M.H., Emiroglu, M., Erdeniz, E.H., Aytekin, S.E., Euvrard, R., Evcen, R., Fabio, G., Faivre, L., Falck, A., Fartoukh, M., Faure, M., Arquero, M.F., Flores, Carlos, Francois, B., Fumadó, V., Solis, B.G., Gaussem, P., Gil-Herrera, J., Gilardin, L., Alarcon, M.G., Girona-Alarcón, M., Goffard, J.C., Gok, F., González-Montelongo, R., Guerder, A., Gul, Y., Guner, S.N., Gut, M., Halwani, R., Hammarström, L., Hatipoglu, N., Hernandez-Brito, E., Holanda-Peña, M.S., Horcajada, J.P., Hraiech, S., Humbert, L., Iglesias, A.D., Íñigo-Campos, A., Jamme, M., Arranz, M.J., Jordan, I., Kanat, F., Kapakli, H., Kara, I., Karbuz, A., Yasar, K.K., Keles, S., Demirkol, Y.K., Klocperk, A., Król, Z.J., Kuentz, P., Kwan, Y.W.M., Lagier, J.C., Lau, Y.L., Le Bourgeois, F., Leo, Y.S., Lopez, R.L., Leung, D., Levin, M., Levy, M., Lévy, R., Li, Z., Linglart, A., Lorenzo-Salazar, J.M., Louapre, C., Lubetzki, C., Luyt, C.E., Lye, D.C., Mansouri, D., Marjani, M., Pereira, J.M., Martin, A., Pueyo, D.M., Marzana, I., Mathian, A., Matos, L.R.B., Matthews, G.V., Mège, J.L., Melki, I., Meritet, J.F., Metin, O., Meyts, I., Mezidi, M., Migeotte, I., Millereux, M., Mirault, T., Mircher, C., Mirsaeidi, M., Melián, A.M., Martinez, A.M., Morange, P., Mordacq, C., Morelle, G., Mouly, S., Muñoz-Barrera, A., Nafati, C., Neves, J.F., Ng, L.F.P., Medina, Y.N., Cuadros, E.N., Gonzalo Ocejo-Vinyals, J., Orbak, Z., Oualha, M., Ozcelik, T., Hammarström, Q.P., Parizot, C., Pascreau, T., Paz-Artal, E., de Diego, R.P., Philippe, A., Philippota, Q., Planas-Serra, L., Ploin, D., Poissy, J., Poncelet, G., Pouletty, M., Quentric, P., Raoult, D., Rebillat, A.S., Reisli, I., Ricart, P., Richard, J.C., Rivet, N., Rivière, J.G., Blanch, G.R., Rodrigo, C., Rodriguez-Gallego, C., Rodríguez-Palmero, A., Romero, C.S., Rothenbuhler, A., Rozenberg, F., del Prado, M.Y.R., Riera, J.S., Sanchez, O., Sánchez-Ramón, S., Schluter, A., Schmidt, M., Schweitzer, C.E., Scolari, F., Sediva, A., Seijo, L.M., Sene, D., Senoglu, S., Seppänen, M.R.J., Ilovich, A.S., Shahrooei, M., Smadja, D., Sobh, A., Moreno, X.S., Solé-Violán, J., Soler, C., Soler-Palacín, P., Stepanovskiy, Y., Stoclin, A., Taccone, F., Tandjaoui-Lambiottea, Y., Taupin, J.L., Tavernier, S.J., Thumerelle, C., Tomasoni, G., Toubiana, J., Alvarez, J.T., Trouillet-Assanta, S., Troya, J., Tucci, A., Uzunhan, Y., Vabres, P., Valencia-Ramos, J., van Den Rym, A.M., Vandernoot, I., Vatansev, H., Vélez-Santamaria, V., Viel, S., Vilain, C., Vilaire, M.E., Vincent, A., Voiriot, G., Vuotto, F., Yosunkaya, A., Young, B.E., Yucel, F., Zannad, F., Zatz, M., Belota, A., Foti, Giuseppe, Bellani, G., Citerio, G., Contro, E., Pesci, A., Valsecchi, M.G., Cazzaniga, M., Bole-Feysot, C., Lyonnet, S., Masson, C., Nitschke, P., Pouliet, A., Schmitt, Y., Tores, F., Zarhrate, M., Abela, L., Andrejak, C., Angoulvant, F., Bachelet, D., Basmaci, R., Behillil, S., Beluze, M., Benkerrou, D., Bhavsar, K., Bompart, F., Bouadma, L., Bouscambert, M., Caralp, M., Cervantes-Gonzalez, M., Chair, A., Coelho, A., Couffignal, C., Couffin-Cadiergues, S., D'ortenzio, E., da Silveira, C., Debray, M.P., Deplanque, D., Descamps, D., Desvallées, M., Diallo, A., Diouf, A., Dorival, C., Dubos, F., Eloy, P., Enouf, V.V.E., Espérou, H., Esposito-Farese, M., Etienne, M., Ettalhaoui, N., Gault, N., Gaymard, A., Gigante, T., Gorenne, I., Guedj, J., Hoctin, A., Hoffmann, I., Jaafoura, S., Kafif, O., Kaguelidou, F., Kali, S., Khalil, A., Khan, C., Laouénan, C., Laribi, S., Le, M., Le Hingrat, Q., Le Mestre, S., Le Nagard, H., Lescure, F.X., Lévy, Y., Levy-Marchal, C., Lina, B., Lingas, G., Lucet, J.C., Malvy, D., Mambert, M., Mentré, F., Mercier, N., Meziane, A., Mouquet, H., Mullaert, J., Neant, N., Noret, M., Pages, J., Papadopoulos, A., Paul, C., Peiffer-Smadja, N., Petrov-Sanchez, V., Peytavin, G., Picone, O., Puéchal, O., Rosa-Calatrava, M., Rossignol, B., Roy, C., Schneider, M., Semaille, C., Mohammed, N.S., Tagherset, L., Tardivon, C., Tellier, M.C., Téoulé, F., Terrier, O., Timsit, J.F., Treoux, T., Tual, C., Tubiana, S., van der Werf, S., Vanel, N., Veislinger, A., Visseaux, B., Wiedemann, A., Yazdanpanah, Y., Abelc, L., Alcover, A., Aschard, H., Astrom, K., Bousso, P., Bruhns, P., Cumano, A., Demangel, C., Deriano, L., Santo, J.D., Dromer, F., Eberl, G., Enninga, J., Fellay, Jacques, Gomperts-Boneca, I., Hasan, M., Hercberg, S., Lantz, O., Patin, E., Pellegrini, S., Pol, S., Rausell, A., Rogge, L., Sakuntabhai, A., Schwartz, O., Schwikowski, B., Shorte, S., Tangy, F., Toubert, A., Touvier, M., Ungeheuer, M.N., Albert, M.L., Alavoine, L., Amat, K.K.A., Bielicki, J., Bruijning, P., Burdet, C., Caumes, E., Charpentier, C., Coignard, B., Costa, Y., Damond, F., Dechanet, A., Delmas, C., Ecobichon, J.L., Enouf, V., Frezouls, W., Houhou, N., Ilic-Habensus, E., Kikoine, J., Lebeaux, D., Leclercq, A., Lehacaut, J., Letrou, S., Manchon, P., Mandic, M., Meghadecha, M., Motiejunaite, J., Nouroudine, M., Piquard, V., Postolache, A., Quintin, C., Rexach, J., Roufai, L., Terzian, Z., Thy, M., Vignali, V., van Agtmael, M., Algera, A.G., van Baarle, F., Bax, D., Beudel, M., Bogaard, H.J., Bomers, M., Bos, Lieuwe D, Botta, M., de Brabander, J., Bree, G., Brouwer, M.C., de Bruin, S., Bugiani, M., Bulle, E., Chouchane, O., Cloherty, A., Elbers, P., Fleuren, L., Geerlings, S., Geerts, B., Geijtenbeek, T., Girbes, A., Goorhuis, B., Grobusch, M.P., Hafkamp, F., Hagens, L., Hamann, J., Harris, V., Hemke, R., Hermans, S.M., Heunks, L., Hollmann, M.W., Horn, J., Hovius, J.W., de Jong, M.D., Koning, R., van Mourik, N., Nellen, J., Paulus, F., Peters, E., van der Poll, T., Preckel, B., Prins, J.M., Raasveld, J., Reijnders, T., Schinkel, M., Schultz, M.J., Schuurman, A., Sigaloff, K., Smit, M., Stijnis, C.S., Stilma, Willemke, Teunissen, C., Thoral, P., Tsonas, A., van der Valk, M., Veelo, D., Vlaar, A.P.J., de Vries, H., van Vugt, M., Joost Wiersinga, W., Wouters, D., Zwinderman, A.H., Abelb, L., Iuti, F., Muhsen, S.A., Al-Mulla, F., Anderson, M.S., Bogunovic, D., Bondarenko, A., Bryceson, Y., Bustamante, C.D., Butte, M., Chakravorty, S., Christodoulou, J., Cirulli, E., Condino-Neto, A., Cooper, M.A., DeRisi, J.L., Desai, M., Drolet, B.A., Espinosa, S., Franco, J.L., Gregersen, P.K., Hagin, D., Heath, J., Henrickson, S.E., Hsieh, E., Imai, K., Itan, Y., Karamitros, T., Kisanda, K., Ku, C.L., Ling, Y., Lucas, C.L., Maniatis, T., Marodi, L., Milner, J.D., Mironska, K., Morio, T., Notarangeloa, L.D., Novelli, G., Novelli, A., O'Farrelly, C., Okada, S., Planas, A.M., Prando, C., Pujol, A., Renia, L., Renieri, A., Sancho-Shimizu, V., Sankaran, V., Barrett, K.S., Snow, A., Turvey, S., Uddin, F., Uddin, M.J., Vazquez, S.E., von Bernuth, H., Washington, N., Zawadzki, P., Sua, H.C., Casanovaa, J.L., Rosen, L.B., Universitat Autònoma de Barcelona, Bastard, P., Zhang, Q., Michailidis, E., Hoffmann, H.H., Zhang, Y., Dorgham, Karim, Philippot, Q., Rosain, J., Béziat, V., Manry, J., Shaw, E., Haljasmägi, L., Peterson, P., Lorenzo, L., Bizien, L., Trouillet-Assant, S., Dobbs, K., de Jesus, A.A., Belot, A., Kallaste, A., Catherinot, E., Tandjaoui-Lambiotte, Y., Le Pen, J., Kerner, G., Bigio, B., Seeleuthner, Y., Yang, R., Bolze, A., Spaan, A.N., 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G., Citerio, G., Contro, E., Pesci, A., Valsecchi, M.G., Cazzaniga, M., Bole-Feysot, C., Lyonnet, S., Masson, C., Nitschke, P., Pouliet, A., Schmitt, Y., Tores, F., Zarhrate, M., Abela, L., Andrejak, C., Angoulvant, F., Bachelet, D., Basmaci, R., Behillil, S., Beluze, M., Benkerrou, D., Bhavsar, K., Bompart, F., Bouadma, L., Bouscambert, M., Caralp, M., Cervantes-Gonzalez, M., Chair, A., Coelho, A., Couffignal, C., Couffin-Cadiergues, S., D'ortenzio, E., da Silveira, C., Debray, M.P., Deplanque, D., Descamps, D., Desvallées, M., Diallo, A., Diouf, A., Dorival, C., Dubos, F., Eloy, P., Enouf, V.V.E., Espérou, H., Esposito-Farese, M., Etienne, M., Ettalhaoui, N., Gault, N., Gaymard, A., Gigante, T., Gorenne, I., Guedj, J., Hoctin, A., Hoffmann, I., Jaafoura, S., Kafif, O., Kaguelidou, F., Kali, S., Khalil, A., Khan, C., Laouénan, C., Laribi, S., Le, M., Le Hingrat, Q., Le Mestre, S., Le Nagard, H., Lescure, F.X., Lévy, Y., Levy-Marchal, C., Lina, B., Lingas, G., Lucet, J.C., Malvy, D., Mambert, M., Mentré, F., Mercier, N., Meziane, A., Mouquet, H., Mullaert, J., Neant, N., Noret, M., Pages, J., Papadopoulos, A., Paul, C., Peiffer-Smadja, N., Petrov-Sanchez, V., Peytavin, G., Picone, O., Puéchal, O., Rosa-Calatrava, M., Rossignol, B., Roy, C., Schneider, M., Semaille, C., Mohammed, N.S., Tagherset, L., Tardivon, C., Tellier, M.C., Téoulé, F., Terrier, O., Timsit, J.F., Treoux, T., Tual, C., Tubiana, S., van der Werf, S., Vanel, N., Veislinger, A., Visseaux, B., Wiedemann, A., Yazdanpanah, Y., Abelc, L., Alcover, A., Aschard, H., Astrom, K., Bousso, P., Bruhns, P., Cumano, A., Demangel, C., Deriano, L., Santo, J.D., Dromer, F., Eberl, G., Enninga, J., Fellay, Jacques, Gomperts-Boneca, I., Hasan, M., Hercberg, S., Lantz, O., Patin, E., Pellegrini, S., Pol, S., Rausell, A., Rogge, L., Sakuntabhai, A., Schwartz, O., Schwikowski, B., Shorte, S., Tangy, F., Toubert, A., Touvier, M., Ungeheuer, M.N., Albert, M.L., Alavoine, L., Amat, K.K.A., Bielicki, J., Bruijning, P., Burdet, C., Caumes, E., Charpentier, C., Coignard, B., Costa, Y., Damond, F., Dechanet, A., Delmas, C., Ecobichon, J.L., Enouf, V., Frezouls, W., Houhou, N., Ilic-Habensus, E., Kikoine, J., Lebeaux, D., Leclercq, A., Lehacaut, J., Letrou, S., Manchon, P., Mandic, M., Meghadecha, M., Motiejunaite, J., Nouroudine, M., Piquard, V., Postolache, A., Quintin, C., Rexach, J., Roufai, L., Terzian, Z., Thy, M., Vignali, V., van Agtmael, M., Algera, A.G., van Baarle, F., Bax, D., Beudel, M., Bogaard, H.J., Bomers, M., Bos, Lieuwe D, Botta, M., de Brabander, J., Bree, G., Brouwer, M.C., de Bruin, S., Bugiani, M., Bulle, E., Chouchane, O., Cloherty, A., Elbers, P., Fleuren, L., Geerlings, S., Geerts, B., Geijtenbeek, T., Girbes, A., Goorhuis, B., Grobusch, M.P., Hafkamp, F., Hagens, L., Hamann, J., Harris, V., Hemke, R., Hermans, S.M., Heunks, L., Hollmann, M.W., Horn, J., Hovius, J.W., de Jong, M.D., Koning, R., van Mourik, N., Nellen, J., Paulus, F., Peters, E., van der Poll, T., Preckel, B., Prins, J.M., Raasveld, J., Reijnders, T., Schinkel, M., Schultz, M.J., Schuurman, A., Sigaloff, K., Smit, M., Stijnis, C.S., Stilma, Willemke, Teunissen, C., Thoral, P., Tsonas, A., van der Valk, M., Veelo, D., Vlaar, A.P.J., de Vries, H., van Vugt, M., Joost Wiersinga, W., Wouters, D., Zwinderman, A.H., Abelb, L., Iuti, F., Muhsen, S.A., Al-Mulla, F., Anderson, M.S., Bogunovic, D., Bondarenko, A., Bryceson, Y., Bustamante, C.D., Butte, M., Chakravorty, S., Christodoulou, J., Cirulli, E., Condino-Neto, A., Cooper, M.A., DeRisi, J.L., Desai, M., Drolet, B.A., Espinosa, S., Franco, J.L., Gregersen, P.K., Hagin, D., Heath, J., Henrickson, S.E., Hsieh, E., Imai, K., Itan, Y., Karamitros, T., Kisanda, K., Ku, C.L., Ling, Y., Lucas, C.L., Maniatis, T., Marodi, L., Milner, J.D., Mironska, K., Morio, T., Notarangeloa, L.D., Novelli, G., Novelli, A., O'Farrelly, C., Okada, S., Planas, A.M., Prando, C., Pujol, A., Renia, L., Renieri, A., Sancho-Shimizu, V., Sankaran, V., Barrett, K.S., Snow, A., Turvey, S., Uddin, F., Uddin, M.J., Vazquez, S.E., von Bernuth, H., Washington, N., Zawadzki, P., Sua, H.C., Casanovaa, J.L., Rosen, L.B., and Universitat Autònoma de Barcelona
- Abstract
Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease 2019 (COVID-19) pneumonia had neutralizing immunoglobulin G (IgG) autoantibodies (auto-Abs) against interferon-w (IFN-w) (13 patients), against the 13 types of IFN-a (36), or against both (52) at the onset of critical disease; a few also had auto-Abs against the other three type I IFNs. The auto-Abs neutralize the ability of the corresponding type I IFNs to block SARS-CoV-2 infection in vitro. These auto-Abs were not found in 663 individuals with asymptomatic or mild SARS-CoV-2 infection and were present in only 4 of 1227 healthy individuals. Patients with auto-Abs were aged 25 to 87 years and 95 of the 101 were men. A B cell autoimmune phenocopy of inborn errors of type I IFN immunity accounts for life-threatening COVID-19 pneumonia in at least 2.6% of women and 12.5% of men.
- Published
- 2020
10. Infections with Haemophilus species in chronic granulomatous disease: insights into the interaction of bacterial catalase and H 2O 2 production
- Author
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Kottilil, S, Malech, H.L, Gill, V.J, and Holland, S.M
- Published
- 2003
- Full Text
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11. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency
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Farmer, J.R. Foldvari, Z. Ujhazi, B. De Ravin, S.S. Chen, K. Bleesing, J.J.H. Schuetz, C. Al-Herz, W. Abraham, R.S. Joshi, A.Y. Costa-Carvalho, B.T. Buchbinder, D. Booth, C. Reiff, A. Ferguson, P.J. Aghamohammadi, A. Abolhassani, H. Puck, J.M. Adeli, M. Cancrini, C. Palma, P. Bertaina, A. Locatelli, F. Di Matteo, G. Geha, R.S. Kanariou, M.G. Lycopoulou, L. Tzanoudaki, M. Sleasman, J.W. Parikh, S. Pinero, G. Fischer, B.M. Dbaibo, G. Unal, E. Patiroglu, T. Karakukcu, M. Al-Saad, K.K. Dilley, M.A. Pai, S.-Y. Dutmer, C.M. Gelfand, E.W. Geier, C.B. Eibl, M.M. Wolf, H.M. Henderson, L.A. Hazen, M.M. Bonfim, C. Wolska-Kuśnierz, B. Butte, M.J. Hernandez, J.D. Nicholas, S.K. Stepensky, P. Chandrakasan, S. Miano, M. Westermann-Clark, E. Goda, V. Kriván, G. Holland, S.M. Fadugba, O. Henrickson, S.E. Ozen, A. Karakoc-Aydiner, E. Baris, S. Kiykim, A. Bredius, R. Hoeger, B. Boztug, K. Pashchenko, O. Neven, B. Moshous, D. de Villartay, J.-P. Bousfiha, A.A. Hill, H.R. Notarangelo, L.D. Walter, J.E.
- Subjects
hemic and lymphatic diseases - Abstract
Background: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. Objective: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. Methods: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. Results: Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. Conclusions: Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management. © 2019 The Authors
- Published
- 2019
12. Genome-Wide Association Study in Patients with Pulmonary Mycobacterium Avium Complex Disease
- Author
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Namkoong, H., primary, Omae, Y., additional, Asakura, T., additional, Yoshida, M., additional, Suzuki, S., additional, Morimoto, K., additional, Oler, A.J., additional, Szymanski, E.P., additional, Matsuda, S., additional, Yagi, K., additional, Ishii, M., additional, Hase, I., additional, Nishimura, T., additional, Sasaki, Y., additional, Asami, T., additional, Shiomi, T., additional, Matsubara, H., additional, Shimada, H., additional, Ato, M., additional, Kosaki, K., additional, Betsuyaku, T., additional, Kurashima, A., additional, Tettelin, H., additional, Olivier, K.N., additional, Hoshino, Y., additional, Holland, S.M., additional, Tokunaga, K., additional, Hasegawa, N., additional, and Nontuberculous Mycobacteriosis Japa, O.N.-J., additional
- Published
- 2019
- Full Text
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13. 561del4 Defines a Novel Small Deletion Hotspot in the Interferon-γ Receptor 1 Chain
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Rosenzweig, S., Dorman, S.E., Roesler, J., Palacios, J., Zelazko, M., and Holland, S.M.
- Published
- 2002
- Full Text
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14. Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance.
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Holland S.M., Darnell D.N., Ojaimi S., Cooper M.A., Bozzola M., Kleiner G.I., Martinez J.C., Deterding R.R., Kuhns D.B., Heller T., Winer K.K., Rajan A., Snow L.N., Notarangelo L.D., Fennelly K.P., Olivier K.N., Lionakis M.S., Folio L.R., Mollura D.J., Swamydas M., Gu W., Hunsberger S., Lee C.-C.R., Bondici A., Hoffman K.W., Lim J.K., Dobbs K., Niemela J.E., Fleisher T.A., Hsu A.P., Ferre E.M.N., Break T.J., Burbelo P.D., Allgauer M., Kleiner D.E., Jin D., Xu Z., Holland S.M., Darnell D.N., Ojaimi S., Cooper M.A., Bozzola M., Kleiner G.I., Martinez J.C., Deterding R.R., Kuhns D.B., Heller T., Winer K.K., Rajan A., Snow L.N., Notarangelo L.D., Fennelly K.P., Olivier K.N., Lionakis M.S., Folio L.R., Mollura D.J., Swamydas M., Gu W., Hunsberger S., Lee C.-C.R., Bondici A., Hoffman K.W., Lim J.K., Dobbs K., Niemela J.E., Fleisher T.A., Hsu A.P., Ferre E.M.N., Break T.J., Burbelo P.D., Allgauer M., Kleiner D.E., Jin D., and Xu Z.
- Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a monogenic disorder caused by AIRE mutations, presents with several autoimmune diseases. Among these, endocrine organ failure is widely recognized, but the prevalence, immunopathogenesis, and treatment of non-endocrine manifestations such as pneumonitis remain poorly characterized. We enrolled 50 patients with APECED in a prospective observational study and comprehensively examined their clinical and radiographic findings, performed pulmonary function tests, and analyzed immunological characteristics in blood, bronchoalveolar lavage fluid, and endobronchial and lung biopsies. Pneumonitis was found in >40% of our patients, presented early in life, was misdiagnosed despite chronic respiratory symptoms and accompanying radiographic and pulmonary function abnormalities, and caused hypoxemic respiratory failure and death. Autoantibodies against BPIFB1 and KCNRG and the homozygous c.967-979del13 AIRE mutation are associated with pneumonitis development. APECED pneumonitis features compartmentalized immunopathology, with accumulation of activated neutrophils in the airways and lymphocytic infiltration in intraepithelial, submucosal, peribronchiolar, and interstitial areas. Beyond APECED, we extend these observations to lung disease seen in other conditions with secondary AIRE deficiency (thymoma and RAG deficiency). Aire-deficient mice had similar compartmentalized cellular immune responses in the airways and lung tissue, which was ameliorated by deficiency of T and B lymphocytes. Accordingly, T and B lymphocyte-directed immunomodulation controlled symptoms and radiographic abnormalities and improved pulmonary function in patients with APECED pneumonitis. Collectively, our findings unveil lung autoimmunity as a common, early, and unrecognized manifestation of APECED and provide insights into the immunopathogenesis and treatment of pulmonary autoimmunity associated with impaired central immune toleran
- Published
- 2019
15. IL-21/type I interferon interplay regulates neutrophil-dependent innate immune responses to Staphylococcus aureus
- Author
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Spolski, R., West, E.E., Li, P., Veenbergen, S. (Sharon), Yung, S. (Sun), Kazemian, M., Oh, J. (Jess), Yu, Z.X., Freeman, A.F., Holland, S.M., Murphy, P.M., Leonard, W.J., Spolski, R., West, E.E., Li, P., Veenbergen, S. (Sharon), Yung, S. (Sun), Kazemian, M., Oh, J. (Jess), Yu, Z.X., Freeman, A.F., Holland, S.M., Murphy, P.M., and Leonard, W.J.
- Abstract
Methicillin-resistant Staphylococcus aureus (MRSA) is a major hospital- and communityacquired pathogen, but the mechanisms underlying host-defense to MRSA remain poorly understood. Here, we investigated the role of IL-21 in this process. When administered intratracheally into wild-type mice, IL-21 induced granzymes and augmented clearance of pulmonary MRSA but not when neutrophils were depleted or a granzyme B inhibitor was added. Correspondingly, IL-21 induced MRSA killing by human peripheral blood neutrophils. Unexpectedly, however, basal MRSA clearance was also enhanced when IL-21 signaling was blocked, both in Il21r KO mice and in wild-type mice injected with IL-21R-Fc fusion-protein. This correlated with increased type I interferon and an IFN-related gene signature, and indeed antiIFNAR1 treatment diminished MRSA clearance in these animals. Moreover, we found that IFNb induced granzyme B and promoted MRSA clearance in a granzyme B-dependent fashion. These results reveal an interplay between IL-21 and type I IFN in the innate immune response to MRSA
- Published
- 2019
- Full Text
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16. Treatment outcome definitions in nontuberculous mycobacterial pulmonary disease: an NTM-NET consensus statement
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Ingen, J. van, Aksamit, T., Andrejak, C., Bottger, E.C., Cambau, E., Daley, C.L., Griffith, D.E., Guglielmetti, L., Holland, S.M., Huitt, G.A., Koh, W.J., Lange, C de, Leitman, P., Marras, T.K., Morimoto, K., Olivier, K.N., Santin, M., Stout, J.E., Thomson, R., Tortoli, E., Wallace, R.J., Winthrop, K.L., Wagner, D., Ingen, J. van, Aksamit, T., Andrejak, C., Bottger, E.C., Cambau, E., Daley, C.L., Griffith, D.E., Guglielmetti, L., Holland, S.M., Huitt, G.A., Koh, W.J., Lange, C de, Leitman, P., Marras, T.K., Morimoto, K., Olivier, K.N., Santin, M., Stout, J.E., Thomson, R., Tortoli, E., Wallace, R.J., Winthrop, K.L., and Wagner, D.
- Abstract
Item does not contain fulltext
- Published
- 2018
17. Distinct Functions of Autoantibodies Against Interferon in Systemic Lupus Erythematosus: A Comprehensive Analysis of Anticytokine Autoantibodies in Common Rheumatic Diseases
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Gupta, S. Tatouli, I.P. Rosen, L.B. Hasni, S. Alevizos, I. Manna, Z.G. Rivera, J. Jiang, C. Siegel, R.M. Holland, S.M. Moutsopoulos, H.M. Browne, S.K.
- Abstract
Objective: Anticytokine autoantibodies occur across a range of hematologic, pulmonary, and infectious diseases. However, systematic investigation of their presence and significance in autoimmune diseases is lacking. This study was undertaken to examine the distinct functions of anticytokine autoantibodies in patients with systemic lupus erythematosus (SLE) compared to patients with other rheumatic diseases and healthy controls. Methods: Serum samples from patients with SLE (n = 199), patients with primary Sjögren's syndrome (SS) (n = 150), patients with rheumatoid arthritis (RA) (n = 149), and healthy controls (n = 200) were screened for 24 anticytokine autoantibodies using a multiplex bead-based assay. To evaluate the biologic activity of anticytokine autoantibodies, their ability to block cytokine-induced signal transduction or protein expression was measured. RNA sequencing was performed on whole blood in a subset of healthy controls and patients with SLE. Results: Patients with SLE and those with SS had a striking excess of autoantibodies against interferons and the interferon-responsive chemokine interferon-inducible protein 10 (IP-10). Only autoantibodies against type I interferon, interleukin-12 (IL-12), and IL-22 exhibited neutralizing activity. In SLE, the presence of anti–interferon-γ autoantibodies was correlated with more severe disease activity, higher levels of anti–double-stranded DNA antibodies, and elevated expression of interferon-α/β–inducible genes. Conversely, in SLE patients with blocking anti–interferon-α autoantibodies, the type I interferon gene expression signature was normalized. Anti–type III interferon autoantibodies (λ2, λ3) and anti–IP-10 autoantibodies were newly recognized in SLE patient serum, and autoantibodies against macrophage-colony stimulating factor, IL-4, IL-7, IL-17, and IL-22, none of which have been previously identified in rheumatic conditions, were discovered. Conclusion: Anticytokine autoantibodies are associated with distinct patterns of disease in SLE, SS, and RA. Anti-interferon autoantibodies are overrepresented in patients with SLE and those with SS, and fall into distinct functional classes, with only a subset of anti–type I interferon antibodies exhibiting neutralizing activity. Anti–interferon-γ autoantibodies are correlated with increased disease activity and interferon-related gene expression, suggesting that such autoantibodies may contribute to the pathogenesis of SLE. © 2016, American College of Rheumatology
- Published
- 2016
18. Fertility preservation for GATA2 patients
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Zolton, J.R., primary, Parikh, T., additional, Pilgrim, J., additional, Hickstein, D.D., additional, Holland, S.M., additional, Hill, M.J., additional, and DeCherney, A., additional
- Published
- 2017
- Full Text
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19. GATA2 deficiency: pre and post-transplant persistence of human papilloma virus on cervical sampling
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Pilgrim, J., primary, Zolton, J.R., additional, Parikh, T., additional, Hill, M.J., additional, Holland, S.M., additional, Hickstein, D.D., additional, and DeCherney, A.H., additional
- Published
- 2017
- Full Text
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20. Nine patients with chronic granulomatous disease having selective neck dissection for severe cervical lymphadenitis
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Wingfield, L.R., primary, Liu, J., additional, Hu, M., additional, Bianchi, D., additional, Hauck, K., additional, Driscoll, B., additional, Gallin, J.I., additional, Malech, H.L., additional, Holland, S.M., additional, and Van Waes, C., additional
- Published
- 2017
- Full Text
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21. Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans
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Lyons, J.J., primary, Liu, Y., additional, Ma, C.A., additional, Yu, X., additional, O’Connell, M.P., additional, Lawrence, M.G., additional, Zhang, Y., additional, Karpe, K., additional, Zhao, M., additional, Siegel, A.M., additional, Stone, K.D., additional, Nelson, C., additional, Jones, N., additional, DiMaggio, T., additional, Darnell, D.N., additional, Mendoza-Caamal, E., additional, Orozco, L., additional, Hughes, J.D., additional, McElwee, J., additional, Hohman, R.J., additional, Frischmeyer-Guerrerio, P.A., additional, Rothenberg, M.E., additional, Freeman, A.F., additional, Holland, S.M., additional, and Milner, J.D., additional
- Published
- 2017
- Full Text
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22. Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease
- Author
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Zimmerman, O., Rosler, B., Zerbe, C.S., Rosen, L.B., Hsu, A.P., Uzel, G., Freeman, A.F., Sampaio, E.P., Rosenzwieg, S.D., Kuehn, H.S., Kim, T., Brooks, K.M., Kumar, P., Wang, X., Netea, M.G., Veerdonk, F.L. van de, Holland, S.M., Zimmerman, O., Rosler, B., Zerbe, C.S., Rosen, L.B., Hsu, A.P., Uzel, G., Freeman, A.F., Sampaio, E.P., Rosenzwieg, S.D., Kuehn, H.S., Kim, T., Brooks, K.M., Kumar, P., Wang, X., Netea, M.G., Veerdonk, F.L. van de, and Holland, S.M.
- Abstract
Contains fulltext : 182583.pdf (publisher's version ) (Open Access), Heterozygous STAT1 gain-of-function (GOF) mutations are associated with chronic mucocutaneous candidiasis and a broad spectrum of infectious, inflammatory, and vascular manifestations. We describe therapeutic failures with the Janus Kinase (JAK) inhibitor ruxolitinib in 2 STAT1 GOF patients with severe invasive or cutaneous fungal infections.
- Published
- 2017
23. Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes
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Zimmerman, O., Rosen, L.B., Swamydas, M., Ferre, E.M.N., Natarajan, M., Veerdonk, F.L. van de, Holland, S.M., Lionakis, M.S., Zimmerman, O., Rosen, L.B., Swamydas, M., Ferre, E.M.N., Natarajan, M., Veerdonk, F.L. van de, Holland, S.M., and Lionakis, M.S.
- Abstract
Contains fulltext : 177514.pdf (publisher's version ) (Open Access), Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by biallelic autoimmune regulator (AIRE) mutations that manifests with chronic mucocutaneous candidiasis (CMC) and autoimmunity. Patients with STAT1 gain-of-function (GOF) mutations also develop CMC and autoimmunity; they exhibit increased STAT1 protein levels at baseline and STAT1 phosphorylation (pSTAT1) upon interferon (IFN)-gamma stimulation relative to healthy controls. AIRE interacts functionally with a protein that directly regulates STAT1, namely protein inhibitor of activated STAT1, which inhibits STAT1 activation. Given the common clinical features between patients with AIRE and STAT1 GOF mutations, we sought to determine whether APECED patients also exhibit increased levels of STAT1 protein and phosphorylation in CD14+ monocytes. We obtained peripheral blood mononuclear cells from 8 APECED patients and 13 healthy controls and assessed the levels of STAT1 protein and STAT1 tyrosine phosphorylation at rest and following IFN-gamma stimulation, as well as the levels of STAT1 mRNA. The mean STAT1 protein levels in CD14+ monocytes exhibited a ~20% significant decrease in APECED patients both at rest and after IFN-gamma stimulation relative to that of healthy donors. Similarly, the mean peak value of IFN-gamma-induced pSTAT1 level was ~20% significantly lower in APECED patients compared to that in healthy controls. The decrease in STAT1 and peak pSTAT1 in APECED patients was not accompanied by decreased STAT1 mRNA or anti-IFN-gamma autoantibodies; instead, it correlated with the presence of autoantibodies to type I IFN and decreased AIRE-/- monocyte surface expression of IFN-gamma receptor 2. Our data show that, in contrast to patients with STAT1 GOF mutations, APECED patients show a moderate but consistent and significant decrease in total STAT1 protein levels, associated with lower peak levels of pSTAT1 molecules after IFN-gamma
- Published
- 2017
24. A novel syndrome of elevated serum IgE, recurrent infections, vasculitis, and neurocognitive impairment with myoclonus
- Author
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Hay, B.N., Davis, J., Darnell, D., Karp, B., Martin, J.E., Solomon, B.I., Turner, M.L., Puck, J.M., and Holland, S.M.
- Subjects
Human genetics -- Research ,Serum -- Genetic aspects ,Vasculitis -- Genetic aspects ,Immunologic diseases -- Genetic aspects ,Biological sciences - Published
- 2001
25. ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans
- Author
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Lyons, J.J., primary, Liu, Y., additional, Ma, C.A., additional, Yu, X., additional, O’Connell, M.P., additional, Lawrence, M.G., additional, Zhang, Y., additional, Karpe, K., additional, Zhao, M., additional, Siegel, A.M., additional, Stone, K.D., additional, Nelson, C., additional, Jones, N., additional, DiMaggio, T., additional, Darnell, D.N., additional, Mendoza-Caamal, E., additional, Orozco, L., additional, Hughes, J.D., additional, McElwee, J., additional, Hohman, R.J., additional, Frischmeyer-Guerrerio, P.A., additional, Rothenberg, M.E., additional, Freeman, A.F., additional, Holland, S.M., additional, and Milner, J.D., additional
- Published
- 2017
- Full Text
- View/download PDF
26. Genital cancer in the primary immunodeficiency GATA2 deficiency
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Dancy, E.K., primary, Szymanski, E.P., additional, Stratton, P., additional, Merideth, M., additional, Heller, T., additional, Hughes, M., additional, Holland, S.M., additional, Marciano, B.E., additional, and Zerbe, C.S., additional
- Published
- 2016
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27. 072 HPV genotypes in genital dysplasia and carcinoma in GATA2 deficiency
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Pichard, D.C., primary, van Doorslaer, K., additional, McBride, A.A., additional, Zerbe, C.S., additional, Stratton, P., additional, Holland, S.M., additional, Kong, H.H., additional, and Cowen, E.W., additional
- Published
- 2016
- Full Text
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28. IL-10 signaling in dendritic cells controls IL-1β-mediated IFNγ secretion by human CD4+T cells: relevance to inflammatory bowel disease
- Author
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Veenbergen, S., Li, P., Raatgeep, H.C., Lindenbergh-Kortleve, D.J., Simons-Oosterhuis, Y., Farrel, A., Costes, L.M.M., Joosse, M.E., van Berkel, L.A., de Ruiter, L.F., van Leeuwen, M.A., Winter, D., Holland, S.M., Freeman, A.F., Wakabayashi, Y., Zhu, J., de Ridder, L., Driessen, G.J., Escher, J.C., Leonard, W.J., and Samsom, J.N.
- Abstract
Uncontrolled interferon γ (IFNγ)-mediated T-cell responses to commensal microbiota are a driver of inflammatory bowel disease (IBD). Interleukin-10 (IL-10) is crucial for controlling these T-cell responses, but the precise mechanism of inhibition remains unclear. A better understanding of how IL-10 exerts its suppressive function may allow identification of individuals with suboptimal IL-10 function among the heterogeneous population of IBD patients. Using cells from patients with an IL10RAdeficiency or STAT3mutations, we demonstrate that IL-10 signaling in monocyte-derived dendritic cells (moDCs), but not T cells, is essential for controlling IFNγ-secreting CD4+T cells. Deficiency in IL-10 signaling dramatically increased IL-1β release by moDCs. IL-1β boosted IFNγ secretion by CD4+T cells either directly or indirectly by stimulating moDCs to secrete IL-12. As predicted a signature of IL-10 dysfunction was observed in a subgroup of pediatric IBD patients having higher IL-1β expression in activated immune cells and macroscopically affected intestinal tissue. In agreement, reduced IL10RAexpression was detected in peripheral blood mononuclear cells and a subgroup of pediatric IBD patients exhibited diminished IL-10 responsiveness. Our data unveil an important mechanism by which IL-10 controls IFNγ-secreting CD4+T cells in humans and identifies IL-1β as a potential classifier for a subgroup of IBD patients.
- Published
- 2019
- Full Text
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29. Invasive fungal infections in patients with chronic granulomatous disease
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Henriet, S.S.V., Verweij, P.E., Holland, S.M., and Warris, A.
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Pathogenesis and modulation of inflammation [N4i 1] ,Invasive mycoses and compromised host [N4i 2] ,Invasive mycoses and compromised host Infection and autoimmunity [N4i 2] - Abstract
Item does not contain fulltext Invasive fungal infections are a major threat for chronic granulomatous disease (CGD) patients. The present study provides a comprehensive overview of published invasive fungal infections in the CGD host through an extensive review of epidemiological, clinical, diagnostic and therapeutic data. In addition to the often mild clinical presentation, the currently used diagnostics for invasive aspergillosis have low sensitivity in CGD patients and cannot be easily translated to this non-neutropenic host. Aspergillus fumigatus and A. nidulans are the most commonly isolated species. A. nidulans infections are seldom reported in other immunocompromised patients, indicating a unique interaction between this fungus and the CGD host. The occurrence of mucormycosis is mainly noted in the setting of treatment of inflammatory complications with immunosuppressive drugs. Candida infections are infrequently seen and do not cause mucocutaneous disease but do show an age-dependent clinical presentation. The CGD patient is susceptible to a wide range of fungal pathogens, indicating the need to determine the causative fungus, often by invasive diagnostics, to guide optimal and rational treatment. This review summarizes current understanding of invasive fungal infections in patients with CGD and will serve as a starting point to guide optimal treatment strategies and to direct further research aimed at improving outcomes.
- Published
- 2013
30. IMPAIRED CYTOKINE RESPONSES TO STIMULATION IN PATIENTS WITH CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME (CAPS)
- Author
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Haverkamp, M.H., Vosse, E. van de, Goldbach-Mansky, R., and Holland, S.M.
- Published
- 2012
31. Identification of Pseudomonas aeruginosa DNA in a chorioretinal lesion associated with chronic granulomatous disease
- Author
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Herzlich, A.A., Yeh, S., Shen, D., Ding, X., Uzel, G., Holland, S.M., and Chan, C.
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Pseudomonas aeruginosa -- Diagnosis ,Pseudomonas aeruginosa -- Genetic aspects ,DNA -- Research ,DNA -- Physiological aspects ,Chronic granulomatous disease -- Diagnosis ,Chronic granulomatous disease -- Genetic aspects ,Health - Published
- 2008
32. 288 GATA2-ASSOCIATED MYELODYSPLASTIC SYNDROME(MDS) HAS UNIQUE IMMUNOPHENOTYPIC FEATURES THAT DIFFER FROM DE NOVO MDS
- Author
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Florea, A.E. Dulau, primary, Townsley, D.M., additional, Hsu, A.P., additional, Ganapathi, K.A., additional, Barber, E., additional, Hickstein, D.D., additional, Braylan, R.C., additional, Young, N.S., additional, Holland, S.M., additional, and Calvo, K.R., additional
- Published
- 2015
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33. 46 HIGH FREQUENCY OF GATA2 MUTATIONS IN APLASTIC ANEMIA AND HYPOCELLULAR MYELODYSPLASTIC SYNDROME
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Hsu, A.P., primary, Townsley, D.M., additional, DeSierto, M., additional, Hickstein, D.D., additional, Calvo, K.R., additional, Holland, S.M., additional, and Young, N.S., additional
- Published
- 2015
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34. Uveitis and a subretinal mass in a patient with chronic granulomatous disease
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Buggage, R.R., Bauer, R.M., II, Holland, S.M., Santos, C.I., and Chan, C.-C.
- Subjects
Uveitis -- Development and progression ,Chronic granulomatous disease -- Complications and side effects ,Chronic granulomatous disease -- Case studies ,Health - Published
- 2006
35. Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job’s syndrome/STAT3 deficiency
- Author
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Woellner C., Gertz E.m., Schaeffer A.A., Lagos M., Perro M., Pietrogrande M.C., Cossu F., Franco J.L., Matamoros N., Pietrucha B., Heropolianska Pliszka E., Yeganeh M., Espanol T., Ehl S., Gennery A.r., Abinun M., Breborowics A., Niehues T., Kilic S.S., Junker A., Turvey S., Plebani A., Sanchez B., Garty B.Z., Cancrini C., Litzman J., Sanal O., Baumann U., Bacchetta R., Hsu A., Hammarstrom L., Davies E.G., Eren E., Arkwright P.D., Moilanen J.S., Viemann D., Khan S., Marodi L., Cant A.M., Puck J.M., Holland S.M., Grimbacher B., PIGNATA, CLAUDIO, Woellner, C., Gertz, E. m., Schaeffer, A. A., Lagos, M., Perro, M., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolianska Pliszka, E., Yeganeh, M., Espanol, T., Ehl, S., Gennery, A. r., Abinun, M., Breborowics, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S., Plebani, A., Sanchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A., Hammarstrom, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Marodi, L., Cant, A. M., Puck, J. M., Holland, S. M., and Grimbacher, B.
- Published
- 2008
36. NADPH-oxidase-driven oxygen radical production determines chondrocyte death and partly regulates metalloproteinase-mediated cartilage matrix degradation during interferon-gamma-stimulated immune complex arthritis
- Author
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Lent, P.L.E.M. van, Nabbe, K.C.A.M., Blom, A.B., Sloetjes, A.W., Holthuysen, A.E.M., Kolls, J., Loo, F.A.J. van de, Holland, S.M., and Berg, W.B. van den
- Subjects
Pathogenesis and modulation of inflammation [N4i 1] ,Chronic inflammation and autoimmunity [UMCN 4.2] ,Auto-immunity, transplantation and immunotherapy [N4i 4] ,Infection and autoimmunity [NCMLS 1] - Abstract
Contains fulltext : 48903.pdf (Publisher’s version ) (Open Access) In previous studies we have found that FcgammaRI determines chondrocyte death and matrix metalloproteinase (MMP)-mediated cartilage destruction during IFN-gamma-regulated immune complex arthritis (ICA). Binding of immune complexes (ICs) to FcgammaRI leads to the prominent production of oxygen radicals. In the present study we investigated the contribution of NADPH-oxidase-driven oxygen radicals to cartilage destruction by using p47phox-/- mice lacking a functional NADPH oxidase complex. Induction of a passive ICA in the knee joints of p47phox-/- mice resulted in a significant elevation of joint inflammation at day 3 when compared with wild-type (WT) controls as studied by histology. However, when IFN-gamma was overexpressed by injection of adenoviral IFN-gamma in the knee joint before ICA induction, a similar influx of inflammatory cells was found at days 3 and 7, comprising mainly macrophages in both mouse strains. Proteoglycan depletion from the cartilage layers of the knee joints in both groups was similar at days 3 and 7. Aggrecan breakdown in cartilage caused by MMPs was further studied by immunolocalisation of MMP-mediated neoepitopes (VDIPEN). VDIPEN expression in the cartilage layers of arthritic knee joints was markedly lower (between 30 and 60%) in IFN-gamma-stimulated arthritic p47phox-/- mice at day 7 than in WT controls, despite significant upregulation of mRNA levels of various MMPs such as MMP-3, MMP-9, MMP-12 and MMP-13 in synovia and MMP-13 in cartilage layers as measured with quantitative RT-PCR. The latter observation suggests that oxygen radicals are involved in the activation of latent MMPs. Chondrocyte death, determined as the percentage of empty lacunae in articular cartilage, ranged between 20 and 60% at day 3 and between 30 and 80% at day 7 in WT mice, and was completely blocked in p47phox-/- mice at both time points. FcgammaRI mRNA expression was significantly lower, and FcgammaRII and FcgammaRIII were higher, in p47phox-/- mice than in controls. NADPH-oxidase-driven oxygen radical production determines chondrocyte death and aggravates MMP-mediated cartilage destruction during IFN-gamma-stimulated IC-mediated arthritis. Upregulation of FcgammaRI by oxygen radicals may contribute to cartilage destruction.
- Published
- 2005
37. A 17-year old patient with DOCK8 deficiency, severe oral HSV-1 and aggressive periodontitis – A case of virally induced periodontitis?
- Author
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Betts, K., primary, Abusleme, L., additional, Freeman, A.F., additional, Sarmadi, M., additional, Fahle, G., additional, Pittaluga, S., additional, Cuellar-Rodriguez, J., additional, Hickstein, D., additional, Holland, S.M., additional, Su, H., additional, and Moutsopoulos, N.M., additional
- Published
- 2015
- Full Text
- View/download PDF
38. Mendelian Genetics of Human Susceptibility to Fungal Infection
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Lionakis, M.S., Netea, M.G., Holland, S.M., Lionakis, M.S., Netea, M.G., and Holland, S.M.
- Abstract
Contains fulltext : 137429.pdf (Publisher’s version ) (Closed access), A recent surge in newly described inborn errors of immune function-related genes that result in susceptibility to fungal disease has greatly enhanced our understanding of the cellular and molecular basis of antifungal immune responses. Characterization of single-gene defects that predispose to various combinations of superficial and deep-seated infections caused by yeasts, molds, and dimorphic fungi has unmasked the critical role of novel molecules and signaling pathways in mucosal and systemic antifungal host defense. These experiments of nature offer a unique opportunity for developing new knowledge in immunological research and form the foundation for devising immune-based therapeutic approaches for patients infected with fungal pathogens.
- Published
- 2014
39. Generalized verrucosis in a patient withGATA2deficiency
- Author
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West, E.S., primary, Kingsbery, M.Y., additional, Mintz, E.M., additional, Hsu, A.P., additional, Holland, S.M., additional, Rady, P.L., additional, Tyring, S.K., additional, and Grossman, M.E., additional
- Published
- 2014
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- View/download PDF
40. The Economic impact of Charter and Party Boat Operations in the Gulf of Mexico
- Author
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Stoll, J.R., Milon, J.W., Ditton, R.B., Sutton, S.G., and Holland, S.M.
- Subjects
Fisheries - Published
- 2002
41. Chloroquine modulates the fungal immune response in phagocytic cells from patients with chronic granulomatous disease
- Author
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Henriet, S.S.V., Jans, J., Simonetti, E.R., Kwon-Chung, K.J., Rijs, A.J.M.M., Hermans, P.W.M., Holland, S.M., Jonge, M.I. de, Warris, A., Henriet, S.S.V., Jans, J., Simonetti, E.R., Kwon-Chung, K.J., Rijs, A.J.M.M., Hermans, P.W.M., Holland, S.M., Jonge, M.I. de, and Warris, A.
- Abstract
Contains fulltext : 118131.pdf (Publisher’s version ) (Closed access), Invasive aspergillosis is a major threat to patients with chronic granulomatous disease (CGD). Fungal pathogenesis is the result of a diminished antifungal capacity and dysregulated inflammation. A deficient NADPH-oxidase complex results in defective phagolysosomal alkalization. To investigate the contribution of defective pH regulation in phagocytes among patients with CGD during fungal pathogenesis, we evaluated the effect of the acidotropic, antimalarial drug chloroquine (CQ) on the antifungal capacity of polymorphonuclear cells (PMNs) and on the inflammatory response of peripheral blood mononuclear cells (PBMCs). Chloroquine exerted a direct pH-dependent antifungal effect on Aspergillus fumigatus and Aspergillus nidulans; it increased the antifungal activity of PMNs from patients with CGD at a significantly lower concentration, compared with the concentration for PMNs from healthy individuals; and decreased the hyperinflammatory state of PBMCs from patients with CGD, as observed by decreased tumor necrosis factor alpha and interleukin 1beta release. Chloroquine targets both limbs of fungal pathogenesis and might be of great value in the clearance of invasive aspergillosis in patients with CGD.
- Published
- 2013
42. Human leukocytes kill Aspergillus nidulans by reactive oxygen species-independent mechanisms
- Author
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Henriet, S.S.V., Hermans, P.W.M., Verweij, P.E., Simonetti, E.R., Holland, S.M., Sugui, J.A., Kwon-Chung, K.J., Warris, A., Henriet, S.S.V., Hermans, P.W.M., Verweij, P.E., Simonetti, E.R., Holland, S.M., Sugui, J.A., Kwon-Chung, K.J., and Warris, A.
- Abstract
Item does not contain fulltext, Invasive aspergillosis is a major threat for patients suffering from chronic granulomatous disease (CGD). Although Aspergillus fumigatus is the most commonly encountered Aspergillus species, the presence of A. nidulans appears to be disproportionately high in CGD patients. The purpose of this study was to investigate the involvement of the NADPH oxidase and the resulting reactive oxygen species (ROS) in host defense against fungi and to clarify their relationship toward A. nidulans. Murine CGD alveolar macrophages (AM) and polymorphonuclear leukocytes (PMN) and peripheral blood mononuclear cells (PBMC) from healthy controls and CGD patients were challenged with either A. fumigatus or A. nidulans. Analysis of the antifungal effects of ROS revealed that A. nidulans, in contrast to A. fumigatus, is not susceptible to ROS. In addition, infection with live A. nidulans did not result in any measurable ROS release. Remarkably, human CGD PMN and PBMC and murine CGD AM were at least equipotent at arresting conidial germination compared to healthy controls. Blocking of the NADPH oxidase resulted in significantly reduced damage of A. fumigatus but did not affect A. nidulans hyphae. Furthermore, the microbicidal activity of CGD PMN was maintained toward A. nidulans but not A. fumigatus. In summary, antifungal resistance to A. nidulans is not directly ROS related. The etiology of A. nidulans infections in CGD cannot be explained by the simple absence of the direct microbicidal effect of ROS. In vivo, the NADPH oxidase is a critical regulator of innate immunity whose unraveling will improve our understanding of fungal pathogenesis in CGD.
- Published
- 2011
43. Defining responses to therapy and study outcomes in clinical trials of invasive fungal diseases: Mycoses Study Group and European Organization for Research and Treatment of Cancer consensus criteria.
- Author
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Segal, B.H., Herbrecht, R., Stevens, D.A., Ostrosky-Zeichner, L., Sobel, J., Viscoli, C., Walsh, T.J., Maertens, J., Patterson, T.F., Perfect, J.R., Dupont, B., Wingard, J.R., Calandra, T, Kauffman, C.A., Graybill, J.R., Baden, L.R., Pappas, P.G., Bennett, J.E., Kontoyiannis, D.P., Cordonnier, C., Viviani, M.A., Bille, J., Almyroudis, N.G., Wheat, L.J., Graninger, W., Bow, E.J., Holland, S.M., Kullberg, B.J., Dismukes, W.E., Pauw, B.E. de, Segal, B.H., Herbrecht, R., Stevens, D.A., Ostrosky-Zeichner, L., Sobel, J., Viscoli, C., Walsh, T.J., Maertens, J., Patterson, T.F., Perfect, J.R., Dupont, B., Wingard, J.R., Calandra, T, Kauffman, C.A., Graybill, J.R., Baden, L.R., Pappas, P.G., Bennett, J.E., Kontoyiannis, D.P., Cordonnier, C., Viviani, M.A., Bille, J., Almyroudis, N.G., Wheat, L.J., Graninger, W., Bow, E.J., Holland, S.M., Kullberg, B.J., Dismukes, W.E., and Pauw, B.E. de
- Abstract
Item does not contain fulltext, Invasive fungal diseases (IFDs) have become major causes of morbidity and mortality among highly immunocompromised patients. Authoritative consensus criteria to diagnose IFD have been useful in establishing eligibility criteria for antifungal trials. There is an important need for generation of consensus definitions of outcomes of IFD that will form a standard for evaluating treatment success and failure in clinical trials. Therefore, an expert international panel consisting of the Mycoses Study Group and the European Organization for Research and Treatment of Cancer was convened to propose guidelines for assessing treatment responses in clinical trials of IFDs and for defining study outcomes. Major fungal diseases that are discussed include invasive disease due to Candida species, Aspergillus species and other molds, Cryptococcus neoformans, Histoplasma capsulatum, and Coccidioides immitis. We also discuss potential pitfalls in assessing outcome, such as conflicting clinical, radiological, and/or mycological data and gaps in knowledge.
- Published
- 2008
44. Emericella quadrilineata as cause of invasive aspergillosis.
- Author
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Verweij, P.E., Varga, J., Houbraken, J., Rijs, A.J.M.M., Verduyn Lunel, F.M., Blijlevens, N.M.A., Shea, Y.R., Holland, S.M., Warris, A., Melchers, W.J.G., Samson, R.A., Verweij, P.E., Varga, J., Houbraken, J., Rijs, A.J.M.M., Verduyn Lunel, F.M., Blijlevens, N.M.A., Shea, Y.R., Holland, S.M., Warris, A., Melchers, W.J.G., and Samson, R.A.
- Abstract
Contains fulltext : 70409.pdf (publisher's version ) (Open Access), We noted a cluster of 4 cases of infection or colonization by Emericella spp., identified by sequence-based analysis as E. quadrilineata. Sequence-based analysis of an international collection of 33 Emericella isolates identified 12 as E. nidulans, all 12 of which had previously been identified by morphologic methods as E. nidulans. For 12 isolates classified as E. quadrilineata, only 6 had been previously identified accordingly. E. nidulans was less susceptible than E. quadrilineata to amphotericin B (median MICs 2.5 and 0.5 mg/L, respectively, p<0.05); E. quadrilineata was less susceptible than E. nidulans to caspofungin (median MICs, 1.83 and 0.32 mg/L, respectively, p<0.05). These data indicate that sequence-based identification is more accurate than morphologic examination for identifying Emericella spp. and that correct species demarcation and in vitro susceptibility testing may affect patient management.
- Published
- 2008
45. Abstract No. 313: Pasteurization of hepatic abscesses with RFA in immunocompromised patients with chronic granulomatous disease
- Author
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Locklin, J.K., primary, Buckner, C., additional, Libutti, S., additional, Handel, D., additional, Witebsky, F., additional, Hilligoss, D., additional, Kang, E., additional, Anderson, V., additional, Malech, H.L., additional, Holland, S.M., additional, and Wood, B.J., additional
- Published
- 2011
- Full Text
- View/download PDF
46. Early onset of Varicella Zoster Virus Reactivation (VZV, Shingles) in Patients with Autosomal Dominant Hyper IgE Syndrome (AD-HIES)
- Author
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Heimall, J., primary, Siegel, A.M., additional, Shaw, P.A., additional, Hsu, A., additional, Holland, S.M., additional, Freeman, A.F., additional, and Milner, J.D., additional
- Published
- 2011
- Full Text
- View/download PDF
47. Idiopathic CD4+ Lymphocytopenia: Clinical and Autoimmune Phenotype
- Author
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Leiding, J.W., primary, Heimall, J., additional, Song, Y., additional, Holland, S.M., additional, Siegel, R.M., additional, and Freeman, A.F., additional
- Published
- 2011
- Full Text
- View/download PDF
48. Deficiency of NADPH oxidase components p47phox and gp91phox caused granulomatous synovitis and increased connective tissue destruction in experimental arthritis models.
- Author
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Loo, F.A.J. van de, Bennink, M.B., Arntz, O.J., Smeets, R.L.L., Lubberts, G.J.H., Joosten, L.A.B., Lent, P.L.E.M. van, Coonen-de Roo, C.J., Cuzzocrea, S., Segal, B.H., Holland, S.M., Berg, W.B. van den, Loo, F.A.J. van de, Bennink, M.B., Arntz, O.J., Smeets, R.L.L., Lubberts, G.J.H., Joosten, L.A.B., Lent, P.L.E.M. van, Coonen-de Roo, C.J., Cuzzocrea, S., Segal, B.H., Holland, S.M., and Berg, W.B. van den
- Abstract
Item does not contain fulltext, Recent studies indicated that the nicotinamide dinucleotide phosphate oxidase (NADPH) oxidase-derived oxygen radicals plays a deleterious role in arthritis. To study this in more detail, gonarthritis was induced in NADPH oxidase-deficient mice. Mice received an intraarticular injection of either zymosan, to elicit an irritant-induced inflammation, or poly-L-lysine coupled lysozyme, to evoke an immune-complex mediated inflammation in passively immunized mice. In contrast to wild-type mice, arthritis elicited in both p47phox(-/-) and gp91(-/-) mice showed more severe joint inflammation, which developed into a granulomatous synovitis. Treatment with either Zileuton or cobra venom factor showed that the chemokines LTB4 and complement C3 were not the driving force behind the aggravated inflammation in these mice. Arthritic NADPH oxidase-deficient mice showed irreversible cartilage damage as judged by the enhanced aggrecan VDIPEN expression, and chondrocyte death. Furthermore, only in the absence of NADPH oxidase-derived oxygen radicals, the arthritic joints showed osteoclast-like cells, tartrate-resistant acid phosphatase (TRAP)-positive/multinucleated cells, extensive bone erosion, and osteolysis. The enhanced synovial gene expression of tumor necrosis factor-alpha, interleukin-1alpha, matrix metalloproteinase (MMP)-3, MMP-9 and receptor activator of NF-kappaB ligand (RANKL) might contribute to the aggravated arthritis in the NADPH oxidase-deficient mice. This showed that the involvement of NADPH oxidase in arthritis is probably far more complex and that oxygen radicals might also be important in controlling disease severity, and reducing joint inflammation and connective tissue damage.
- Published
- 2003
49. The relationship between alloimmunization and posttransfusion granulocyte survival: experience in a chronic granulomatous disease cohort
- Author
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Heim, K.F., primary, Fleisher, T.A., additional, Stroncek, D.F., additional, Holland, S.M., additional, Gallin, J.I., additional, Malech, H.L., additional, and Leitman, S.F., additional
- Published
- 2010
- Full Text
- View/download PDF
50. SS11-1 Therapeutic exploitation of shared IFNγ and IFNα signaling for mycobacterial disease
- Author
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Bax, H., primary, Freeman, A.F., additional, Hsu, A.P., additional, Browne, S.K., additional, Marciano, B.E., additional, Paulson, M., additional, Fowler, C., additional, Ding, L., additional, Sampaio, E.P., additional, and Holland, S.M., additional
- Published
- 2010
- Full Text
- View/download PDF
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