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3. Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency

Author

Wilkie, Hazel, Das, Mrinmoy, Pelovitz, Tyler, Bainter, Wayne, Woods, Brian, Alasharee, Mohammed, Sobh, Ali, Baris, Safa, Eltan, Sevgi Bilgic, Al-Herz, Waleed, Barbouche, Mohamed-Ridha, Ben-Mustapha, Imen, Ben-Ali, Meriem, Sallam, Mohamed T.H., Awad, Amany, Lotfy, Sohilla, El Marsafy, Aisha, Ezzelarab, Moushira, Farrar, Michael, Schmidt, Brigitta A.R., NandyMazumdar, Monali, Guttman-Yassky, Emma, Sheets, Anthony, Vidic, Katie Maria, Murphy, George, Schlievert, Patrick M., Chou, Janet, Leyva-Castillo, Juan Manuel, Janssen, Erin, Timilshina, Maheshwor, and Geha, Raif S.

Published
2024
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7. Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency.

Author

Chohayeb, Engy A., Lotfy, Sohilla, El Hawary, Rabab E., Meshaal, Safa S., Mansour, Iman A., Galal, Nermeen M., and Elmarsafy, Aisha M.

Subjects
*SEVERE combined immunodeficiency, *HEMATOPOIETIC stem cell transplantation, *FRAMESHIFT mutation, *GENETIC testing, *MISSENSE mutation
Abstract

Background: Purine nucleoside phosphorylase (PNP) deficiency is a rare, autosomal recessive, inborn error of immunity. It is characterized by progressive immune abnormalities ranging from severe combined immunodeficiency (SCID) to combined immunodeficiency less profound than SCID, neurological abnormalities and autoimmunity. Early detection and diagnosis before the development of life-threatening complications are crucial. Methods: Immune cell subsets were assessed by flow cytometry, serum immunoglobulins and uric acid levels were evaluated, and genetic testing was performed for all patients. Results: Herein, we present six Egyptian PNP deficiency patients from four different families. We describe the patients' clinical phenotypes, their immunological profile as well as their genetic results. Sequence analysis results detected 4 different variants in the PNP gene; 1 likely pathogenic frameshift deletion c.452del; p.Asn151MetfsTer20 was found in one family, 1 pathogenic nonsense variant c.172C > T; p.Arg58Ter, and 2 likely pathogenic missense variants c.682G > C; p.Ala228Pro and c.722T > C; pIle2241Thr. Conclusion: In conclusion, PNP deficiency is a variable immunodeficiency and should be considered in various clinical contexts, with or without neurological manifestations. Hematopoietic stem cell transplantation offers a good treatment option, with excellent clinical outcomes, when performed in a timely manner. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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17. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Thalhammer, Julian, primary, Kindle, Gerhard, additional, Nieters, Alexandra, additional, Rusch, Stephan, additional, Seppänen, Mikko R.J., additional, Fischer, Alain, additional, Grimbacher, Bodo, additional, Edgar, David, additional, Buckland, Matthew, additional, Mahlaoui, Nizar, additional, Ehl, Stephan, additional, Boztug, Kaan, additional, Brunner, Juergen, additional, Demel, Ulrike F., additional, Förster-Waldl, Elisabeth, additional, Gasteiger, Lukas M., additional, Göschl, Lisa, additional, Kojić, Marina, additional, Schroll, Andrea, additional, Seidel, Markus G., additional, Wintergerst, Uwe, additional, Wisgrill, Lukas, additional, Sharapova, Svetlana O., additional, Goffard, Jean-Christophe, additional, Kerre, Tessa, additional, Meyts, Isabelle, additional, Roosens, Fine, additional, Smet, Julie, additional, Haerynck, Filomeen, additional, Eric, Zelimir Pavle, additional, Milenova, Veneta, additional, Gagro, Alenka, additional, Richter, Darko, additional, Chovancova, Zita, additional, Hlavackova, Eva, additional, Litzman, Jiri, additional, Milota, Tomas, additional, Sediva, Anna, additional, Elaziz, Dalia Abd, additional, Alkady, Radwa Salaheldin, additional, El Sayed El Hawary, Rabab, additional, Eldash, Alia S., additional, Galal, Nermeen, additional, Lotfy, Sohilla, additional, Meshaal, Safa S., additional, Reda, Shereen M., additional, Sobh, Ali, additional, Elmarsafy, Aisha, additional, Brosselin, Pauline, additional, Courteille, Virginie, additional, De Vergnes, Nathalie, additional, Kracker, Sven, additional, Pergent, Martine, additional, Randrianomenjanahary, Philippe, additional, Ahrenstorf, Gerrit, additional, Albert, Michael H., additional, Ankermann, Tobias, additional, Atschekzei, Faranaz, additional, Baumann, Ulrich, additional, Becker, Benjamin C., additional, Behrends, Uta, additional, Belohradsky, Bernd H., additional, Biegner, Anika-Kerstin, additional, Binder, Nadine, additional, Bode, Sebastian F.N., additional, Boesecke, Christoph, additional, Boetticher, Benedikt, additional, Borte, Michael, additional, Borte, Stephan, additional, Classen, Carl Friedrich, additional, Dirks, Johannes, additional, Dückers, Gregor, additional, El-Helou, Sabine, additional, Ernst, Diana, additional, Fasshauer, Maria, additional, Fecker, Gisela, additional, Felgentreff, Kerstin, additional, Foell, Dirk, additional, Ghosh, Sujal, additional, Girschick, Hermann J., additional, Goldacker, Sigune, additional, Graf, Norbert, additional, Graf, Dagmar, additional, Greil, Johann, additional, Hanitsch, Leif Gunnar, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heine, Sabine I., additional, Henes, Joerg C., additional, Hoenig, Manfred, additional, Holzer, Ursula, additional, Holzinger, Dirk, additional, Horneff, Gerd, additional, Hundsdoerfer, Patrick, additional, Jablonka, Alexandra, additional, Jakoby, Donate, additional, Joean, Oana, additional, Kaiser-Labusch, Petra, additional, Klemann, Christian, additional, Kobbe, Robin, additional, Körholz, Julia, additional, Kramm, Christof M., additional, Krüger, Renate, additional, Landwehr-Kenzel, Sybille, additional, Lehmberg, Kai, additional, Liese, Johannes G., additional, Lippert, Conrad Ferdinand, additional, Maccari, Maria Elena, additional, Masjosthusmann, Katja, additional, Meinhardt, Andrea, additional, Metzler, Markus, additional, Morbach, Henner, additional, Müller, Ingo, additional, Naumann-Bartsch, Nora, additional, Neubert, Jennifer, additional, Niehues, Tim, additional, Peter, Hans-Hartmut, additional, Rieber, Nikolaus, additional, Ritterbusch, Henrike, additional, Rockstroh, Jürgen Kurt, additional, Roesler, Joachim, additional, Schauer, Uwe, additional, Scheible, Raphael, additional, Schmalzing, Marc, additional, Schmidt, Reinhold Ernst, additional, Schneider, Dominik T., additional, Schreiber, Stefan, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Schulze-Koops, Hendrik, additional, Schulze-Sturm, Ulf, additional, Schuster, Volker, additional, Schwaneck, Eva C., additional, Schwarz, Klaus, additional, Schwarze-Zander, Carolynne, additional, Sirin, Mehtap, additional, Skapenko, Alla, additional, Sogkas, Georgios, additional, Sparber-Sauer, Monika, additional, Speckmann, Carsten, additional, Steinmann, Sandra, additional, Stiehler, Sophie, additional, Tenbrock, Klaus, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Wasmuth, Jan-Christian, additional, Weiss, Michael, additional, Witte, Torsten, additional, Wittke, Kirsten, additional, Wittkowski, Helmut, additional, Zeuner, Rainald A., additional, Farmaki, Evangelia, additional, Hatzistilianou, Maria N., additional, Kakkas, Ioannis, additional, Kanariou, Maria G., additional, Kapousouzi, Androniki, additional, Liatsis, Emmanouil, additional, Maggina, Paraskevi, additional, Papadopoulou-Alataki, Efimia, additional, Raptaki, Maria, additional, Speletas, Matthaios, additional, Tantou, Sofia, additional, Goda, Vera, additional, Kriván, Gergely, additional, Marodi, Laszlo, additional, Abolhassani, Hassan, additional, Aghamohammadi, Asghar, additional, Rezaei, Nima, additional, Feighery, Conleth, additional, Leahy, Timothy Ronan, additional, Ryan, Paul, additional, Batzir, Nurit Assia, additional, Garty, Ben Zion, additional, Tamary, Hannah, additional, Aiuti, Alessandro, additional, Amodio, Donato, additional, Azzari, Chiara, additional, Barzaghi, Federica, additional, Baselli, Lucia A., additional, Cancrini, Caterina, additional, Carrabba, Maria, additional, Cazzaniga, Marco, additional, Cesaro, Simone, additional, Chinello, Matteo, additional, Danieli, Maria Giovanna, additional, Dellepiane, Rosa Maria, additional, Fabio, Giovanna, additional, Gambineri, Eleonora, additional, Lodi, Lorenzo, additional, Lougaris, Vassilios, additional, Marasco, Carolina, additional, Martire, Baldassarre, additional, Marzollo, Antonio, additional, Milito, Cinzia, additional, Moschese, Viviana, additional, Pignata, Claudio, additional, Plebani, Alessandro, additional, Porta, Fulvio, additional, Quinti, Isabella, additional, Ricci, Silvia, additional, Soresina, Annarosa, additional, Tommasini, Alberto, additional, Vacca, Angelo, additional, Vanessa, Clementina, additional, Blažienė, Audra, additional, Sitkauskiene, Brigita, additional, Gowin, Ewelina, additional, Heropolitańska-Pliszka, Edyta, additional, Pietrucha, Barbara, additional, Szaflarska, Anna, additional, Więsik-Szewczyk, Ewa, additional, Wolska-Kuśnierz, Beata, additional, Esteves, Isabel, additional, Faria, Emilia, additional, Marques, Laura Hora, additional, Neves, João Farela, additional, Silva, Susana L., additional, Teixeira, Carla, additional, Pereira da Silva, Sara, additional, Capilna, Brindusa Ruxandra, additional, Guseva, Marina N., additional, Shcherbina, Anna, additional, Bobcakova, Anna, additional, Ciznar, Peter, additional, Gabzdilova, Juliana, additional, Jesenak, Milos, additional, Kapustova, Lenka, additional, Orosova, Jaroslava, additional, Petrovicova, Otilia, additional, Raffac, Stefan, additional, Kopač, Peter, additional, Allende, Luis M., additional, Antolí, Arnau, additional, Blanch, Gemma Rocamora, additional, Carbone, Javier, additional, Dieli-Crimi, Romina, additional, Garcia-Prat, Marina, additional, Gil-Herrera, Juana, additional, Gonzalez-Granado, Luis Ignacio, additional, Agulló, Pilar Llobet, additional, Olbrich, Peter, additional, Parra-Martínez, Alba, additional, Paz-Artal, Estela, additional, Pleguezuelo, Daniel E., additional, Rodríguez, Nerea Salmón, additional, Sánchez-Ramón, Silvia, additional, Santos-Pérez, Juan Luis, additional, Solanich, Xavier, additional, Soler-Palacin, Pere, additional, González-Amores, Miriam, additional, Ekwall, Olov, additional, Fasth, Anders, additional, Bitzenhofer-Grüber, Michaela, additional, Candotti, Fabio, additional, Dimitriou, Florentia, additional, Heininger, Ulrich, additional, Holbro, Andreas, additional, Jandus, Peter, additional, Kolios, Antonios G.A., additional, Marschall, Karin, additional, Schmid, Jana Pachlopnik, additional, Posfay-Barbe, Klara M., additional, Prader, Seraina, additional, Reichenbach, Janine, additional, Steiner, Urs C., additional, Trück, Johannes, additional, Bredius, Robbert G., additional, de Kruijf- Bazen, Suzanne, additional, de Vries, Esther, additional, Henriet, Stefanie S.V., additional, Kuijpers, Taco W., additional, Potjewijd, Judith, additional, Rutgers, Abraham, additional, Stol, Kim, additional, van Aerde, Koen J., additional, Van den Berg, J. Merlijn, additional, van de Ven, Annick A.J.M., additional, Montfrans, Jorisvan, additional, Aydemir, Sezin, additional, Baris, Safa, additional, Dogu, Figen, additional, Ikinciogullari, Aydan, additional, Karakoc-Aydiner, Elif, additional, Kilic, Sara S., additional, Kiykim, Ayca, additional, Kökçü Karadağ, Şefika İlknur, additional, Kutukculer, Necil, additional, Ocak, Suheyla, additional, UNAL, Ekrem, additional, Boyarchuk, Oksana, additional, Hilfanova, Anna, additional, Kostyuchenko, Larysa V., additional, Alachkar, Hana, additional, Arkwright, Peter D., additional, Baxendale, Helen E., additional, Bernatoniene, Jolanta, additional, Coulter, Tanya I., additional, Garcez, Tomaz, additional, Goddard, Sarah, additional, Gompels, Mark M., additional, Grigoriadou, Sofia, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Ibberson, Lisa, additional, Nademi, Zoreh, additional, Noorani, Sadia, additional, Parvin, Shahnaz, additional, Steele, Cathal Laurence, additional, Thomas, Moira, additional, Waruiru, Catherine, additional, Yong, Patrick F.K., additional, and Bourne, Helen, additional

Published
2021
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18. MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes

Author

El Hawary, Rabab E, Mauracher, Andrea A, Meshaal, Safa S, Eldash, Alia, Abd Elaziz, Dalia S, Alkady, Radwa, Lotfy, Sohilla, Opitz, Lennart, Galal, Nermeen M, Boutros, Jeannette A, Pachlopnik Schmid, Jana, Elmarsafy, Aisha M, University of Zurich, and El Hawary, Rabab E

Subjects
10036 Medical Clinic, 2723 Immunology and Allergy, 610 Medicine & health
Published
2019

20. Evaluation of the S100 protein A12 as a biomarker of neonatal sepsis.

Author

Tosson, Angie M. S., Glaser, Kirsten, Weinhage, Toni, Foell, Dirk, Aboualam, Mohamed S., Edris, Amira A., El Ansary, Mervat, Lotfy, Sohilla, and Speer, Christian P.

Subjects
BIOMARKERS, NEONATAL sepsis, PREMATURE rupture of fetal membranes, NEONATAL infections, BLOOD cell count, LOGISTIC regression analysis, NEONATAL mortality
Abstract

Introduction: Sepsis has a grave impact on neonatal morbidity and mortality. Proper timely diagnosis and a subsequently tailored management are crucial to improving neonatal outcome and survival. New diagnostic methods are needed and much effort is directed to this objective. In this work, we aimed to evaluate S100A12 protein as a biomarker of neonatal sepsis.Materials and methods: In this prospective single-center study, 118 preterm and term neonates were enrolled and assigned to four groups: controls, infants with no infection, infants with probable infection and infants with proven infection. Clinical and routine laboratory data, the serum levels of S100A12 and additional cytokines (interleukin (IL)-1β, IL-2, IL-6, IL-17A, IL-18, IL-22, IL-10, and interferon (IFN)-γ) were assessed. Using stepwise multivariate logistic regression analysis, S100A12 protein was evaluated as a biomarker of neonatal infection.Results: Significant differences of the parameters of complete blood count and level of C-reactive protein were documented between the study/the four groups. The studied marker S100A12, as well as IL-6 and IL-10, were highly significant (p < .001) between infected and control groups. S100A12 had a sensitivity of 96.8% and a specificity of 93.3%. Even after adjusting for the confounding factors sex, body weight, gestational age, mode of delivery, number of pregnancies, premature rupture of membranes, and preeclampsia S100A12 remained significant between the infected and control groups.Conclusions: S100A12 may be considered as a new biomarker of neonatal sepsis. [ABSTRACT FROM AUTHOR]

Published
2020
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21. Clinical and immunological features of four patients with activation‐induced cytidine deaminase deficiency: Renal amyloidosis and other presentations.

Author

Meshaal, Safa S., El Hawary, Rabab E., Abd Elaziz, Dalia S., Eldash, Alia, Darwish, Rania, Erfan, Aya, Lotfy, Sohilla, Saad, Mai M., Chohayeb, Engy A., Nagy, Mohamed S., Alkady, Radwa, Boutros, Jeannette A., Galal, Nermeen M., and Elmarsafy, Aisha M.

Subjects
*IMMUNOGLOBULIN class switching, *CYTIDINE deaminase, *DELAYED diagnosis, *GENETIC testing, *FLOW cytometry, *IMMUNOGLOBULIN M
Abstract

Introduction Methods Results Conclusion Activation‐induced cytidine deaminase (AID) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by increased susceptibility to infections, autoimmunity, and/or autoinflammation. AID plays an important role in immunoglobulin class switching and somatic hypermutation. AID deficiency patients have very low or absent levels of IgG, IgA, and IgE, while IgM level is elevated. The disease is designated as type 2 hyperimmunoglobulin M syndrome (HIGM‐2). To date, around 130 patients with HIGM‐2 have been reported, none from Egypt.Four patients from three different consanguineous families with elevated serum IgM and low IgG and IgA were included in the study. After the exclusion of CD40 and/or CD40L deficiency by flow cytometry, patients’ samples were tested by a panel covering 452 genes (four bases PID‐Pro) on the Illumina Miseq platform.All patients suffered repeated infections since childhood. Patients 1–3 had inflammatory bowel disease‐like (IBD‐like) symptoms, while patient 4 did not have autoimmune manifestations. Patient 1 is the first HIGM‐2 patient to be reported to have renal amyloidosis as part of the autoinflammation. Patients 1–3 had the same pathogenic variant (NM_020661.4 (AID):c.406del, p.Ile136Ter), while patient 4 had another pathogenic variant (NM_020661.4 (AID):c.374G > A, p.Gly125Glu). The variant p.Ile136Ter was not reported before in any of the documented HIGM‐2 patients.HIGM‐2 is a rare IEI that can be overlooked; hence, patients’ diagnosis is delayed. Autoimmune and autoinflammatory manifestations develop later in the disease course leading to significant morbidities. The diagnosis can be suspected after exclusion of CD40/CD40L deficiencies by flow cytometry, and the diagnosis can be confirmed by genetic testing. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease.

Author

Meshaal, Safa, El Hawary, Rabab, Abd Elaziz, Dalia, Eldash, Alia, Darwish, Rania, Erfan, Aya, Lotfy, Sohilla, Saad, Mai M., Chohayeb, Engy, Alkady, Radwa, Boutros, Jeannette, Galal, Nermeen, and Elmarsafy, Aisha

Subjects
*RECESSIVE genes, *SKIN diseases, *NUCLEOTIDE sequencing, *T cells, *MISSENSE mutation, *IMMUNODEFICIENCY, *B cells, *ATOPIC dermatitis
Abstract

Background: Caspase recruitment domain family, member 11 (CARD11) is an important protein which plays a fundamental role in the activation of NF-κβ pathway in lymphocytes. CARD11 deficiency can be inherited in either autosomal dominant or autosomal recessive forms and present with different phenotypes including combined immunodeficiency, atopic dermatitis, and other variable manifestations. The present report describes clinical phenotypes and immunological defects of two unrelated patients with missense homozygous variants in CARD11 presenting with combined immunodeficiency (CID) and atopic skin disease resembling that reported in dominant negative CARD11 deficiency. The patients underwent next generation sequencing, immunophenotyping of T and B subsets by flow cytometry, T cell stimulation, and evaluation of CARD11 expression. Results: Both patients had features suggesting CID including repeated pneumoniae with ICU admissions, chronic diarrhea, and itchy atopic skin disease. Patient-1 has homozygous missense variant in the C terminal domain (c.2839G > A, p.Glu947Lys), and patient-2 has homozygous variant in the inhibitory domain (c.1073C > G, p.Pro568Arg). Both have profound defects in Tregs with normal recent thymic emigrants, memory, and naïve CD4+ T cells. However, in response to stimulation, T cells failed to upregulate the expression of CD25. CARD11 expression by flow cytometry was decreased rather than abolished as previously described in patients with autosomal recessive CARD11 deficiency. B cells showed marked deficiency of switched memory and increase in transitional B cells. Conclusion: Missense variants causing CARD11 deficiency may affect the protein function rather than the expression and can result in a phenotype combining the atopic skin disease and the features of CID. [ABSTRACT FROM AUTHOR]

Published
2024
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