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4,043 results on '"Casanova Jean-Laurent"'

151. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Author

Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Uğurlu Çi̇men, Deniz, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Ly, Thanh Thao Nguyen, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., and Reversade, Bruno

Published
2021
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154. Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons.

Author

Le Stang, Valentine, Bastard, Paul, Langouet, Elise, Pineton de Chambrun, Marc, Chommeloux, Juliette, Gervais, Adrian, Bizien, Lucy, Puel, Anne, Cobat, Aurélie, Mayaux, Julien, Demoule, Alexandre, Casanova, Jean-Laurent, Boutolleau, David, Combes, Alain, Burrel, Sonia, and Luyt, Charles-Edouard

Abstract

Purpose: The pathogenesis of life-threatening coronavirus disease 2019 (COVID-19) pneumonia in ICU patients can involve pre-existing auto-antibodies (auto-Abs) neutralizing type I interferons (IFNs). The impact of these auto-Abs on SARS-CoV-2 clearance in the lower respiratory tract (LRT) is unclear. Methods: We performed a retrospective study in 99 ICU patients with COVID-19 pneumonia between March and May 2020. LRT SARS-CoV-2 load (intensity and duration) was analyzed according to the presence or not of circulating auto-Abs neutralizing type I IFNs. Results: Among the 99 included patients, 38 (38%) were positive for auto-Abs neutralizing type I IFNs, with 5 (5%) harboring auto-Abs neutralizing IFN-α2 at any concentration, while 33 (33%) had auto-Abs neutralizing only IFN-ω at the lower concentration. SARS-CoV-2 load in the LRT and duration of viral shedding, were similar in patients with or without auto-Abs neutralizing type I IFNs. Patients with auto-Abs had the same mortality than those without auto-Abs, despite greater occurrence of renal failure and ECMO support, and longer duration of mechanical ventilation and ICU stay. Conclusion: In summary, 5% of patients with critical COVID-19 pneumonia carried auto-Abs neutralizing IFN-α2, while about 1/3 harbored auto-Abs neutralizing low concentrations of IFN-ω. The detection of either type of auto-Abs did not impact LRT viral clearance and mortality, although it was associated with greater morbidity and a longer hospitalization. These findings suggest that similar albeit hitherto unknown mechanisms of disease drive critical COVID-19 pneumonia in patients without auto-Abs against type I IFNs. [ABSTRACT FROM AUTHOR]

Published
2025
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155. A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.

Author

Baran, Alperen, Atılgan Lülecioğlu, Aysima, Gao, Liwei, Yazıcı, Yılmaz Yücehan, Demirel, Fevzi, Metin, Ayşe, Casanova, Jean-Laurent, Puel, Anne, Voyer, Tom Le, Beyaz, Şengül, and Belkaya, Serkan

Abstract

We studied a family with three male individuals across two generations affected by common variable immune deficiency (CVID). We identified a novel missense heterozygous variant (c.2602T>A:p.Y868N) of NFKB2 in all patients and not in healthy relatives. Functional studies of the mutant allele in an overexpression system and of the patients’ cells confirmed the deleteriousness of the NFKB2 variant and genotype, respectively, on the activation of the non-canonical NF-κB signaling pathway. Impaired processing of p100 into p52 underlies p100 accumulation, which results in gain-of-function (GOF) of IκBδ inhibitory activity and loss-of-function (LOF) of p52 transcriptional activity. The three patients’ plasma contained autoantibodies that neutralized IFN-α2 and/or IFN-ω, accounting for the severe or recurrent viral diseases of the patients, including influenza pneumonia in one sibling, and severe COVID-19 and recurrent herpes labialis in another. Our results confirm that NFKB2 alleles that are IκBδ GOF and p52 LOF can underlie CVID and drive the production of autoantibodies neutralizing type I IFNs, thereby predisposing to severe viral diseases. [ABSTRACT FROM AUTHOR]

Published
2025
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156. Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Author

Ogishi, Masato, Yang, Rui, Aytekin, Caner, Langlais, David, Bourgey, Mathieu, Khan, Taushif, Ali, Fatima Al, Rahman, Mahbuba, Delmonte, Ottavia M., Chrabieh, Maya, Zhang, Peng, Gruber, Conor, Pelham, Simon J., Spaan, András N., Rosain, Jérémie, Lei, Wei-Te, Drutman, Scott, Hellmann, Matthew D., Callahan, Margaret K., Adamow, Matthew, Wong, Phillip, Wolchok, Jedd D., Rao, Geetha, Ma, Cindy S., Nakajima, Yuka, Yaguchi, Tomonori, Chamoto, Kenji, Williams, Samuel C., Emile, Jean-Francois, Rozenberg, Flore, Glickman, Michael S., Rapaport, Franck, Kerner, Gaspard, Allington, Garrett, Tezcan, Ilhan, Cagdas, Deniz, Hosnut, Ferda O., Dogu, Figen, Ikinciogullari, Aydan, Rao, V. Koneti, Kainulainen, Leena, Béziat, Vivien, Bustamante, Jacinta, Vilarinho, Silvia, Lifton, Richard P., Boisson, Bertrand, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Notarangelo, Luigi D., Tangye, Stuart G., Honjo, Tasuku, Gros, Philippe, Boisson-Dupuis, Stéphanie, and Casanova, Jean-Laurent

Published
2021
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158. A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

Author

Yamashita, Motoi, Kuehn, Hye Sun, Okuyama, Kazuki, Okada, Satoshi, Inoue, Yuzaburo, Mitsuiki, Noriko, Imai, Kohsuke, Takagi, Masatoshi, Kanegane, Hirokazu, Takeuchi, Masahiro, Shimojo, Naoki, Tsumura, Miyuki, Padhi, Aditya K., Zhang, Kam Y. J., Boisson, Bertrand, Casanova, Jean-Laurent, Ohara, Osamu, Rosenzweig, Sergio D., Taniuchi, Ichiro, and Morio, Tomohiro

Published
2021
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159. Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings

Author

Imanaka, Yusuke, Taniguchi, Maki, Doi, Takehiko, Tsumura, Miyuki, Nagaoka, Rie, Shimomura, Maiko, Asano, Takaki, Kagawa, Reiko, Mizoguchi, Yoko, Karakawa, Shuhei, Arihiro, Koji, Imai, Kohsuke, Morio, Tomohiro, Casanova, Jean-Laurent, Puel, Anne, Ohara, Osamu, Kamei, Katsuhiko, Kobayashi, Masao, and Okada, Satoshi

Published
2021
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162. Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

Author

Oleaga-Quintas, Carmen, de Oliveira-Júnior, Edgar Borges, Rosain, Jérémie, Rapaport, Franck, Deswarte, Caroline, Guérin, Antoine, Sajjath, Sairaj Munavar, Zhou, Yu Jerry, Marot, Stéphane, Lozano, Claire, Branco, Lidia, Fernández-Hidalgo, Nuria, Lew, Dukhee Betty, Brunel, Anne-Sophie, Thomas, Caroline, Launay, Elise, Arias, Andrés Augusto, Cuffel, Alexis, Monjo, Vanesa Cunill, Neehus, Anna-Lena, Marques, Laura, Roynard, Manon, Moncada-Vélez, Marcela, Gerçeker, Bengü, Colobran, Roger, Vigué, Marie-Gabrielle, Lopez-Herrera, Gabriela, Berron-Ruiz, Laura, Méndez, Nora Hilda Segura, O’Farrill Romanillos, Patricia, Le Voyer, Tom, Puel, Anne, Bellanné-Chantelot, Christine, Ramirez, Kacy A., Lorenzo-Diaz, Lazaro, Alejo, Noé Ramirez, de Diego, Rebeca Pérez, Condino-Neto, Antonio, Mellouli, Fethi, Rodriguez-Gallego, Carlos, Witte, Torsten, Restrepo, José Franco, Jobim, Mariana, Boisson-Dupuis, Stéphanie, Jeziorski, Eric, Fieschi, Claire, Vogt, Guillaume, Donadieu, Jean, Pasquet, Marlène, Vasconcelos, Julia, Ardeniz, Fatma Omur, Martínez-Gallo, Mónica, Campos, Regis A., Jobim, Luiz Fernando, Martínez-Barricarte, Rubén, Liu, Kang, Cobat, Aurélie, Abel, Laurent, Casanova, Jean-Laurent, and Bustamante, Jacinta

Published
2021
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164. Unraveling the Immune Signature of Herpes Zoster: Insights Into the Pathophysiology and Human Leukocyte Antigen Risk Profile.

Author

Vandoren, Romi, Boeren, Marlies, Schippers, Jolien, Bartholomeus, Esther, Mullan, Kerry, Michels, Nele, Aerts, Olivier, Leysen, Julie, Bervoets, An, Lambert, Julien, Leuridan, Elke, Wens, Johan, Peeters, Karin, Emonds, Marie-Paule, Jansens, Hilde, Casanova, Jean-Laurent, Bastard, Paul, Suls, Arvid, Tendeloo, Viggo Van, and Ponsaerts, Peter

Subjects
HLA histocompatibility antigens, MAJOR histocompatibility complex, TYPE I interferons, HERPES zoster, GENOME-wide association studies
Abstract

The varicella-zoster virus (VZV) infects >95% of the population. VZV reactivation causes herpes zoster (HZ), known as shingles, primarily affecting the elderly and individuals who are immunocompromised. However, HZ can occur in otherwise healthy individuals. We analyzed the immune signature and risk profile in patients with HZ using a genome-wide association study across different UK Biobank HZ cohorts. Additionally, we conducted one of the largest HZ human leukocyte antigen association studies to date, coupled with transcriptomic analysis of pathways underlying HZ susceptibility. Our findings highlight the significance of the major histocompatibility complex locus for HZ development, identifying 5 protective and 4 risk human leukocyte antigen alleles. This demonstrates that HZ susceptibility is largely governed by variations in the major histocompatibility complex. Furthermore, functional analyses revealed the upregulation of type I interferon and adaptive immune responses. These findings provide fresh molecular insights into the pathophysiology and activation of innate and adaptive immune responses triggered by symptomatic VZV reactivation. [ABSTRACT FROM AUTHOR]

Published
2024
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165. Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.

Author

El Kettani, Assiya, Ouair, Hind, Marnissi, Farida, El Bakkouri, Jalila, Chevalier, Rémi, Lorenzo, Lazaro, Kholaiq, Halima, Béziat, Vivien, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, and Bousfiha, Ahmed Aziz

Subjects
HUMAN papillomavirus, CYTOPENIA, CD4 antigen, WARTS, IMMUNOPHENOTYPING
Abstract

Epidermodysplasia verruciformis (EV) is a rare genodermatosis caused by β-human papillomaviruses (HPV) in immunodeficient patients. EV is characterized by flat warts and pityriasis-like lesions and might be isolated or syndromic, associated with some other infectious manifestations. We report here three patients from two independent families, with syndromic EV for both of them. By whole exome sequencing, we found that the patients carry new homozygous variants in STK4, both leading to a premature stop codon. STK4 deficiency causes a combined immunodeficiency characterized by a broad infectious susceptibility to bacteria, viruses, and fungi. Auto-immune manifestations were also reported. Deep immunophenotyping revealed multiple cytopenia in the three affected patients, in particular deep CD4+ T cells deficiency. We report here the fourth and the fifth cases of the syndromic EV due to STK4 deficiency. [ABSTRACT FROM AUTHOR]

Published
2024
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166. Human determinants of age-dependent patterns of death from infection.

Author

Abel, Laurent and Casanova, Jean-Laurent

Subjects
*ENDEMIC diseases, *MICROBIAL virulence, *INFECTION, *AUTOANTIBODIES, *COMMUNICABLE diseases, *IMMUNOSENESCENCE
Abstract

Regardless of microbial virulence (i.e., the global infection-fatality ratio), age generally drives the prevalence of death from infection in unvaccinated humans. Four mortality patterns are recognized: the common U- and L-shaped curves of endemic infections and the unique W- and J-shaped curves of pandemic infections. We suggest that these patterns result from different sets of human genetic and immunological determinants. In this model, it is the interplay between (1) monogenic genotypes affecting immunity to primary infection that preferentially manifest early in life and related genotypes or their phenocopies, including auto-antibodies, which manifest later in life and (2) the occurrence and persistence of adaptive, acquired immunity to primary or cross-reactive infections, which shapes the age-dependent pattern of human deaths from infection. We suggest that the U, L, W, and J age-dependent patterns of death from infection result from the interplay between (1) genotypes affecting immunity to primary infection, related genotypes, or their phenocopies later in life and (2) the occurrence and persistence of adaptive, acquired immunity to primary or cross-reactive infections. [ABSTRACT FROM AUTHOR]

Published
2024
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167. IL-12 drives the differentiation of human T follicular regulatory cells.

Author

Castaño, Diana, Wang, Sidney, Atencio-Garcia, Segovia, Shields, Emily J., Rico, Maria C., Sharpe, Hannah, Bustamante, Jacinta, Feng, Allan, Le Coz, Carole, Romberg, Neil, Tobias, John W., Utz, Paul J., Henrickson, Sarah E., Casanova, Jean-Laurent, Bonasio, Roberto, and Locci, Michela

Subjects
T helper cells, REGULATORY T cells, B cells, CELL differentiation, GENETIC transcription
Abstract

T follicular regulatory (Tfr) cells can counteract the B cell helper activity of T follicular helper (Tfh) cells and hinder the production of antibodies against self-antigens or allergens. A mechanistic understanding of the cytokines initiating the differentiation of human regulatory T (Treg) cells into Tfr cells is still missing. Herein, we report that low doses of the pro-Tfh cytokine interleukin-12 (IL-12) drive the induction of a Tfr cell program on activated human Treg cells while also preserving their regulatory function. Mechanistically, we found that IL-12 led to STAT4 (signal transducer and activator of transcription 4) phosphorylation and binding to IL-12–driven follicular signature genes. Patients with inborn errors of immunity in the IL12RB1 gene presented with a strong decrease in circulating Tfr cells and produced higher levels of anti-actin autoantibodies in vivo. Overall, this study unveils IL-12 as an inducer of Tfr cell differentiation in vivo and provides an approach for the in vitro generation of human Tfr-like cells. Editor's summary: T follicular regulatory (Tfr) cells balance the activity of T follicular helper cells and suppress B cell responses to self-antigens and allergens. However, the key signals involved in Tfr cell differentiation, particularly in humans, remain incompletely understood. By screening the effects of multiple cytokines on human regulatory T cells, Castaño et al. identified interleukin-12 (IL-12) as the most potent inducer of Tfr cell differentiation in vitro. IL-12 promoted the acquisition of a follicular gene expression program and STAT4 (signal transducer and activator of transcription 4) binding at signature follicular loci. In addition, patients bearing mutations in the IL12RB1 gene displayed a strong decrease in circulating Tfr cells. Together, these findings identify IL-12 as a driver of human Tfr cell differentiation, thus enabling their in vitro generation. —Claire Olingy [ABSTRACT FROM AUTHOR]

Published
2024
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168. Human life within a narrow range: The lethal ups and downs of type I interferons.

Author

Crow, Yanick J. and Casanova, Jean-Laurent

Subjects
TYPE I interferons, VIRUS diseases, AUTOIMMUNE diseases, IMMUNITY
Abstract

The past 20 years have seen the definition of human monogenic disorders and their autoimmune phenocopies underlying either defective or enhanced type I interferon (IFN) activity. These disorders delineate the impact of type I IFNs in natural conditions and demonstrate that only a narrow window of type I IFN activity is beneficial. Insufficient type I IFN predisposes humans to life-threatening viral diseases (albeit unexpectedly few) with a central role in immunity to respiratory and cerebral viral infection. Excessive type I IFN, perhaps counterintuitively, appears to underlie a greater number of autoinflammatory and/or autoimmune conditions known as type I interferonopathies, whose study has revealed multiple molecular programs involved in the induction of type I IFN signaling. These observations suggest that the manipulation of type I IFN activity to within a physiological range may be clinically relevant for the prevention and treatment of viral and inflammatory diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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169. Insufficient type I IFN immunity underlies life-threatening COVID-19 pneumonia

Author

Bastard, Paul, Zhang, Qian, Cobat, Aurélie, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Abel, Laurent, and Casanova, Jean-Laurent

Subjects
Life-threatening COVID-19, Pneumonia, Type I interferons, Inborn errors of immunity, Autoantibodies, Biology (General), QH301-705.5
Abstract

We established the COVID Human Genetic Effort (www.covidhge.com) to discover the human genetic and immunological bases of the vast interindividual clinical variability between humans infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We found that about 3% of patients with life-threatening coronavirus disease 2019 (COVID-19) pneumonia were ill because of inborn errors of genes controlling type I interferon (IFN)-dependent immunity (which controls influenza virus), and at least 10% of patients with life-threatening COVID-19 pneumonia had neutralizing auto-Abs against some of the 17 individual type I IFNs. These findings indicate that impaired type I IFN immunity underlies life-threatening COVID-19 pneumonia in at least 13% of patients. These discoveries pave the way for further research into unexplained severe cases, and provide a rationale for preventing and treating the disease in individuals at risk, with recombinant type I IFNs.

Published
2021
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170. Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

Author

Yang, Rui, Mele, Federico, Worley, Lisa, Langlais, David, Rosain, Jérémie, Benhsaien, Ibithal, Elarabi, Houda, Croft, Carys A., Doisne, Jean-Marc, Zhang, Peng, Weisshaar, Marc, Jarrossay, David, Latorre, Daniela, Shen, Yichao, Han, Jing, Ogishi, Masato, Gruber, Conor, Markle, Janet, Al Ali, Fatima, Rahman, Mahbuba, Khan, Taushif, Seeleuthner, Yoann, Kerner, Gaspard, Husquin, Lucas T., Maclsaac, Julia L., Jeljeli, Mohamed, Errami, Abderrahmane, Ailal, Fatima, Kobor, Michael S., Oleaga-Quintas, Carmen, Roynard, Manon, Bourgey, Mathieu, El Baghdadi, Jamila, Boisson-Dupuis, Stéphanie, Puel, Anne, Batteux, Fréderic, Rozenberg, Flore, Marr, Nico, Pan-Hammarström, Qiang, Bogunovic, Dusan, Quintana-Murci, Lluis, Carroll, Thomas, Ma, Cindy S., Abel, Laurent, Bousfiha, Aziz, Di Santo, James P., Glimcher, Laurie H., Gros, Philippe, Tangye, Stuart G., Sallusto, Federica, Bustamante, Jacinta, and Casanova, Jean-Laurent

Published
2020
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172. Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

Author

Martin-Fernandez, Marta, Bravo García-Morato, María, Gruber, Conor, Murias Loza, Sara, Malik, Muhammad Nasir Hayat, Alsohime, Fahad, Alakeel, Abdullah, Valdez, Rita, Buta, Sofija, Buda, Guadalupe, Marti, Marcelo A., Larralde, Margarita, Boisson, Bertrand, Feito Rodriguez, Marta, Qiu, Xueer, Chrabieh, Maya, Al Ayed, Mohammed, Al Muhsen, Saleh, Desai, Jigar V., Ferre, Elise M.N., Rosenzweig, Sergio D., Amador-Borrero, Blanca, Bravo-Gallego, Luz Yadira, Olmer, Ruth, Merkert, Sylvia, Bret, Montserrat, Sood, Amika K., Al-rabiaah, Abdulkarim, Temsah, Mohamad Hani, Halwani, Rabih, Hernandez, Michelle, Pessler, Frank, Casanova, Jean-Laurent, Bustamante, Jacinta, Lionakis, Michail S., and Bogunovic, Dusan

Published
2020
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174. The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Author

Materna, Marie, primary, Delmonte, Ottavia M., additional, Bosticardo, Marita, additional, Momenilandi, Mana, additional, Conrey, Peyton E., additional, Charmeteau-De Muylder, Bénédicte, additional, Bravetti, Clotilde, additional, Bellworthy, Rebecca, additional, Cederholm, Axel, additional, Staels, Frederik, additional, Ganoza, Christian A., additional, Darko, Samuel, additional, Sayed, Samir, additional, Le Floc’h, Corentin, additional, Ogishi, Masato, additional, Rinchai, Darawan, additional, Guenoun, Andrea, additional, Bolze, Alexandre, additional, Khan, Taushif, additional, Gervais, Adrian, additional, Krüger, Renate, additional, Völler, Mirjam, additional, Palterer, Boaz, additional, Sadeghi-Shabestari, Mahnaz, additional, Langlois de Septenville, Anne, additional, Schramm, Chaim A., additional, Shah, Sanjana, additional, Tello-Cajiao, John J., additional, Pala, Francesca, additional, Amini, Kayla, additional, Campos, Jose S., additional, Lima, Noemia Santana, additional, Eriksson, Daniel, additional, Lévy, Romain, additional, Seeleuthner, Yoann, additional, Jyonouchi, Soma, additional, Ata, Manar, additional, Al Ali, Fatima, additional, Deswarte, Caroline, additional, Pereira, Anaïs, additional, Mégret, Jérôme, additional, Le Voyer, Tom, additional, Bastard, Paul, additional, Berteloot, Laureline, additional, Dussiot, Michaël, additional, Vladikine, Natasha, additional, Cardenas, Paula P., additional, Jouanguy, Emmanuelle, additional, Alqahtani, Mashael, additional, Hasan, Amal, additional, Thanaraj, Thangavel Alphonse, additional, Rosain, Jérémie, additional, Al Qureshah, Fahd, additional, Sabato, Vito, additional, Alyanakian, Marie Alexandra, additional, Leruez-Ville, Marianne, additional, Rozenberg, Flore, additional, Haddad, Elie, additional, Regueiro, Jose R., additional, Toribio, Maria L., additional, Kelsen, Judith R., additional, Salehi, Mansoor, additional, Nasiri, Shahram, additional, Torabizadeh, Mehdi, additional, Rokni-Zadeh, Hassan, additional, Changi-Ashtiani, Majid, additional, Vatandoost, Nasimeh, additional, Moravej, Hossein, additional, Akrami, Seyed Mohammad, additional, Mazloomrezaei, Mohsen, additional, Cobat, Aurélie, additional, Meyts, Isabelle, additional, Toyofuku, Etsushi, additional, Nishimura, Madoka, additional, Moriya, Kunihiko, additional, Mizukami, Tomoyuki, additional, Imai, Kohsuke, additional, Abel, Laurent, additional, Malissen, Bernard, additional, Al-Mulla, Fahd, additional, Alkuraya, Fowzan Sami, additional, Parvaneh, Nima, additional, von Bernuth, Horst, additional, Beetz, Christian, additional, Davi, Frédéric, additional, Douek, Daniel C., additional, Cheynier, Rémi, additional, Langlais, David, additional, Landegren, Nils, additional, Marr, Nico, additional, Morio, Tomohiro, additional, Shahrooei, Mohammad, additional, Schrijvers, Rik, additional, Henrickson, Sarah E., additional, Luche, Hervé, additional, Notarangelo, Luigi D., additional, Casanova, Jean-Laurent, additional, and Béziat, Vivien, additional

Published
2024
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175. A Genome-Wide Arrayed CRISPR Screen Reveals PLSCR1 as an Intrinsic Barrier to SARS-CoV-2 Entry

Author

Le Pen, Jeremie, primary, Paniccia, Gabrielle, additional, Bauer, Michael, additional, Hoffmann, H.-Heinrich, additional, Kinast, Volker, additional, Moncada-Velez, Marcela, additional, Pinharanda, Ana, additional, Ricardo-Lax, Inna, additional, Stenzel, Ansgar F, additional, Rosado-Olivieri, Edwin A, additional, Ashbrook, Alison W, additional, Dinnon, Kenneth H, additional, Doyle, William, additional, Freije, Catherine, additional, Hong, Seon-Hui, additional, Lee, Danyel, additional, Lewy, Tyler, additional, Luna, Joseph M, additional, Peace, Avery, additional, Schmidt, Carltin, additional, Schneider, Willia M, additional, Winkler, Roni, additional, Larson, Chloe, additional, McGinn, Timothy, additional, Menezes, Miriam-Rose, additional, Ramos-Espiritu, Lavoisier, additional, Banerjee, Priyam, additional, Poirier, John T, additional, Sanchez-Rivera, Francisco J, additional, Zhang, Qian, additional, Casanova, Jean-Laurent, additional, Carroll, Thomas S, additional, Glickman, J. Fraser, additional, Michailidis, Eleftherios, additional, Razooky, Brandon, additional, MacDonald, Margaret R, additional, and Rice, Charles M, additional

Published
2024
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176. ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis

Author

Guillet, Stephanie, primary, Lazarov, Tomi, additional, Jordan, Natasha, additional, Boisson, Bertrand, additional, Tello, Maria, additional, Craddock, Barbara, additional, Zhou, Ting, additional, Nishi, Chihiro, additional, Bareja, Rohan, additional, Yang, Hairu, additional, Rieux-Laucat, Frederic, additional, Fregel Lorenzo, Rosa Irene, additional, Dyall, Sabrina D., additional, Isenberg, David, additional, D'Cruz, David, additional, Lachmann, Nico, additional, Elemento, Olivier, additional, Viale, Agnes, additional, Socci, Nicholas D., additional, Abel, Laurent, additional, Nagata, Shigekazu, additional, Huse, Morgan, additional, Miller, W Todd, additional, Casanova, Jean-Laurent, additional, and Geissmann, Frédéric, additional

Published
2024
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178. Mycobacterium tuberculosis resisters despite HIV exhibit activated T cells and macrophages in their pulmonary alveoli

Author

Schurr, Erwin, primary, Dallmann-Sauer, Monica, additional, Fava, Vinicius, additional, Malherbe, Stephanus, additional, McDonald, Candice, additional, Orlova, Marianna, additional, Kroon, Elouise, additional, Cobat, Aurélie, additional, Boisson-Dupuis, Stéphanie, additional, Hoal, Eileen, additional, Abel, Laurent, additional, Möller, Marlo, additional, Casanova, Jean-Laurent, additional, Walzl, Gerhard, additional, and du Plessis, Nelita, additional

Published
2024
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180. Human autoantibodies neutralizing type I IFNs: From 1981 to 2023

Author

Bastard, Paul, primary, Gervais, Adrian, additional, Le Voyer, Tom, additional, Philippot, Quentin, additional, Cobat, Aurélie, additional, Rosain, Jérémie, additional, Jouanguy, Emmanuelle, additional, Abel, Laurent, additional, Zhang, Shen‐Ying, additional, Zhang, Qian, additional, Puel, Anne, additional, and Casanova, Jean‐Laurent, additional

Published
2024
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182. Critical COVID-19 Unveils the Link between Viral Particle Blood Dissemination and Prolonged Type I Interferon

Author

Saker, Kahina, primary, Mommert, Marine, additional, Oriol, Guy, additional, Generenaz, Laurence, additional, Cheynet, Valérie, additional, Bal, Antonin, additional, Bastard, Paul, additional, Casanova, Jean Laurent, additional, Roux, Emmanuel, additional, Brengel-Pesce, Karen, additional, Fleurie, Aurore, additional, Pons, Sylvie, additional, Barnel, Cécile, additional, Mokdad, Bouchra, additional, Wallet, Florent, additional, Terrier, Olivier, additional, Richard, Jean-Christophe, additional, and Assant, Sophie, additional

Published
2024
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183. Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

Author

Lévy, Romain, Okada, Satoshi, Béziat, Vivien, Moriya, Kunihiko, Liu, Caini, Chai, Louis Yi Ann, Migaud, Mélanie, Hauck, Fabian, Al Ali, Amein, Cyrus, Cyril, Vatte, Chittibabu, Patiroglu, Turkan, Unal, Ekrem, Ferneiny, Marie, Hyakuna, Nobuyuki, Nepesov, Serdar, Oleastro, Matias, Ikinciogullari, Aydan, Dogu, Figen, Asano, Takaki, Ohara, Osamu, Yun, Ling, Della Mina, Erika, Bronnimann, Didier, Itan, Yuval, Gothe, Florian, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Tahuil, Natalia, Aytekin, Caner, Salhi, Aicha, Al Muhsen, Saleh, Kobayashi, Masao, Toubiana, Julie, Abel, Laurent, Li, Xiaoxia, Camcioglu, Yildiz, Celmeli, Fatih, Klein, Christoph, AlKhater, Suzan A, Casanova, Jean-Laurent, and Puel, Anne

Subjects
Pediatric, Genetics, Clinical Research, Infectious Diseases, Rare Diseases, Emerging Infectious Diseases, Aetiology, 2.1 Biological and endogenous factors, Infection, Good Health and Well Being, Alleles, Bacterial Infections, Candida, Candidiasis, Cell Membrane, Child, Child, Preschool, Family Health, Female, Fibroblasts, Genes, Recessive, Genome-Wide Association Study, HEK293 Cells, Homozygote, Humans, Immunophenotyping, Infant, Infant, Newborn, Interleukin-17, Male, Mutation, Mycoses, Open Reading Frames, Pedigree, Receptors, Interleukin-17, Skin, T-Lymphocytes, genetics, immunodeficiency, candidiasis
Abstract

Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA) deficiency-was reported in 2011, in a single patient. We report here 21 patients with complete AR IL-17RA deficiency, including this first patient. Each patient is homozygous for 1 of 12 different IL-17RA alleles, 8 of which create a premature stop codon upstream from the transmembrane domain and have been predicted and/or shown to prevent expression of the receptor on the surface of circulating leukocytes and dermal fibroblasts. Three other mutant alleles create a premature stop codon downstream from the transmembrane domain, one of which encodes a surface-expressed receptor. Finally, the only known missense allele (p.D387N) also encodes a surface-expressed receptor. All of the alleles tested abolish cellular responses to IL-17A and -17F homodimers and heterodimers in fibroblasts and to IL-17E/IL-25 in leukocytes. The patients are currently aged from 2 to 35 y and originate from 12 unrelated kindreds. All had their first CMC episode by 6 mo of age. Fourteen patients presented various forms of staphylococcal skin disease. Eight were also prone to various bacterial infections of the respiratory tract. Human IL-17RA is, thus, essential for mucocutaneous immunity to Candida and Staphylococcus, but otherwise largely redundant. A diagnosis of AR IL-17RA deficiency should be considered in children or adults with CMC, cutaneous staphylococcal disease, or both, even if IL-17RA is detected on the cell surface.

Published
2016

185. Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Author

Drutman, Scott B., Haerynck, Filomeen, Zhong, Franklin L., Hum, David, Hernandez, Nicholas J., Belkaya, Serkan, Rapaport, Franck, de Jong, Sarah Jill, Creytens, David, Tavernier, Simon J., Bonte, Katrien, De Schepper, Sofie, van der Werff ten Bosch, Jutte, Lorenzo-Diaz, Lazaro, Wullaert, Andy, Bossuyt, Xavier, Orth, Gérard, Bonagura, Vincent R., Béziat, Vivien, Abel, Laurent, Jouanguy, Emmanuelle, Reversade, Bruno, and Casanova, Jean-Laurent

Published
2019

186. A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

Author

Khourieh, Joëlle, Rao, Geetha, Habib, Tanwir, Avery, Danielle T., Lefèvre-Utile, Alain, Chandesris, Marie-Olivia, Belkadi, Aziz, Chrabieh, Maya, Alwaseem, Hanan, Grandin, Virginie, Sarrot-Reynauld, Françoise, Sénéchal, Agathe, Lortholary, Olivier, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Picard, Capucine, Puel, Anne, Béziat, Vivien, Zhang, Qian, Abel, Laurent, Molina, Henrik, Marr, Nico, Tangye, Stuart G., Casanova, Jean-Laurent, and Boisson, Bertrand

Published
2019

188. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Author

Maffucci, Patrick, Bigio, Benedetta, Rapaport, Franck, Cobat, Aurélie, Borghesi, Alessandro, Lopez, Marie, Patin, Etienne, Bolze, Alexandre, Shang, Lei, Bendavid, Matthieu, Scott, Eric M., Stenson, Peter D., Cunningham-Rundles, Charlotte, Cooper, David N., Gleeson, Joseph G., Fellay, Jacques, Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Boisson, Bertrand, and Itan, Yuval

Published
2019

191. Human CRY1 variants associate with attention deficit/hyperactivity disorder

Author

Onat, O. Emre, Kars, M. Ece, Gul, Seref, Bilguvar, Kaya, Wu, Yiming, Ozhan, Ayse, Aydin, Cihan, Basak, A. Nazli, Trusso, M. Allegra, Goracci, Arianna, Fallerini, Chiara, Renieri, Alessandra, Casanova, Jean-Laurent, Itan, Yuval, Atbasoglu, Cem E., Saka, Meram C., Kavakli, Halil, and Ozcelik, Tayfun

Subjects
France. National Research Agency -- Analysis, Thermo Fisher Scientific Inc., Sleep -- Genetic aspects -- Analysis, Insomnia -- Genetic aspects, Medical schools -- Analysis, Scientific equipment industry -- Genetic aspects -- Analysis, Health care industry, Bilkent University
Abstract

Attention deficit/hyperactivity disorder (ADHD) is a common and heritable phenotype frequently accompanied by insomnia, anxiety, and depression. Here, using a reverse phenotyping approach, we report heterozygous coding variations in the core circadian clock gene cryptochrome 1 in 15 unrelated multigenerational families with combined ADHD and insomnia. The variants led to functional alterations in the circadian molecular rhythms, providing a mechanistic link to the behavioral symptoms. One variant, CRY1[DELTA]11 c.1657+3A>C, is present in approximately 1% of Europeans, therefore standing out as a diagnostic and therapeutic marker. We showed by exome sequencing in an independent cohort of patients with combined ADHD and insomnia that 8 of 62 patients and 0 of 369 controls carried CRY1[DELTA]11. Also, we identified a variant, CRY1[DELTA]6 c.825+1G>A, that shows reduced affinity for BMAL1/CLOCK and causes an arrhythmic phenotype. Genotype-phenotype correlation analysis revealed that this variant segregated with ADHD and delayed sleep phase disorder (DSPD) in the affected family. Finally, we found in a phenome-wide association study involving 9438 unrelated adult Europeans that CRY1[DELTA]11 was associated with major depressive disorder, insomnia, and anxiety. These results defined a distinctive group of circadian psychiatric phenotypes that we propose to designate as 'circiatric' disorders., Introduction Sleep is genetically regulated by the circadian rhythm. Disruption of this rhythm leads to aberrant sleep patterns (1-4). Sleep is also frequently disturbed in individuals with psychiatric disorders. For [...]

Published
2020
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192. Inherited human IFN-[gamma] deficiency underlies mycobacterial disease

Author

Kerner, Gaspard, Rosain, Jeremie, Guerin, Antoine, Al-Khabaz, Ahmad, Oleaga-Quintas, Carmen, Rapaport, Franck, Massaad, Michel J., Ding, Jing-Ya, Khan, Taushif, Ali, Fatima Al, Rahman, Mahbuba, Deswarte, Caroline, Martinez-Barricarte, Ruben, Geha, Raif S., Jeanne-Julien, Valentine, Garcia, Diane, Chi, Chih-Yu, Yang, Rui, Roynard, Manon, Fleckenstein, Bernhard, Rozenberg, Flore, Boisson-Dupuis, Stephanie, Ku, Cheng-Lung, Seeleuthner, Yoann, Beziat, Vivien, Marr, Nico, Abel, Laurent, Herz, Waleed Al-, Casanova, Jean-Laurent, and Bustamante, Jacinta

Subjects
France. National Research Agency, Bacterial infections -- Development and progression -- Genetic aspects, Vaccines, BCG -- Genetic aspects, Cytokines -- Genetic aspects, B cells -- Genetic aspects, Disease susceptibility -- Genetic aspects -- Development and progression, Gene mutation -- Genetic aspects, T cells -- Genetic aspects, Codons -- Genetic aspects, Health care industry
Abstract

Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective predisposition to clinical disease caused by the Bacille Calmette-Guerin (BCG) vaccine and environmental mycobacteria. The known genetic etiologies of MSMD are inborn errors of IFN-[gamma] immunity due to mutations of 15 genes controlling the production of or response to IFN-[gamma]. Since the first MSMD-causing mutations were reported in 1996, biallelic mutations in the genes encoding IFN-[gamma] receptor 1 (IFN-[gamma]R1) and IFN-[gamma]R2 have been reported in many patients of diverse ancestries. Surprisingly, mutations of the gene encoding the IFN-[gamma] cytokine itself have not been reported, raising the remote possibility that there might be other agonists of the IFN-[gamma] receptor. We describe 2 Lebanese cousins with MSMD, living in Kuwait, who are both homozygous for a small deletion within the IFNG gene (c.354_357del), causing a frameshift that generates a premature stop codon (p.T119Ifs4*). The mutant allele is loss of expression and loss of function. We also show that the patients' herpesvirus Saimiri-immortalized T lymphocytes did not produce IFN-[gamma], a phenotype that can be rescued by retrotransduction with WT IFNG cDNA. The blood T and NK lymphocytes from these patients also failed to produce and secrete detectable amounts of IFN-[gamma]. Finally, we show that human IFNG has evolved under stronger negative selection than IFNGR1 or IFNGR2, suggesting that it is less tolerant to heterozygous deleterious mutations than IFNGR1 or IFNGR2. This may account for the rarity of patients with autosomal-recessive, complete IFN-[gamma] deficiency relative to patients with complete IFN-[gamma]R1 and IFN- [gamma]R2 deficiencies., Introduction Mendelian susceptibility to mycobacterial disease (MSMD) (OMIM #209950) is characterized by a predisposition to severe disease caused by weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines and [...]

Published
2020
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193. Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

Author

Partanen, Terhi, Chen, Jie, Lehtonen, Johanna, Kuismin, Outi, Rusanen, Harri, Vapalahti, Olli, Vaheri, Antti, Anttila, Veli-Jukka, Bode, Michaela, Hautala, Nina, Vuorinen, Tytti, Glumoff, Virpi, Kraatari, Minna, Åström, Pirjo, Saarela, Janna, Kauma, Heikki, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko, and Hautala, Timo

Published
2020
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195. Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

Author

Kong, Xiao-Fei, Worley, Lisa, Rinchai, Darawan, Bondet, Vincent, Jithesh, Puthen Veettil, Goulet, Marie, Nonnotte, Emilie, Rebillat, Anne Sophie, Conte, Martine, Mircher, Clotilde, Gürtler, Nicolas, Liu, Luyan, Migaud, Mélanie, Elanbari, Mohammed, Habib, Tanwir, Ma, Cindy S., Bustamante, Jacinta, Abel, Laurent, Ravel, Aimé, Lyonnet, Stanislas, Munnich, Arnold, Duffy, Darragh, Chaussabel, Damien, Casanova, Jean-Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, and Puel, Anne

Published
2020
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196. Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients

Author

Mahdaviani, Seyed Alireza, Mansouri, Davood, Jamee, Mahnaz, Zaki-Dizaji, Majid, Aghdam, Karim Rahimi, Mortaz, Esmail, Khorasanizadeh, MirHojjat, Eskian, Mahsa, Movahedi, Mahshid, Ghaffaripour, Hosseinali, Baghaie, Nooshin, Hassanzad, Maryam, Chavoshzadeh, Zahra, Mansouri, Mahboubeh, Mesdaghi, Mehrnaz, Ghaini, Mehdi, Noori, Farzad, Eskandarzadeh, Shabnam, Kahkooi, Shahram, Poorabdolah, Mihan, Tabarsi, Payam, Moniri, Afshin, Farnia, Parisa, Karimi, Abdollah, Boisson-Dupuis, Stéphanie, Rezaei, Nima, Marjani, Majid, Casanova, Jean-Laurent, Bustamante, Jacinta, and Velayati, Ali Akbar

Published
2020
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198. IGF1R is an entry receptor for respiratory syncytial virus

Author

Griffiths, Cameron D., Bilawchuk, Leanne M., McDonough, John E., Jamieson, Kyla C., Elawar, Farah, Cen, Yuchen, Duan, Wenming, Lin, Cindy, Song, Haeun, Casanova, Jean-Laurent, Ogg, Steven, Jensen, Lionel Dylan, Thienpont, Bernard, Kumar, Anil, Hobman, Tom C., Proud, David, Moraes, Theo J., and Marchant, David J.

Published
2020
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200. Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

Author

Blancas-Galicia, Lizbeth, Santos-Chávez, Eros, Deswarte, Caroline, Mignac, Quentin, Medina-Vera, Isabel, León-Lara, Ximena, Roynard, Manon, Scheffler-Mendoza, Selma C, Rioja-Valencia, Ricardo, Alvirde-Ayala, Alexandra, Lugo Reyes, Saul O, Staines-Boone, Tamara, García-Campos, Jorge, Saucedo-Ramírez, Omar J, Del-Río_Navarro, Blanca E, Zamora-Chávez, Antonio, López-Larios, Arturo, García-Pavón-Osorio, Susana, Melgoza-Arcos, Eugenia, Canseco-Raymundo, María R, Mogica-Martínez, Dolores, Venancio-Hernández, Marco, Pacheco-Rosas, Daniel, Pedraza-Sánchez, Sigifredo, Guevara-Cruz, Martha, Saracho-Weber, Federico, Gámez-González, Berenise, Wakida-Kuzunoki, Guillermo, Morán-Mendoza, Ana R, Macías-Robles, Ana P, Ramírez-Rivera, Roselia, Vargas-Camaño, Eugenia, Zarate-Hernández, Carmen, Gómez-Tello, Héctor, Ramírez-Sánchez, Emmanuel, Ruíz-Hernández, Fredy, Ramos-López, Domingo, Acuña-Martínez, Héctor, García-Cruz, María L, Román-Jiménez, María G, González-Villarreal, Marina G, Álvarez-Cardona, Aristóteles, Llamas-Guillén, Beatriz A, Cuellar-Rodríguez, Jennifer, Olaya-Vargas, Alberto, Ramírez-Uribe, Nideshda, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Espinosa-Rosales, Francisco J, Serafín-López, Jeanet, Yamazaki-Nakashimada, Marco, Espinosa-Padilla, Sara, and Bustamante, Jacinta

Published
2020
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