Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

175 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Voyer TL, Debray JC, Stolzenberg MC, Pellé O, Becquard T, Riestra MR, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. Among authors: bole feysot c. medRxiv [Preprint]. 2024 May 17:2024.05.17.24307356. doi: 10.1101/2024.05.17.24307356. medRxiv. 2024. PMID: 38798321 Free PMC article. Preprint.
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.
Magerus-Chatinet A, Neven B, Stolzenberg MC, Daussy C, Arkwright PD, Lanzarotti N, Schaffner C, Cluet-Dennetiere S, Haerynck F, Michel G, Bole-Feysot C, Zarhrate M, Radford-Weiss I, Romana SP, Picard C, Fischer A, Rieux-Laucat F. Magerus-Chatinet A, et al. J Clin Invest. 2011 Jan;121(1):106-12. doi: 10.1172/JCI43752. Epub 2010 Dec 22. J Clin Invest. 2011. PMID: 21183795 Free PMC article.
A human immunodeficiency caused by mutations in the PIK3R1 gene.
Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A, Kracker S. Deau MC, et al. J Clin Invest. 2014 Sep;124(9):3923-8. doi: 10.1172/JCI75746. Epub 2014 Aug 18. J Clin Invest. 2014. PMID: 25133428 Free PMC article.
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.
de Cevins C, Luka M, Smith N, Meynier S, Magérus A, Carbone F, García-Paredes V, Barnabei L, Batignes M, Boullé A, Stolzenberg MC, Pérot BP, Charbit B, Fali T, Pirabakaran V, Sorin B, Riller Q, Abdessalem G, Beretta M, Grzelak L, Goncalves P, Di Santo JP, Mouquet H, Schwartz O, Zarhrate M, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Corneau A, Brunaud C, Zhang SY, Casanova JL, Bader-Meunier B, Haroche J, Melki I, Lorrot M, Oualha M, Moulin F, Bonnet D, Belhadjer Z, Leruez M, Allali S, Gras-Leguen C, de Pontual L; Pediatric-Biocovid Study Group; Fischer A, Duffy D, Rieux-Laucat F, Toubiana J, Ménager MM. de Cevins C, et al. Med. 2021 Sep 10;2(9):1072-1092.e7. doi: 10.1016/j.medj.2021.08.002. Epub 2021 Aug 14. Med. 2021. PMID: 34414385 Free PMC article.
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debré M, Sepulveda F, Héritier S, Lemale J, Talbotec C, Rieux-Laucat F, Ruemmele F, Morali A, Cathebras P, Nitschke P, Bole-Feysot C, Blanche S, Brousse N, Picard C, Clevers H, Fischer A, de Saint Basile G. Lemoine R, et al. J Allergy Clin Immunol. 2014 Dec;134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019. Epub 2014 Aug 28. J Allergy Clin Immunol. 2014. PMID: 25174867
A human immunodeficiency caused by mutations in the PIK3R1 gene.
Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A, Kracker S. Deau MC, et al. J Clin Invest. 2015 Apr;125(4):1764-5. doi: 10.1172/JCI81746. Epub 2015 Apr 1. J Clin Invest. 2015. PMID: 25831445 Free PMC article. No abstract available.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. Rosain J, et al. J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. J Clin Immunol. 2018. PMID: 29995221 Free PMC article. Review.
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort… See abstract for full author list ➔ Zhang Q, et al. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, 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 AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19… See abstract for full author list ➔ Bastard P, et al. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep 24. Science. 2020. PMID: 32972996 Free PMC article.
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 Free PMC article.
175 results