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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

86 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Materna M, Delmonte OM, Bosticardo M, Momenilandi M, Conrey PE, Charmeteau-De Muylder B, Bravetti C, Bellworthy R, Cederholm A, Staels F, Ganoza CA, Darko S, Sayed S, Le Floc'h C, Ogishi M, Rinchai D, Guenoun A, Bolze A, Khan T, Gervais A, Krüger R, Völler M, Palterer B, Sadeghi-Shabestari M, Langlois de Septenville A, Schramm CA, Shah S, Tello-Cajiao JJ, Pala F, Amini K, Campos JS, Lima NS, Eriksson D, Lévy R, Seeleuthner Y, Jyonouchi S, Ata M, Al Ali F, Stittrich A, Deswarte C, Pereira A, Mégret J, Le Voyer T, Bastard P, Berteloot L, Dussiot M, Vladikine N, Cardenas PP, Jouanguy E, Alqahtani M, Hasan A, Thanaraj TA, Rosain J, Al Qureshah F, Sabato V, Alyanakian MA, Leruez-Ville M, Rozenberg F, Haddad E, Regueiro JR, Toribio ML, Kelsen JR, Salehi M, Nasiri S, Torabizadeh M, Rokni-Zadeh H, Changi-Ashtiani M, Vatandoost N, Moravej H, Akrami SM, Mazloomrezaei M, Cobat A, Meyts I, Toyofuku E, Nishimura M, Moriya K, Mizukami T, Imai K, Abel L, Malissen B, Al-Mulla F, Alkuraya FS, Parvaneh N, von Bernuth H, Beetz C, Davi F, Douek DC, Cheynier R, Langlais D, Landegren N, Marr N, Morio T, Shahrooei M, Schrijvers R, Henrickson SE, Luche H, Notarangelo LD, Casanova JL, Béziat V. Materna M, et al. Among authors: rosain j. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1. Science. 2024. PMID: 38422122 Free PMC article.
Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2.
Dominguez-Pinilla N, Allende LM, Rosain J, Gallego MDC, Chaves F, Deswarte C, Viedma E, de Inocencio Arocena J, Ruiz-Contreras J, Bustamante J, Gonzalez-Granado LI. Dominguez-Pinilla N, et al. Among authors: rosain j. J Allergy Clin Immunol Pract. 2018 Sep-Oct;6(5):1796-1798.e2. doi: 10.1016/j.jaip.2018.02.014. Epub 2018 Mar 1. J Allergy Clin Immunol Pract. 2018. PMID: 29486251 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.
Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Nekooie-Marnany N, Deswarte C, Ostadi V, Bagherpour B, Taleby E, Ganjalikhani-Hakemi M, Le Voyer T, Rahimi H, Rosain J, Pourmoghadas Z, Sheikhbahaei S, Khoshnevisan R, Petersheim D, Kotlarz D, Klein C, Boisson-Dupuis S, Casanova JL, Bustamante J, Sherkat R. Nekooie-Marnany N, et al. Among authors: rosain j. J Clin Immunol. 2018 Oct;38(7):787-793. doi: 10.1007/s10875-018-0548-1. Epub 2018 Sep 25. J Clin Immunol. 2018. PMID: 30255293 Free PMC article.
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.
Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, Okada S, Boisson-Dupuis S, Casanova JL, Bustamante J. Rosain J, et al. Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25. Immunol Cell Biol. 2019. PMID: 30264912 Free PMC article. Review.
Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.
Hadjadj J, Guffroy A, Delavaud C, Taieb G, Meyts I, Fresard A, Streichenberger N, L'Honneur AS, Rozenberg F, D'Aveni M, Aguilar C, Rosain J, Picard C, Mahlaoui N, Lecuit M, Hermine O, Lortholary O, Suarez F. Hadjadj J, et al. Among authors: rosain j. J Clin Immunol. 2019 Jan;39(1):55-64. doi: 10.1007/s10875-018-0578-8. Epub 2018 Dec 14. J Clin Immunol. 2019. PMID: 30552536
Inherited human IFN-γ deficiency underlies mycobacterial disease.
Kerner G, Rosain J, Guérin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Ali FA, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia D, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Béziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J. Kerner G, et al. Among authors: rosain j. J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460. J Clin Invest. 2020. PMID: 32163377 Free PMC article.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: rosain j. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
86 results