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Page 1
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J, Lei WT, Zhang P, Rapaport F, Seeleuthner Y, Lyu B, Asano T, Rosain J, Hammadi B, Zhang Y, Pelham SJ, Spaan AN, Migaud M, Hum D, Bigio B, Chrabieh M, Béziat V, Bustamante J, Zhang SY, Jouanguy E, Boisson-Dupuis S, El Baghdadi J, Aimanianda V, Thoma K, Fliegauf M, Grimbacher B, Korganow AS, Saunders C, Rao VK, Uzel G, Freeman AF, Holland SM, Su HC, Cunningham-Rundles C, Fieschi C, Abel L, Puel A, Cobat A, Casanova JL, Zhang Q, Boisson B. Li J, et al. Among authors: korganow as. J Exp Med. 2021 Nov 1;218(11):e20210566. doi: 10.1084/jem.20210566. Epub 2021 Sep 2. J Exp Med. 2021. PMID: 34473196 Free PMC article.
Description of 214 cases of autoimmune congenital heart block: Results of the French neonatal lupus syndrome.
Levesque K, Morel N, Maltret A, Baron G, Masseau A, Orquevaux P, Piette JC, Barriere F, Le Bidois J, Fermont L, Fain O, Theulin A, Sassolas F, Pezard P, Amoura Z, Guettrot-Imbert G, Le Mercier D, Georgin-Lavialle S, Deligny C, Hachulla E, Mouthon L, Ravaud P, Villain E, Bonnet D, Costedoat-Chalumeau N; “Lupus néonatal” group; Group of collaborators. Levesque K, et al. Autoimmun Rev. 2015 Dec;14(12):1154-60. doi: 10.1016/j.autrev.2015.08.005. Epub 2015 Aug 15. Autoimmun Rev. 2015. PMID: 26284740 Review.
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
Gathmann B, Mahlaoui N; CEREDIH; Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID; van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party. Gathmann B, et al. J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24582312
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.
Guffroy A, Mourot-Cottet R, Gérard L, Gies V, Lagresle C, Pouliet A, Nitschké P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, André-Schmutz I, Korganow AS; DEFI study group. Guffroy A, et al. Among authors: korganow as. J Clin Immunol. 2017 Oct;37(7):715-726. doi: 10.1007/s10875-017-0434-2. Epub 2017 Aug 26. J Clin Immunol. 2017. PMID: 28842786
Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association.
Martinot M, Korganow AS, Wald M, Second J, Birckel E, Mahé A, Souply L, Mohseni-Zadeh M, Droy L, Tarabeux J, Okada S, Migaud M, Puel A, Guffroy A. Martinot M, et al. Among authors: korganow as. Front Immunol. 2021 Dec 20;12:760019. doi: 10.3389/fimmu.2021.760019. eCollection 2021. Front Immunol. 2021. PMID: 34987506 Free PMC article.
128 results