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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. 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.
Granulomatous disease in common variable immunodeficiency.
Mechanic LJ, Dikman S, Cunningham-Rundles C. Mechanic LJ, et al. Ann Intern Med. 1997 Oct 15;127(8 Pt 1):613-7. doi: 10.7326/0003-4819-127-8_part_1-199710150-00005. Ann Intern Med. 1997. PMID: 9341059
Common variable immunodeficiency.
Cunningham-Rundles C. Cunningham-Rundles C. Curr Allergy Asthma Rep. 2001 Sep;1(5):421-9. doi: 10.1007/s11882-001-0027-1. Curr Allergy Asthma Rep. 2001. PMID: 11892068 Review.
ICOS deficiency in patients with common variable immunodeficiency.
Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Belohradsky BH, Litzman J, Holm A, Franco JL, Plebani A, Hammarstrom L, Skrabl A, Schwinger W, Grimbacher B. Salzer U, et al. Clin Immunol. 2004 Dec;113(3):234-40. doi: 10.1016/j.clim.2004.07.002. Clin Immunol. 2004. PMID: 15507387
Pulmonary complications of common variable immunodeficiency.
Busse PJ, Farzan S, Cunningham-Rundles C. Busse PJ, et al. Ann Allergy Asthma Immunol. 2007 Jan;98(1):1-8; quiz 8-11, 43. doi: 10.1016/S1081-1206(10)60853-8. Ann Allergy Asthma Immunol. 2007. PMID: 17225714 Review.
399 results