A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells
Tài liệu tham khảo
Hutloff A, Dittrich AM, Beier KC, Eljaschewitsch B, Kraft R, Anagnostopoulos I, et al. ICOS is an inducible T-cell co-stimulator structurally and functionally related to CD28. Nature. 1999;397(6716):263–6.
Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, et al. 14 years after discovery: clinical follow-up on 15 patients with inducible co-stimulator deficiency. Front Immunol. 2017;8:964.
Abolhassani H, El-Sherbiny YM, Arumugakani G, Carter C, Richards S, Lawless D, et al. Expanding clinical phenotype and novel insights into the pathogenesis of ICOS deficiency. J Clin Immunol. 2020;40(2):277–88.
Takahashi N, Matsumoto K, Saito H, Nanki T, Miyasaka N, Kobata T, et al. Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients. J Immunol. 2009;182(9):5515–27.
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40(1):66–81.
Chou J, Massaad MJ, Cangemi B, Bainter W, Platt C, Badran YR, et al. A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J Allergy Clin Immunol. 2015;136(3):794–7 e1.
Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, et al. Astute clinician report: a novel 10 bp frameshift deletion in exon 2 of ICOS causes a combined immunodeficiency associated with an enteritis and hepatitis. J Clin Immunol. 2015;35(7):598–603.
Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Belohradsky BH, Litzman J, et al. ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol. 2004;113(3):234–40.
Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 2003;4(3):261–8.
Garcia-Prat M, Alvarez-Sierra D, Aguilo-Cucurull A, Salgado-Perandres S, Briongos-Sebastian S, Franco-Jarava C, et al. Extended immunophenotyping reference values in a healthy pediatric population. Cytometry B Clin Cytom. 2019;96(3):223–33.
Kiykim A, Ogulur I, Dursun E, Charbonnier LM, Nain E, Cekic S, et al. Abatacept as a long-term targeted therapy for LRBA deficiency. J Allergy Clin Immunol Pract. 2019;7(8):2790–800 e15.
