Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity

We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency a...

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Detalles Bibliográficos
Autores principales: Lim, Xin Rong, Lai, Yi Wye, Chua, Choon Guan, Lim, Yen Loo, Lee, Siong See Joyce, Lim, Chia Wei, Thong, Yu-Hor Bernard, Tan, Wei-Lynn Justina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287108/
https://www.ncbi.nlm.nih.gov/pubmed/37388811
http://dx.doi.org/10.5415/apallergy.0000000000000103
Descripción
Sumario:We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing.

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