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KMID : 1143120230130020088
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Asia Pacific Allergy
2023 Volume.13 No. 2 p.88 ~ p.90
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Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
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Xin Rong Lim
Yi Wye Lai
Choon Guan Chua
Yen Loo Lim
Siong See Joyce Lee
Chia Wei Lim
Yu-Hor Bernard Thong
Wei-Lynn Justina Tan
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Abstract
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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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KEYWORD
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Common variable immunodeficiency, cytotoxic T-lymphocyte antigen 4 haploinsufficiency, hypogammaglobulinemia, nborn errors of immunity
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