2例东南亚患者CTLA-4单倍体功能不全的自身免疫表现

IF 1.6 Q3 ALLERGY

Asia Pacific Allergy Pub Date : 2023-06-01 DOI:10.5415/apallergy.0000000000000103

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

引用次数: 0

摘要

我们报告2例患者首先出现皮肤表现，随后出现自身免疫现象、感染和低γ -球蛋白血症。他们最初被诊断为常见的可变免疫缺陷;然而，在基因和功能检测后，诊断被修改为细胞毒性t淋巴细胞抗原4单倍不全。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

查看原文本刊更多论文

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 after genetic and functional testing.

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来源期刊

Asia Pacific Allergy ALLERGY-

CiteScore

2.50

自引率

5.90%

发文量

期刊介绍： Asia Pacific Allergy (AP Allergy) is the official journal of the Asia Pacific Association of Allergy, Asthma and Clinical Immunology (APAAACI). Although the primary aim of the journal is to promote communication between Asia Pacific scientists who are interested in allergy, asthma, and clinical immunology including immunodeficiency, the journal is intended to be available worldwide. To enable scientists and clinicians from emerging societies appreciate the scope and intent of the journal, early issues will contain more educational review material. For better communication and understanding, it will include rational concepts related to the diagnosis and management of asthma and other immunological conditions. Over time, the journal will increase the number of original research papers to become the foremost citation journal for allergy and clinical immunology information of the Asia Pacific in the future.