J Hum Immun

Human ISG15 deficiency unveils impaired healing of ulcerations via type I interferon-mediated fibrosis.

IRF4 haploinsufficiency in a multiplex family with Whipple's disease.

Immune dysregulation from a novel CTLA-4 haploinsufficiency variant.

Leniolisib reduced lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome.

Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.

抑癌素 M 受体缺乏症是常染色体隐性高 IgE 综合征的一种新的候选遗传病因。

A heterozygous USB1 variant linked to immunodeficiency

一种与免疫缺陷相关的USB1杂合变异

Two different forms of inherited human TCRα chain deficiency

两种不同类型的人类遗传性TCRα链缺陷

ORAI1 mutation with mixed loss and gain of function properties causes immunodeficiency and HLH

ORAI1 基因突变兼具功能丧失和功能获得两种特性，可导致免疫缺陷和噬血细胞性淋巴组织细胞增生症 (HLH)。

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

内含子分支点至受体变异是先天性免疫缺陷的根本原因

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity

与脱髓鞘疾病和自身免疫相关的 STAT5B 嵌合体功能获得