Impaired B-Cell Differentiation in a Patient WithSTAT1Gain-of-Function Mutation

被引：11

作者：

Nemoto, Kazuki ^{[1
]}

Kawanami, Toshinori ^{[1
]}

Hoshina, Takayuki ^{[2
]}

Ishimura, Masataka ^{[3
]}

Yamasaki, Kei ^{[1
]}

Okada, Satoshi ^{[4
]}

Kanegane, Hirokazu ^{[5
]}

Yatera, Kazuhiro ^{[1
]}

Kusuhara, Koichi ^{[2
]}

机构：

[1] Univ Occupat & Environm Hlth, Sch Med, Dept Resp Med, Kitakyushu, Fukuoka, Japan

[2] Univ Occupat & Environm Hlth, Sch Med, Dept Pediat, Kitakyushu, Fukuoka, Japan

[3] Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka, Japan

[4] Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

[5] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan

来源：

FRONTIERS IN IMMUNOLOGY | 2020年 / 11卷

基金：

日本学术振兴会;

关键词：

STAT1gain-of-function mutation; disseminated cryptococcosis; hypogammaglobulinemia; impaired B-cell differentiation; bone marrow (BM); OF-FUNCTION MUTATIONS; STAT1; MUTATIONS; IMMUNODEFICIENCY; DEFECT;

D O I：

10.3389/fimmu.2020.557521

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Hypogammaglobulinemia is a rare complication ofSTAT1gain-of-function (GOF) mutations. We report an adult patient diagnosed with hypogammaglobulinemia caused by B-cell depletion during the treatment of disseminated cryptococcosis. The patient carried theSTAT1GOF mutation (c.820C>T, p.R274W). The flow cytometric analysis of his bone marrow revealed that B-cell differentiation was blocked in the stages between pre-B1b and pre-B2 cells. On the other hand, his brother who carried the same mutation displayed normal B-cell counts, thereby indicating that the unrecognized variants in same or other gene might be associated with abnormal B-cell differentiation in the patients. In conclusion, impaired B-cell differentiation in the bone marrow can cause hypogammaglobulinemia in patients withSTAT1GOF mutations.

引用

页数：5

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