Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation

Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation

Hypogammaglobulinemia is a rare complication of STAT1 gain-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 the STAT1 GOF mutation (c.820C>T, p.R274W...

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Bibliographic Details
Main Authors: Kazuki Nemoto, Toshinori Kawanami, Takayuki Hoshina, Masataka Ishimura, Kei Yamasaki, Satoshi Okada, Hirokazu Kanegane, Kazuhiro Yatera, Koichi Kusuhara
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Immunology
Subjects:
STAT1 gain-of-function mutation
disseminated cryptococcosis
hypogammaglobulinemia
impaired B-cell differentiation
bone marrow (BM)
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.557521/full

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https://www.frontiersin.org/article/10.3389/fimmu.2020.557521/full

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