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). T...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Nemoto, Kazuki, Kawanami, Toshinori, Hoshina, Takayuki, Ishimura, Masataka, Yamasaki, Kei, Okada, Satoshi, Kanegane, Hirokazu, Yatera, Kazuhiro, Kusuhara, Koichi
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7550620/
https://ncbi.nlm.nih.gov/pubmed/33133069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2020.557521
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