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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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Detalles Bibliográficos
Autores principales:	Nemoto, Kazuki, Kawanami, Toshinori, Hoshina, Takayuki, Ishimura, Masataka, Yamasaki, Kei, Okada, Satoshi, Kanegane, Hirokazu, Yatera, Kazuhiro, Kusuhara, Koichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550620/ https://www.ncbi.nlm.nih.gov/pubmed/33133069 http://dx.doi.org/10.3389/fimmu.2020.557521

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