article_metadata: Kazuki Nemoto Toshinori Kawanami Takayuki Hoshina Masataka Ishimura Kei Yamasaki Satoshi Okada Hirokazu Kanegane Kazuhiro Yatera Koichi Kusuhara
article_metadata: 10.3389/fimmu.2020.557521
article_metadata: Front Immunol
article_metadata: 2020 Sep 29;11:557521.
article_metadata: stat1 gain-of-function mutation bone marrow (bm) disseminated cryptococcosis hypogammaglobulinemia impaired b-cell differentiation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33133069/
article_metadata: B-Lymphocytes / cytology B-Lymphocytes / metabolism Cell Differentiation / genetics Cell Differentiation / immunology Gain of Function Mutation STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism
article_metadata: B-Lymphocytes / cytology B-Lymphocytes / metabolism Cell Differentiation / genetics Cell Differentiation / immunology Gain of Function Mutation STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism Case Reports Adult Agammaglobulinemia / diagnosis Agammaglobulinemia / etiology Agammaglobulinemia / metabolism B-Lymphocytes / immunology Biomarkers Bone Marrow / metabolism Bone Marrow / pathology Cytokines / metabolism Humans Immunophenotyping Male T-Lymphocyte Subsets / immunology T-Lymphocyte Subsets / metabolism Tomography, X-Ray Computed Biomarkers Cytokines STAT1 Transcription Factor STAT1 protein, human
article_metadata: PMC7550620
article_metadata: 33133069
article_metadata: Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
article_metadata: 2020