Kazuki Nemoto Toshinori Kawanami Takayuki Hoshina Masataka Ishimura Kei Yamasaki Satoshi Okada Hirokazu Kanegane Kazuhiro Yatera Koichi Kusuhara
10.3389/fimmu.2020.557521
Front Immunol
2020 Sep 29;11:557521.
stat1 gain-of-function mutation bone marrow (bm) disseminated cryptococcosis hypogammaglobulinemia impaired b-cell differentiation
CC BY
https://pubmed.ncbi.nlm.nih.gov/33133069/
B-Lymphocytes / cytology B-Lymphocytes / metabolism Cell Differentiation / genetics Cell Differentiation / immunology Gain of Function Mutation STAT1 Transcription Factor / genetics STAT1 Transcription Factor / metabolism
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
PMC7550620
33133069
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
2020