Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation.
Front Immunol
; 11: 557521, 2020.
Article
em En
| MEDLINE
| ID: mdl-33133069
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). The flow cytometric analysis of his bone marrow revealed that B-cell differentiation was blocked in the stages between pre-B1b and pre-B2 cells. On the other hand, his brother who carried the same mutation displayed normal B-cell counts, thereby indicating that the unrecognized variants in same or other gene might be associated with abnormal B-cell differentiation in the patients. In conclusion, impaired B-cell differentiation in the bone marrow can cause hypogammaglobulinemia in patients with STAT1 GOF mutations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfócitos B
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Diferenciação Celular
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Fator de Transcrição STAT1
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Mutação com Ganho de Função
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Front Immunol
Ano de publicação:
2020
Tipo de documento:
Article