Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation

13Citations
Citations of this article
14Readers
Mendeley users who have this article in their library.

Abstract

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.

Cite

CITATION STYLE

APA

Nemoto, K., Kawanami, T., Hoshina, T., Ishimura, M., Yamasaki, K., Okada, S., … Kusuhara, K. (2020). Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation. Frontiers in Immunology, 11. https://doi.org/10.3389/fimmu.2020.557521

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free