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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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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author Nemoto, Kazuki
Kawanami, Toshinori
Hoshina, Takayuki
Ishimura, Masataka
Yamasaki, Kei
Okada, Satoshi
Kanegane, Hirokazu
Yatera, Kazuhiro
Kusuhara, Koichi
author_facet Nemoto, Kazuki
Kawanami, Toshinori
Hoshina, Takayuki
Ishimura, Masataka
Yamasaki, Kei
Okada, Satoshi
Kanegane, Hirokazu
Yatera, Kazuhiro
Kusuhara, Koichi
author_sort Nemoto, Kazuki
collection PubMed
description 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.
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spelling pubmed-75506202020-10-29 Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation Nemoto, Kazuki Kawanami, Toshinori Hoshina, Takayuki Ishimura, Masataka Yamasaki, Kei Okada, Satoshi Kanegane, Hirokazu Yatera, Kazuhiro Kusuhara, Koichi Front Immunol Immunology 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. Frontiers Media S.A. 2020-09-29 /pmc/articles/PMC7550620/ /pubmed/33133069 http://dx.doi.org/10.3389/fimmu.2020.557521 Text en Copyright © 2020 Nemoto, Kawanami, Hoshina, Ishimura, Yamasaki, Okada, Kanegane, Yatera and Kusuhara http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Nemoto, Kazuki
Kawanami, Toshinori
Hoshina, Takayuki
Ishimura, Masataka
Yamasaki, Kei
Okada, Satoshi
Kanegane, Hirokazu
Yatera, Kazuhiro
Kusuhara, Koichi
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
title Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
title_full Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
title_fullStr Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
title_full_unstemmed Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
title_short Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
title_sort impaired b-cell differentiation in a patient with stat1 gain-of-function mutation
topic Immunology
url 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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