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

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...

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Main Authors: Kazuki Nemoto, Toshinori Kawanami, Takayuki Hoshina, Masataka Ishimura, Kei Yamasaki, Satoshi Okada, Hirokazu Kanegane, Kazuhiro Yatera, Koichi Kusuhara
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Immunology
Subjects:
STAT1 gain-of-function mutation
disseminated cryptococcosis
hypogammaglobulinemia
impaired B-cell differentiation
bone marrow (BM)
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.557521/full
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spelling doaj-29231812c404447ea8078f99b08b839a2020-11-25T02:49:32ZengFrontiers Media S.A.Frontiers in Immunology1664-32242020-09-011110.3389/fimmu.2020.557521557521Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function MutationKazuki Nemoto0Toshinori Kawanami1Takayuki Hoshina2Masataka Ishimura3Kei Yamasaki4Satoshi Okada5Hirokazu Kanegane6Kazuhiro Yatera7Koichi Kusuhara8Department of Respiratory Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, JapanDepartment of Respiratory Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, JapanDepartment of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, JapanDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, JapanDepartment of Respiratory Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, JapanDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, JapanDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, JapanDepartment of Respiratory Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, JapanDepartment of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, JapanHypogammaglobulinemia 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.https://www.frontiersin.org/article/10.3389/fimmu.2020.557521/fullSTAT1 gain-of-function mutationdisseminated cryptococcosishypogammaglobulinemiaimpaired B-cell differentiationbone marrow (BM)
collection DOAJ
language English
format Article
sources DOAJ
author Kazuki Nemoto
Toshinori Kawanami
Takayuki Hoshina
Masataka Ishimura
Kei Yamasaki
Satoshi Okada
Hirokazu Kanegane
Kazuhiro Yatera
Koichi Kusuhara
spellingShingle Kazuki Nemoto
Toshinori Kawanami
Takayuki Hoshina
Masataka Ishimura
Kei Yamasaki
Satoshi Okada
Hirokazu Kanegane
Kazuhiro Yatera
Koichi Kusuhara
Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
Frontiers in Immunology
STAT1 gain-of-function mutation
disseminated cryptococcosis
hypogammaglobulinemia
impaired B-cell differentiation
bone marrow (BM)
author_facet Kazuki Nemoto
Toshinori Kawanami
Takayuki Hoshina
Masataka Ishimura
Kei Yamasaki
Satoshi Okada
Hirokazu Kanegane
Kazuhiro Yatera
Koichi Kusuhara
author_sort Kazuki Nemoto
title 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_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_sort impaired b-cell differentiation in a patient with stat1 gain-of-function mutation
publisher Frontiers Media S.A.
series Frontiers in Immunology
issn 1664-3224
publishDate 2020-09-01
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.
topic STAT1 gain-of-function mutation
disseminated cryptococcosis
hypogammaglobulinemia
impaired B-cell differentiation
bone marrow (BM)
url https://www.frontiersin.org/article/10.3389/fimmu.2020.557521/full
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