TY - JOUR
T1 - Impaired B-Cell Differentiation in a Patient With STAT1 Gain-of-Function Mutation
AU - Nemoto, Kazuki
AU - Kawanami, Toshinori
AU - Hoshina, Takayuki
AU - Ishimura, Masataka
AU - Yamasaki, Kei
AU - Okada, Satoshi
AU - Kanegane, Hirokazu
AU - Yatera, Kazuhiro
AU - Kusuhara, Koichi
N1 - Funding Information:
We thank Naomi Terada (Tokyo Medical and Dental University) for performing the flow cytometric analysis of the bone marrow sample, and Tamami Tanaka and Motoshi Sonoda (Kyushu University) for performing the flow cytometric analysis of peripheral blood samples. We would like to thank Editage (www.editage.com) for English language editing.
Publisher Copyright:
© Copyright © 2020 Nemoto, Kawanami, Hoshina, Ishimura, Yamasaki, Okada, Kanegane, Yatera and Kusuhara.
PY - 2020/9/29
Y1 - 2020/9/29
N2 - 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.
AB - 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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U2 - 10.3389/fimmu.2020.557521
DO - 10.3389/fimmu.2020.557521
M3 - Article
C2 - 33133069
AN - SCOPUS:85092487301
SN - 1664-3224
VL - 11
JO - Frontiers in Immunology
JF - Frontiers in Immunology
M1 - 557521
ER -