A familial case of B‐cell expansion with NF‐κB and T‐cell anergy caused by a G123D heterozygous missense mutation in the <i>CARD11</i> gene-Reference-Cited by-同舟云学术

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A familial case of B‐cell expansion with NF‐κB and T‐cell anergy caused by a G123D heterozygous missense mutation in the CARD11 gene

Published:2022-09-21 Issue:12 Volume:69 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Takase Yusuke¹^ORCID,Tanioka Shinji¹,Ishimura Masataka²,Yoshiura Koh‐ichiro³,Mori Yasuo⁴,Sakaida Emiko⁵,Funakoshi Yasutomo¹,Moriuchi Hiroyuki¹

Affiliation:

1. Department of Pediatrics Graduate School of Biomedical Sciences Nagasaki University Nagasaki Japan

2. Department of Pediatrics Graduate School of Medical Sciences Kyushu University Fukuoka Japan

3. Department of Human Genetics Graduate School of Biomedical Sciences Nagasaki University Nagasaki Japan

4. Department of Medicine and Biosystemic Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan

5. Department of Endocrinology Hematology and Gerontology Graduate School of Medicine Chiba University Chiba Japan

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.29941

Reference20 articles.

1. The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

2. CARD–BCL-10–MALT1 signalling in protective and pathological immunity

3. Lymphocyte subsets in healthy children from birth through 18 years of age

4. Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis

5. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations

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