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婴儿期短暂性低丙种球蛋白血症可能与转换记忆B细胞减少和16号染色体（16）（p11.2p12）缺失有关。

Transient hypogammaglobulinemia of infancy may be associated with reduced switched memory B cells and del (16) (p11.2p12).

作者信息

Ito Tsuyoshi, Iwamoto Shotaro, Hirayama Masahiro, Yamada Yasuharu, Azuma Eiichi

机构信息

Department of Pediatrics Toyohashi Municipal Hospital Toyohashi Japan.

Department of Pediatrics Mie University Graduate School of Medicine Tsu Japan.

出版信息

Clin Case Rep. 2021 Jun 22;9(6):e3837. doi: 10.1002/ccr3.3837. eCollection 2021 Jun.

DOI:10.1002/ccr3.3837
PMID:34188919
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8218327/
Abstract

Transient hypogammaglobulinemia of infancy may be associated with chromosome del (16)(p11.2) that has reportedly been associated with other forms of primary immunodeficiency (, 2009, 131, 24; , 2015;135, 1569).

摘要

婴儿期短暂性低丙种球蛋白血症可能与染色体del(16)(p11.2)相关，据报道该染色体与其他形式的原发性免疫缺陷有关(, 2009, 131, 24;,, 2015;135, 1569)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92ed/8218327/b1592ba39fbd/CCR3-9-e3837-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92ed/8218327/b1592ba39fbd/CCR3-9-e3837-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92ed/8218327/b1592ba39fbd/CCR3-9-e3837-g001.jpg

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1
Transient hypogammaglobulinemia of infancy may be associated with reduced switched memory B cells and del (16) (p11.2p12).婴儿期短暂性低丙种球蛋白血症可能与转换记忆B细胞减少和16号染色体（16）（p11.2p12）缺失有关。
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本文引用的文献

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Current genetic landscape in common variable immune deficiency.常见可变免疫缺陷的当前遗传图谱。
Blood. 2020 Feb 27;135(9):656-667. doi: 10.1182/blood.2019000929.
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Transient hypogammaglobulinaemia of infancy: many patients recover in adolescence and adulthood.婴儿期一过性低丙种球蛋白血症：许多患者在青春期和成年期康复。
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Rare variants at 16p11.2 are associated with common variable immunodeficiency.16号染色体短臂11.2区的罕见变异与常见变异型免疫缺陷相关。
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A small CD11b(+) human B1 cell subpopulation stimulates T cells and is expanded in lupus.一小部分 CD11b(+) 人类 B1 细胞亚群可刺激 T 细胞，并在狼疮中扩增。
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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.与冠蛋白-1A突变及16号染色体p11.2缺失相关的重症联合免疫缺陷（SCID）和注意力缺陷多动障碍（ADHD）
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Association between microdeletion and microduplication at 16p11.2 and autism.16号染色体短臂11.2区域的微小缺失和微小重复与自闭症之间的关联。
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9
Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease.常见变异型免疫缺陷患者亚组中转换记忆B细胞（CD27(+)IgM(-)IgD(-)）严重缺乏：一种对异质性疾病进行分类的新方法。
Blood. 2002 Mar 1;99(5):1544-51. doi: 10.1182/blood.v99.5.1544.
10
Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death.小鼠中Fus缺乏会导致B淋巴细胞发育和激活缺陷、高水平的染色体不稳定性以及围产期死亡。
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