Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies

被引：13

作者：

Amirifar, Parisa ^{[1
,2
]}

Yazdani, Reza ^{[1
,3
]}

Azizi, Gholamreza ^{[4
]}

Ranjouri, Mohammad Reza ^{[1
]}

Durandy, Anne ^{[5
]}

Plebani, Alessandro ^{[6
]}

Lougaris, Vassilios ^{[6
]}

Hammarstrom, Lennart ^{[7
,8
]}

Aghamohammadi, Asghar ^{[1
]}

Abolhassani, Hassan ^{[1
,7
,8
]}

机构：

[1] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran

[2] Univ Tehran Med Sci, Sch Med, Dept Med Genet, Tehran, Iran

[3] Univ Sci Educ & Res Network USERN, Primary Immunodeficiency Dis Network PIDNet, Tehran, Iran

[4] Alborz Univ Med Sci, Non Communicable Dis Res Ctr, Karaj, Iran

[5] Paris Cite Univ, Inst Imagine, INSERM, Human Lymphohematopoiesis Lab,U1163, Paris, France

[6] Univ Brescia, Dept Clin & Expt Sci, Pediat Clin & Nocivelli Inst Mol Med, ASST Spedali Civili Brescia, Brescia, Italy

[7] Karolinska Inst, Div Clin Immunol, Dept Biosci & Nutr, NEO, Blickagangen 16, SE-14157 Stockholm, Sweden

[8] Karolinska Inst, Karolinska Univ Hosp Huddinge, Div Clin Immunol, Dept Lab Med, Stockholm, Sweden

来源：

PEDIATRIC ALLERGY AND IMMUNOLOGY | 2021年 / 32卷 / 08期

关键词：

B-cell development; humoral immunity; immunoglobulin class switch recombination; inborn errors of immunity; predominantly antibody deficiencies; primary immunodeficiency; CLASS-SWITCH RECOMBINATION; CYTIDINE DEAMINASE AID; IMMUNITY; 2019; UPDATE; HUMAN INBORN-ERRORS; HYPER-IGM SYNDROME; COMBINED IMMUNODEFICIENCY; CAUSES AGAMMAGLOBULINEMIA; SOMATIC HYPERMUTATION; REGION RECOMBINATION; GERMINAL-CENTERS;

D O I：

10.1111/pai.13589

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Predominantly antibody deficiencies (PADs) encompass a heterogeneous group of disorders characterized by low immunoglobulin serum levels in the presence or absence of peripheral B cells. Clinical presentation of affected patients may include recurrent respiratory and gastrointestinal infections, invasive infections, autoimmune manifestations, allergic reactions, lymphoproliferation, and increased susceptibility to malignant transformation. In the last decades, several genetic alterations affecting B-cell development/maturation have been identified as causative of several forms of PADs, adding important information on the genetic background of PADs, which in turn should lead to a better understanding of these disorders and precise clinical management of affected patients. This review aimed to present a comprehensive overview of the known and potentially involved molecules in the etiology of PADs to elucidate the pathogenesis of these disorders and eventually offer a better prognosis for affected patients.

引用

页码：1601 / 1615

页数：15

共 125 条

[71] Loss of precursor B cell expansion but not allelic exclusion in VpreB1/VpreB2 double-deficient mice [J].