Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations

被引：0

作者：

Giannotti, Camilla Cirone Papa ^{[1
]}

do Nascimento, Renan Rodrigues Neves Ribeiro ^{[2
]}

Terreri, Maria Teresa ^{[1
]}

Andrade, Luis Eduardo Coelho ^{[2
,3
]}

Perazzio, Sandro Felix ^{[2
,3
]}

机构：

[1] Univ Fed Sao Paulo UNIFESP, Div Pediat Rheumatol, Sao Paulo, Brazil

[2] Univ Fed Sao Paulo UNIFESP, Div Rheumatol, Sao Paulo, Brazil

[3] Fleury Grp, Fleury Med & Hlth, Sao Paulo, SP, Brazil

来源：

AUTOIMMUNITY REVIEWS | 2025年 / 24卷 / 03期

关键词：

Chromosome 18p deletion; Chromosome aberration; Autoimmunity; Autoinflammatory diseases; Inborn errors of immunity; Genomic microarray testing; MYELODYSPLASTIC SYNDROME; BEHCETS-DISEASE; IGA DEFICIENCY; VEXAS SYNDROME; DOWN-SYNDROME; PATIENT; IMMUNODEFICIENCY; INVOLVEMENT; TRISOMY-8; FEMALE;

D O I：

10.1016/j.autrev.2024.103740

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Recent advances in genomic methodologies have significantly enhanced our understanding of immune-mediated rheumatic diseases. Specific structural variants (SVs), such as substantial DNA deletions or insertions, including chromosomal aberrations, have been implicated in diseases of immune dysregulation. Regrettably, SVs are frequently overlooked in next-generation sequencing (NGS) targeted-gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS). In view of a case of chromosome 18p deletion syndrome, characterized by hypogammaglobulinemia and an autoinflammatory phenotype, we provide a comprehensive review on chromosome aberrations associated with multiple immune-mediated conditions, highlighting the clinical aspects of the various chromosome aberrations associated with immune-mediated diseases. Further investigations and development of functional tests should contribute to elucidate the mechanistic connection between chromosome aberrations and Primary Immune Regulatory Disorders (PIRD), bringing novel perspectives in the field of autoinflammatory and autoimmune diseases.

引用

页数：9

共 71 条

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