New mutations and new phenotypes: a case of Major Histocompatibility Complex Class II Deficiency.

IF 3.3 4区 医学 Q3 IMMUNOLOGY Immunologic Research Pub Date : 2024-12-01 Epub Date: 2024-08-13 DOI:10.1007/s12026-024-09526-0
Xinting Li, Bin Lu, Xiaoli Luo
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Abstract

Major Histocompatibility Complex Class II Deficiency is a rare primary immunodeficiency disease with autosomal recessive inheritance. It is characterized by the absence of Major Histocompatibility Complex Class II molecules on the surface of immune cells. In this article, we will present a four-month-old baby girl who presented with recurrent fever and progressive exacerbation of respiratory symptoms since a month ago. Relevant examinations suggested pancytopenia, a decrease in CD4 and CD3 ratio, and CD4/CD8 inversion, hypogammaglobulinemia, and diagnosis of hemophagocytic syndrome during treatment which all led to the consideration of the presence of immunodeficiency diseases, and the diagnosis of Major Histocompatibility Complex Class II Deficiency was made by peripheral blood whole-exon sequencing (WES). This case is remarkable in that it reveals features of hemophagocytic syndrome in a Major Histocompatibility Complex Class II Deficiency infant, most probably caused by cytomegalovirus, which rarely reported before, and the Major Histocompatibility Complex Class II Deficiency caused by a novel mutation site in the RFXANK gene which never reported, and it also describes the diagnostic and therapeutic course in detail. In addition, we have summarized the information related to Major Histocompatibility Complex Class II Deficiency triggered by mutations in the RFXANK gene to assist clinicians in early recognition and diagnosis.

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新突变和新表型:一个主要组织相容性复合体 II 类缺陷病例。
主要组织相容性复合体 II 缺乏症是一种罕见的原发性免疫缺陷病,常染色体隐性遗传。其特征是免疫细胞表面缺乏主要组织相容性复合体 II 类分子。本文将介绍一名四个月大的女婴,她自一个月前开始出现反复发热和呼吸道症状进行性加重。相关检查提示全血细胞减少、CD4 和 CD3 比值下降、CD4/CD8 倒置、低丙种球蛋白血症,并在治疗过程中诊断为嗜血细胞综合征,这一切都让我们考虑到存在免疫缺陷疾病,并通过外周血全外显子测序(WES)确诊为主要组织相容性复合体 II 类缺陷。本病例的特别之处在于,它揭示了嗜血细胞综合征在主要组织相容性复合体II类缺陷婴儿中的特征,很可能是由巨细胞病毒引起的,这在以前的报道中很少见,而且主要组织相容性复合体II类缺陷是由RFXANK基因中的一个新的突变位点引起的,这在以前的报道中从未有过,本病例还详细描述了诊断和治疗过程。此外,我们还总结了由 RFXANK 基因突变引发的主要组织相容性复合体 II 类缺陷症的相关信息,以帮助临床医生进行早期识别和诊断。
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来源期刊
Immunologic Research
Immunologic Research 医学-免疫学
CiteScore
6.90
自引率
0.00%
发文量
83
审稿时长
6-12 weeks
期刊介绍: IMMUNOLOGIC RESEARCH represents a unique medium for the presentation, interpretation, and clarification of complex scientific data. Information is presented in the form of interpretive synthesis reviews, original research articles, symposia, editorials, and theoretical essays. The scope of coverage extends to cellular immunology, immunogenetics, molecular and structural immunology, immunoregulation and autoimmunity, immunopathology, tumor immunology, host defense and microbial immunity, including viral immunology, immunohematology, mucosal immunity, complement, transplantation immunology, clinical immunology, neuroimmunology, immunoendocrinology, immunotoxicology, translational immunology, and history of immunology.
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