Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens

被引:0
作者
Fasshauer, Maria [1 ]
Dinges, Sarah [2 ,3 ]
Staudacher, Olga [2 ,3 ]
Voeller, Mirjam [2 ,3 ]
Stittrich, Anna [4 ]
von Bernuth, Horst [2 ,3 ,5 ,6 ,7 ,8 ]
Wahn, Volker [2 ,3 ]
Krueger, Renate [2 ,3 ]
机构
[1] Hosp St Georg, Jeffrey Modell Diagnost & Res Ctr Primary Immunode, Immuno Deficiency Ctr Leipzig, Leipzig, Germany
[2] Charite Univ Med Berlin, Dept Pediat Resp Med Immunol & Crit Care Med, Berlin, Germany
[3] Humboldt Univ, Freie Univ Berlin, Berlin Inst Hlth BIH, Berlin, Germany
[4] Lab Berlin Charite Vivantes GmbH, Dept Human Genet, Berlin, Germany
[5] Lab Berlin Charite Vivantes GmbH, Dept Immunol, Berlin, Germany
[6] Charite Univ Med Berlin, Berlin Inst Hlth BIH, Berlin, Germany
[7] Charite Univ Med Berlin, Berlin, Germany
[8] Humboldt Univ, Freie Univ Berlin, Berlin Inst Hlth BIH, Berlin Brandenburg Ctr Regenerat Therapies BCRT, Berlin, Germany
来源
FRONTIERS IN PEDIATRICS | 2024年 / 12卷
关键词
IEI; primary immunodeficiency; polysaccharide; vaccines; pneumococcal infections; vaccination; WISKOTT-ALDRICH SYNDROME; ESSENTIAL MODULATOR MUTATION; ATAXIA-TELANGIECTASIA GENE; MECP2 DUPLICATION SYNDROME; NIJMEGEN BREAKAGE SYNDROME; 22Q11.2 DELETION SYNDROME; ANTIBODY DEFICIENCY; CLINICAL-FEATURES; HYPERIMMUNOGLOBULINEMIA-E; IMMUNOLOGICAL PHENOTYPE;
D O I
10.3389/fped.2024.1386959
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
In patients with severe and recurrent infections, minimal diagnostic workup to test for Inborn Errors of Immunity (IEI) includes a full blood count, IgG, IgA and IgM. Vaccine antibodies against tetanus toxoid are also frequently measured, whereas testing for anti-polysaccharide IgG antibodies and IgG subclasses is not routinely performed by primary care physicians. This basic approach may cause a significant delay in diagnosing monogenic IEI that can present with an impaired IgG response to polysaccharide antigens with or without IgG subclass deficiency at an early stage. Our article reviews genetically defined IEI, that may initially present with an impaired IgG response to polysaccharide antigens, but normal or only slightly decreased IgG levels and normal responses to protein or conjugate vaccine antigens. We summarize clinical, genetic, and immunological findings characteristic for these IEI. This review may help clinicians to identify patients that require extended immunologic and genetic evaluations despite unremarkable basic immunologic findings. We recommend the inclusion of anti-polysaccharide IgG antibodies as part of the initial routine work-up for possible IEI.
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页数:15
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