IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom.

IF 0.7 Q4 IMMUNOLOGY
Case Reports in Immunology Pub Date : 2020-09-09 eCollection Date: 2020-01-01 DOI:10.1155/2020/9860863
Ali Al Maawali, Beata Derfalvi, Johan Van Limbergen, Andrew Issekutz, Thomas Issekutz, Hasan Ghandourah, Mohsin Rashid
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引用次数: 4

Abstract

IPEX (immune dysregulation-polyendocrinopathy-enteropathy-X-linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the FOXP3 gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune-suppressive actions which can in turn cause autoimmune and inflammatory disorders. We describe an infant with IPEX syndrome with unremarkable maternal family history whose only presentations were severe diarrhea and malnutrition. The patient had a normal percentage of Treg cells and FOXP3 protein expression, but further testing revealed a hemizygous missense mutation in the FOXP3 gene. IPEX syndrome should be considered in young children even if severe intractable diarrhea is the only symptom with no other autoimmune manifestations. Sequencing of the FOXP3 gene should always be considered for accurate diagnosis to look for mutations even in the face of normal FOXP3 protein expression in the Treg cell.

Abstract Image

以难治性腹泻为单一症状的婴儿中Treg细胞FOXP3蛋白表达正常的IPEX综合征
IPEX(免疫失调-多内分泌病-肠病- x连锁)综合征是一种罕见的、潜在致命的多系统疾病,由FOXP3基因突变引起。这可能导致调节性T细胞(Treg)的数量或功能缺陷,从而影响其免疫抑制作用,进而导致自身免疫性和炎症性疾病。我们描述了一个婴儿IPEX综合征与不显着的母亲家族史,其唯一的表现是严重的腹泻和营养不良。患者Treg细胞和FOXP3蛋白表达百分比正常,但进一步检测显示FOXP3基因出现半合子错义突变。即使严重难治性腹泻是唯一无其他自身免疫表现的症状,也应考虑在幼儿中出现IPEX综合征。即使在Treg细胞中FOXP3蛋白表达正常的情况下,也应始终考虑FOXP3基因的测序以准确诊断以寻找突变。
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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
14
审稿时长
15 weeks
期刊介绍: Case Reports in Immunology is a peer-reviewed, Open Access journal that publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.
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