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与主要组织相容性复合体II类缺陷相关的低氧血症性细支气管炎

Hypoxemic Bronchiolitis Related to Major Histocompatibility Class II Deficiency.

作者信息

Hammami S, Besbès H, Hadded S, Lajmi K, Ghédira L, Meriem Ch B, Guediche M N

机构信息

Paediatric Department, Fattouma Bourguiba Hospital and University of Monastir, Faculty of Medicine, 5000 Monastir, Tunisia.

出版信息

Case Rep Med. 2013;2013:315073. doi: 10.1155/2013/315073. Epub 2013 Aug 24.

DOI:10.1155/2013/315073
PMID:24062773
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3766589/
Abstract

Major histocompatibility complex class II expression deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is the highest in Mediterranean areas, especially North Africa. Early diagnosis is essential due to high mortality in the first 2 years of life. Prognosis is very poor when bone marrow transplantation cannot be performed. We report the case of an infant with major histocompatibility complex class II expression deficiency revealed by hypoxemic bronchiolitis due to Pneumocystis jiroveci.

摘要

主要组织相容性复合体II类表达缺陷是一种常染色体隐性原发性联合免疫缺陷病。这种缺陷在地中海地区，尤其是北非最为常见。由于在生命的头两年死亡率很高，早期诊断至关重要。若无法进行骨髓移植，预后非常差。我们报告了一例因耶氏肺孢子菌引起的低氧血症性细支气管炎而发现主要组织相容性复合体II类表达缺陷的婴儿病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700d/3766589/8a67b9a87398/CRIM.MEDICINE2013-315073.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700d/3766589/4e53cc959bc8/CRIM.MEDICINE2013-315073.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700d/3766589/8a67b9a87398/CRIM.MEDICINE2013-315073.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700d/3766589/4e53cc959bc8/CRIM.MEDICINE2013-315073.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700d/3766589/8a67b9a87398/CRIM.MEDICINE2013-315073.002.jpg

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本文引用的文献

1
Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.临床、免疫和遗传发现的一个大型突尼斯主要组织相容性复合体 II 类缺陷患者系列。
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Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency.MHC II 类缺陷的造血干细胞移植和其他治疗策略。
Immunol Allergy Clin North Am. 2010 May;30(2):173-8. doi: 10.1016/j.iac.2010.01.001.
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The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.
RFXANK 基因中的 752delG26 突变与主要组织相容性复合体 II 缺陷相关：摩洛哥人群中存在一个 founder 效应的证据。
Eur J Pediatr. 2010 Sep;169(9):1069-74. doi: 10.1007/s00431-010-1179-6. Epub 2010 Apr 23.
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MHC class II deficiency cured by unrelated mismatched umbilical cord blood transplantation: case report and review of 68 cases in the literature.非亲缘不匹配脐血移植治愈MHC II类缺陷：病例报告及文献中68例病例回顾
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Allogeneic stem cell transplantation using myeloablative and reduced-intensity conditioning in patients with major histocompatibility complex class II deficiency.同种异体干细胞移植使用清髓性和强度降低的预处理方案治疗主要组织相容性复合体 II 类缺陷患者。
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8
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