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本文引用的文献

1
Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model.稳态增殖的CD4 T细胞参与了奥门综合征小鼠模型的发病机制。
J Clin Invest. 2007 May;117(5):1270-81. doi: 10.1172/JCI30513.
2
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.一种低表达的R229Q Rag2小鼠突变体概括了人类奥门综合征。
J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928.
3
Host NKT cells can prevent graft-versus-host disease and permit graft antitumor activity after bone marrow transplantation.宿主自然杀伤T细胞可预防移植物抗宿主病，并在骨髓移植后促进移植物抗肿瘤活性。
J Immunol. 2007 May 15;178(10):6242-51. doi: 10.4049/jimmunol.178.10.6242.
4
The biology of NKT cells.自然杀伤T细胞的生物学特性
Annu Rev Immunol. 2007;25:297-336. doi: 10.1146/annurev.immunol.25.022106.141711.
5
RAG-dependent primary immunodeficiencies.与重组激活基因（RAG）相关的原发性免疫缺陷病
Hum Mutat. 2006 Dec;27(12):1174-84. doi: 10.1002/humu.20408.
6
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation.奥门综合征：在淋巴细胞发育和成熟缺陷的背景下出现的免疫耐受缺失。
Curr Opin Rheumatol. 2006 Jul;18(4):383-8. doi: 10.1097/01.bor.0000231907.50290.6f.
7
Expansion and long-range differentiation of the NKT cell lineage in mice expressing CD1d exclusively on cortical thymocytes.仅在皮质胸腺细胞上表达CD1d的小鼠中NKT细胞谱系的扩增和远距离分化。
J Exp Med. 2005 Jul 18;202(2):239-48. doi: 10.1084/jem.20050413.
8
Genetic evidence supporting selection of the Valpha14i NKT cell lineage from double-positive thymocyte precursors.支持从双阳性胸腺细胞前体中选择Valpha14i自然杀伤T细胞谱系的遗传学证据。
Immunity. 2005 Jun;22(6):705-16. doi: 10.1016/j.immuni.2005.03.011.
9
AIRE deficiency in thymus of 2 patients with Omenn syndrome.2例奥门综合征患者胸腺中的自身免疫调节因子缺乏。
J Clin Invest. 2005 Mar;115(3):728-32. doi: 10.1172/JCI23087.
10
alpha-Galactosylceramide therapy for autoimmune diseases: prospects and obstacles.用于自身免疫性疾病的α-半乳糖神经酰胺疗法：前景与障碍
Nat Rev Immunol. 2005 Jan;5(1):31-42. doi: 10.1038/nri1531.

由于RAG基因功能减弱突变导致联合免疫缺陷的患者中缺乏不变自然杀伤T细胞。

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.

作者信息

Matangkasombut Ponpan, Pichavant Muriel, Saez Doris E, Giliani Silvia, Mazzolari Evelina, Finocchi Andrea, Villa Anna, Sobacchi Cristina, Cortes Patricia, Umetsu Dale T, Notarangelo Luigi D

机构信息

Division of Immunology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

出版信息

Blood. 2008 Jan 1;111(1):271-4. doi: 10.1182/blood-2007-06-096487. Epub 2007 Sep 21.

DOI:10.1182/blood-2007-06-096487
PMID:17890453
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2200812/
Abstract

Hypomorphic mutations of the RAG genes in humans are associated with a spectrum of clinical and immunologic presentations that range from T(-) B(-) severe combined immune deficiency (SCID) to Omenn syndrome. In most cases, residual V(D)J recombination activity allows for development of few T-cell clones, which expand in the periphery and infiltrate target organs, resulting in tissue damage. Invariant natural killer T (iNKT) cells play an important immunoregulatory role and have been associated with protection against autoimmunity. We now report on 5 unrelated cases of combined immune deficiency due to hypomorphic RAG mutations, and demonstrate the absence of iNKT cells in all 5 patients. These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome.

摘要

人类RAG基因的亚效突变与一系列临床和免疫表现相关，范围从T(-)B(-)重症联合免疫缺陷（SCID）到奥门综合征。在大多数情况下，残余的V(D)J重组活性允许少数T细胞克隆发育，这些克隆在外周扩增并浸润靶器官，导致组织损伤。不变自然杀伤T（iNKT）细胞发挥重要的免疫调节作用，并与预防自身免疫相关。我们现在报告5例因RAG亚效突变导致的联合免疫缺陷的非相关病例，并证明所有5例患者均不存在iNKT细胞。这些发现表明，缺乏这一重要的免疫调节细胞群体可能促成了奥门综合征的病理生理学。