Clinical and Molecular Characteristics of Immunodysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome in China
Immunodysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a rare X‐linked recessive disorder causing life‐threatening systemic autoimmunity because of immunodysregulation. The FOXP3 gene had been reported as the responsible gene, which was critical for the functions of CD4+CD...
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Published in | Scandinavian journal of immunology Vol. 74; no. 3; pp. 304 - 309 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
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Oxford, UK
Blackwell Publishing Ltd
01.09.2011
Wiley Subscription Services, Inc |
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Abstract | Immunodysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a rare X‐linked recessive disorder causing life‐threatening systemic autoimmunity because of immunodysregulation. The FOXP3 gene had been reported as the responsible gene, which was critical for the functions of CD4+CD25+FOXP3+ regulatory T cells (Tregs) and maintenance of peripheral immunologic tolerance. So far, no IPEX patients with definite mutations in the FOXP3 gene had been reported in China. In this study, the genotypes and phenotypes were investigated in three IPEX infants from three unrelated Chinese families. Patient 1 (P1) presented with a classical clinical phenotype, whose mutation was a novel frameshift insertion in exon 11, led to the complete abrogation of Tregs. Patient 2 (P2) showed incomplete IPEX phenotype. He carried a missense mutation in exon 11 with slightly increased frequency of Tregs, whereas Patient 3 (P3) presented with a relatively mild classical phenotype and had a previously reported missense mutation in exon 10 with decreased frequency of Tregs. We firstly report three Chinese IPEX patients with definite mutations of FOXP3 gene. Our study indicated the potential correlation between the genotype and the phenotype of IPEX, which was different from the previous reports. |
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AbstractList | Abstract
Immunodysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a rare X‐linked recessive disorder causing life‐threatening systemic autoimmunity because of immunodysregulation. The
FOXP3
gene had been reported as the responsible gene, which was critical for the functions of CD4
+
CD25
+
FOXP3
+
regulatory T cells (Tregs) and maintenance of peripheral immunologic tolerance. So far, no IPEX patients with definite mutations in the
FOXP3
gene had been reported in China. In this study, the genotypes and phenotypes were investigated in three IPEX infants from three unrelated Chinese families. Patient 1 (P1) presented with a classical clinical phenotype, whose mutation was a novel frameshift insertion in exon 11, led to the complete abrogation of Tregs. Patient 2 (P2) showed incomplete IPEX phenotype. He carried a missense mutation in exon 11 with slightly increased frequency of Tregs, whereas Patient 3 (P3) presented with a relatively mild classical phenotype and had a previously reported missense mutation in exon 10 with decreased frequency of Tregs. We firstly report three Chinese IPEX patients with definite mutations of
FOXP3
gene. Our study indicated the potential correlation between the genotype and the phenotype of IPEX, which was different from the previous reports. Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked recessive disorder causing life-threatening systemic autoimmunity because of immunodysregulation. The FOXP3 gene had been reported as the responsible gene, which was critical for the functions of CD4(+) CD25(+) FOXP3(+) regulatory T cells (Tregs) and maintenance of peripheral immunologic tolerance. So far, no IPEX patients with definite mutations in the FOXP3 gene had been reported in China. In this study, the genotypes and phenotypes were investigated in three IPEX infants from three unrelated Chinese families. Patient 1 (P1) presented with a classical clinical phenotype, whose mutation was a novel frameshift insertion in exon 11, led to the complete abrogation of Tregs. Patient 2 (P2) showed incomplete IPEX phenotype. He carried a missense mutation in exon 11 with slightly increased frequency of Tregs, whereas Patient 3 (P3) presented with a relatively mild classical phenotype and had a previously reported missense mutation in exon 10 with decreased frequency of Tregs. We firstly report three Chinese IPEX patients with definite mutations of FOXP3 gene. Our study indicated the potential correlation between the genotype and the phenotype of IPEX, which was different from the previous reports. |
Author | An, Y.‐F. Zhang, Z.‐Y. Zhao, X.‐D. Xu, F. Wang, M. |
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Cites_doi | 10.1172/JCI19441 10.1172/JCI11679 10.1007/s00281-006-0041-4 10.1097/00008480-200112000-00007 10.1038/83713 10.1038/nature05673 10.1006/dbio.2002.0780 10.1111/j.0105-2896.2005.00231.x 10.1016/j.jaci.2008.09.027 10.1016/j.jaci.2007.08.044 10.1136/jmg.38.12.874 10.1038/nature05543 10.1172/JCI25112 10.1172/JCI28880 10.1016/j.jaci.2007.08.053 10.1097/MOG.0b013e32830c9022 10.1016/S0022-3476(82)80573-8 10.1038/nature05479 10.1038/83707 10.1007/s00467-009-1119-8 10.1136/jmg.39.8.537 |
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Snippet | Immunodysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a rare X‐linked recessive disorder causing life‐threatening systemic... Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked recessive disorder causing life-threatening systemic... Abstract Immunodysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a rare X‐linked recessive disorder causing life‐threatening systemic... |
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SubjectTerms | Autoimmunity Autoimmunity - genetics CD25 antigen CD4 antigen China Exons Flow Cytometry Forkhead Transcription Factors - genetics Foxp3 protein Frameshift Mutation Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - immunology Genotype Genotypes Hereditary diseases Humans Immunological tolerance Immunoregulation Infant Infants Intestinal Diseases - genetics Lymphocytes Lymphocytes T Male Missense mutation Molecular chains Mutation Mutation, Missense Phenotype Phenotypes Polyendocrinopathies, Autoimmune - genetics Polyendocrinopathies, Autoimmune - immunology Polymerase Chain Reaction T-Lymphocytes, Regulatory - immunology X chromosome X-Linked Combined Immunodeficiency Diseases - genetics X-Linked Combined Immunodeficiency Diseases - immunology |
Title | Clinical and Molecular Characteristics of Immunodysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome in China |
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