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J Allergy Clin Immunol. 2007 Feb;119(2):482-7. Epub 2006 Dec 27.

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.

Author information

1
Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA.

Abstract

BACKGROUND:

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) results in systemic autoimmunity from birth and can be caused by mutations in the transcription factor forkhead box P3 (FOXP3).

OBJECTIVE:

To determine if Foxp3 is required for the generation of IL-10-expressing T regulatory cells.

METHODS:

CD4 lymphocytes were isolated from patients with IPEX-like syndromes and activated with antibodies to CD3 and CD46 to generate IL-10-expressing T regulatory cells.

RESULTS:

We describe a patient with clinical manifestations of IPEX that had a normal Foxp3 gene, but who had CD25 deficiency due to autosomal recessive mutations in this gene. This patient exhibited defective IL-10 expression from CD4 lymphocytes, whereas a Foxp3-deficient patient expressed normal levels of IL-10.

CONCLUSION:

These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important.

CLINICAL IMPLICATIONS:

Any patient with features of IPEX but with a normal Foxp3 gene should be screened for mutations in the IL-2 receptor subunit CD25.

PMID:
17196245
DOI:
10.1016/j.jaci.2006.10.007
[Indexed for MEDLINE]

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