Immunodeficiencies with autoimmune consequences.

[omenn syndrome]

Far from being mutually exclusive , immunodeficiency and autoimmunity may occur simultaneously . During the last years , analysis of Autoimmune Polyendocrinopathy--Candidiasis--Ectodermal Dystrophy (APECED ) and Immunodysregulation--Polyendocrinopathy--Enteropathy --X-linked (IPEX ), two rare monogenic forms of immunodeficiency associated with autoimmunity , has led to the identification of Auto Immune Regulator (AIRE ) and Forkhead Box P 3 (FOXP 3 ), essential transcriptional regulators , involved in central tolerance and peripheral immune homeostasis , respectively . Characterization of the molecular and cellular mechanisms involved in APECED , and recognition that AIRE expression is sustained by effective thymopoiesis , has recently allowed to define that the autoimmunity of Omenn syndrome , a combined immunodeficiency due to defects of V (D )J recombination , also results from defective expression of AIRE . The implications of identification of the basis of autoimmunity in these rare forms of immunodeficiency have important implications for a better understanding of more common autoimmune disorders , and for development of novel therapeutic approaches .

Diseases
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Diseases presenting "rare monogenic forms" symptom

omenn syndrome

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