Omenn syndrome with mutation in RAG1 gene.

[omenn syndrome]

Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia , hepatosplenomegaly , lymphadenopathy , and alopecia . Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG 1 and RAG 2 ) and in ARTEMIS genes and more recently defects in IL 7 RA , and RMRP genes have been described to be responsible of this peculiar immunodeficiency . The authors report here a Moroccan patient of four -months -old with classical features of Omenn syndrome , carrying a deletion at the N terminal part of RAG 1 . Early recognition of this condition is important for genetic counseling and early treatment .

Diseases
Validation

Diseases presenting "severe combined immunodeficiency" symptom

achondroplasia

alpha-thalassemia

child syndrome

cholangiocarcinoma

junctional epidermolysis bullosa

krabbe disease

omenn syndrome

severe combined immunodeficiency

wiskott-aldrich syndrome

This symptom has already been validated