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Omenn syndrome in an infant with IL7RA gene mutation.

Giliani, Silvia; Bonfim, Carmen; de Saint Basile, Genevieve; Lanzi, Gaetana; Brousse, Nicole; Koliski, Adriana; Malvezzi, Mariester; Fischer, Alain; Notarangelo, Luigi D; Le Deist, Francoise.

J Pediatr ; 148(2): 272-4, 2006 Feb.

Article in English | MEDLINE | ID: mdl-16492442

ABSTRACT

Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.

Subject(s)

Mutation , Receptors, Interleukin-7/genetics , Severe Combined Immunodeficiency/genetics , Amino Acid Substitution , Consanguinity , Humans , Infant , Leukocyte Common Antigens/metabolism , Male , Phenotype , Severe Combined Immunodeficiency/diagnosis , T-Lymphocytes/metabolism

ABSTRACT

Subject(s)

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