RESUMEN
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 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, 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 RAG1. Early recognition of this condition is important for genetic counseling and early treatment.
Asunto(s)
Alopecia/genética , Proteínas de Unión al ADN/genética , Dermatitis Exfoliativa/genética , Femenino , Reordenamiento Génico de Linfocito T , Hepatomegalia/genética , Heterocigoto , Proteínas de Homeodominio/genética , Humanos , Lactante , Enfermedades Linfáticas/genética , Marruecos , Mutación/genética , Proteínas Nucleares/genética , Inmunodeficiencia Combinada Grave/diagnóstico , Esplenomegalia/genética , SíndromeRESUMEN
An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.