RESUMO
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.
Assuntos
Alopecia/genética , Proteínas de Ligação a DNA/genética , Dermatite Esfoliativa/genética , Feminino , Rearranjo Gênico do Linfócito T , Hepatomegalia/genética , Heterozigoto , Proteínas de Homeodomínio/genética , Humanos , Lactente , Doenças Linfáticas/genética , Marrocos , Mutação/genética , Proteínas Nucleares/genética , Imunodeficiência Combinada Severa/diagnóstico , Esplenomegalia/genética , SíndromeRESUMO
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.