ABSTRACT
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.
Subject(s)
Alopecia/genetics , DNA-Binding Proteins/genetics , Dermatitis, Exfoliative/genetics , Female , Gene Rearrangement, T-Lymphocyte , Hepatomegaly/genetics , Heterozygote , Homeodomain Proteins/genetics , Humans , Infant , Lymphatic Diseases/genetics , Morocco , Mutation/genetics , Nuclear Proteins/genetics , Severe Combined Immunodeficiency/diagnosis , Splenomegaly/genetics , SyndromeABSTRACT
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.