Introduction: Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, eosinophilia and elevated IgE. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2), in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. Method; Clinical case analysis, literature review
Clinical case; Newborn female, with onset of syntomatology at 15 days of extrauterine life, with generalized erythematous rash-like skin lesions, irritability and desquamation. The patient also has a history of a sister who presented a similar condition and died at 2 months of age due to sepsis. This leads us to suspect Omenn’s Syndrome. She was evaluated by immunology and genetics, who requested complete blood count (CBC) and immunoglobulins. Laboratory results showed eosinophilia hypogammaglobulinemia predominantly of IgG. She was hospitalized and was administered Intravenous gammaglobulin treatment, antimicrobial and antifungals prophylaxis. The patient was referred for hematopoietic progenitor cell transplantation, with a poor life prognosis without hematopoietic cell transplatation. The patient died of sepsis at 2 month of age. Because of patient evolution, it was not posible to realize molecular genetic testing.
Discussion: Severe inborn immunity error, erythroderma, eosinophilia, hypogammaglobulinemia were evidenced. PIDs are potentially severe, timely immunologic diagnosis and treatment with bone marrow or hematopoietic stem cell transplantation is implicated in their prognosis.