Omenn Syndrome: Case of Severe Combined Immune Deficiency

Abstract Omenn syndrome (OS) is a rare form of severe combined immunodeficiency (SCID) with susceptibility to serious infections of the skin, lungs, joints, and septicemia. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with SCID. These patients also suffer from opportunistic infections, including ear infections, recurrent pneumonitis due to Pneumocystis jiroveci, or to viruses such as cytomegalovirus, adenovirus or parainfluenza virus, and profuse oral candidiasis. The majority of mutations causing this condition are missense mutations in recombinase-activating genes, namely RAG1 and RAG 2. We report a case of 4-month-old female baby with a history of repeated bacterial, viral, and fungal infections since birth and failure to thrive. She was treated with antibiotics and antifungal for her recurrent infections. Investigations revealed the diagnosis of SCID. Further genetic studies showed RAG 1 gene mutation, thus confirming OS. The baby, however, succumbed to severe sepsis with shock during her third admission.