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Atypical Omenn Syndrome Due to Rag2 Gene Mutation, a Case Report Publisher Pubmed



Pourvali A1 ; Arshi S1 ; Nabavi M1 ; Bemanian MH1 ; Shokri S1 ; Shahrooei M2 ; Rezaei N3 ; Fallahpour M1
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Authors Affiliations
  1. 1. Allergy Department, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Belgium
  3. 3. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Immunology Published:2019


Abstract

Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodeficiency with granulomas. One interesting manifestation in RAG mutation is the change in the immunophenotype over time, even after hematopoietic stem cell transplantation (HSCT). As bone marrow transplantation (BMT) is the only curative treatment of SCID, it is necessary to differentiate between SCID and OS due to the different conditioning regimens (CR). We present a novel case of atypical SCID (SCID manifestations with more than 300 CD3+T cells) caused by RAG 2 gene mutation whose immunophenotype changed to atypical Omenn syndrome (all Omenn syndrome manifestations except rash, eosinophilia, and elevated IgE) over time. Differentiation of leaky SCID, SCID and Omenn syndrome in RAG mutation genes and overlap manifestations is important in treatment plan and prognosis. © 2019, Shiraz University of Medical Sciences. All rights reserved.
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