Bibi Shahin Shamsian, Amirreza Paksaz, Zahra Chavoshzadeh, Samin Sharafian, Seyed Morteza Tabatabaee Yazdi, Mahnaz Jamee
Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2023 FebOmenn syndrome is a rare subtype of severe combined immunodeficiency. Affected patients present recurrent infections, lymphadenopathy, skin eruptions, eosinophilia, hepatosplenomegaly, failure to thrive, and gastrointestinal complications with variable severity. A 3-month-old female infant, born to consanguineous healthy parents, presented with splenomegaly, erythroderma, failure to thrive, and history of recurrent otitis media, hypothyroidism, and Bacille Calmette-Guérin lymphadenitis following Bacille Calmette-Guérin vaccination.The immunologic workup showed lymphopenia; low levels of CD3+ T cells, CD4+ T cells, and CD8+ T cells; normal levels of CD19+ B cells and CD16+/CD56+ natural killer cells; hypogammaglobulinemia; and a high level of serum immunoglobulin E. She was clinically diagnosed with T-B+NK+ severe combined immunodeficiency. Genetic study revealed a missense homozygous alteration (c.617G>A, p.Arg206Gln) in exon 5 of the IL7R gene in the patient, as well as carrier states for the same variant in both parents. The patient received a peripheral blood stem cell transplant from a matched unrelated donor. A reduced intensity conditioning regimen was applied, including fludarabine, melphalan, rabbit antithymocyte globulin, and graft- versus-host disease prophylaxis by cyclosporine and mycophenolate mofetil. She clinically improved, and after engraftment the donor chimerism was 100% at 1 year after transplant. Hematopoietic stem cell transplantis a curative therapeutic option for patients with Omenn syndrome and, when combined with an early diagnosis, can prevent complications and improve patient survival.
Bibi Shahin Shamsian, Amirreza Paksaz, Zahra Chavoshzadeh, Samin Sharafian, Seyed Morteza Tabatabaee Yazdi, Mahnaz Jamee. Successful Hematopoietic Stem Cell Transplant in a Patient with Omenn Syndrome: A Case Report. Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation. 2023 Feb;21(2):189-193
PMID: 36919728
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