![]() ![]() Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Rao K, Amrolia PJ, Jones A, Cale CM, Naik P, King D, et al. Long-term health outcome and quality of life post-HSCT for IL7Ralpha-, Artemis-, RAG1- and RAG2-deficient severe combined immunodeficiency: a single center report. 2017 13(11):1029–40.Ībd Hamid IJ, Slatter MA, McKendrick F, Pearce MS, Gennery AR. Long term outcomes of severe combined immunodeficiency: therapy implications. ![]() Transplantation outcomes for severe combined immunodeficiency, 2000–2009. Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, et al. SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Prockop SE, et al. RAG deficiency: two genes, many diseases. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, et al. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010–2018). 2019 39(3):316–23.ĭvorak CC, Haddad E, Buckley RH, Cowan MJ, Logan B, Griffith LM, et al. Clinical features and HSCT outcome for SCID in Turkey. Ikinciogullari A, Cagdas D, Dogu F, Tugrul T, Karasu G, Haskologlu S, et al. The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. This study identifies diagnostic and therapeutic approaches predictive of favorable outcomes for patients with SCID. The OS rate was lower in patients who underwent transplant with active infection or received stem cells from mismatched donors ( p = 0.030, p = 0.015 respectively). Post-transplant TCR diversity was sufficient in the patients and showed an equal distribution pattern as healthy controls. Furthermore, receiving a conditioning regimen provided better B-cell reconstitution and chimerism ( p = 0.003, p = 0.001). Gender matching transplantations from human leukocyte antigen (HLA)–identical and non-identical donors and using peripheral blood stem cell source yielded higher B-cell reconstitution ( p = 0.002, p = 0.028 respectively). ![]() Peripheral blood stem cell sources and genotypes other than RAG had a significant favorable impact on CD4 + T cells immune reconstitution after transplantation ( p = 0.044, p = 0.035 respectively). The overall survival (OS) rate was 83.3% after HSCT, higher than in non-transplanted patients ( p = 0.001). The most common SCID phenotype was T-B-NK + , and mutations in recombination-activating genes ( RAG1/2) were the prominent genetic defect among patients. Symptom onset and diagnostic ages were significantly higher in AS compared to others ( p = 0.001 p < 0.001). ![]() The median age at diagnosis was 5 (range: 3–24) months and follow-up time was 25 (range: 5–61) months. Lymphocyte subsets and T-cell receptor (TCR) repertoire were analyzed by flow cytometry. We evaluated the clinical presentation, infections, and outcome of hematopoietic stem cell transplantation (HSCT). We included 54 SCID patients (classical SCID, Omenn syndrome, atypical SCID (AS)) in this study. We aimed to evaluate the pre- and post-transplant manifestations of SCID patients and determine the factors affecting the survival of patients. The long-term outcomes of all forms of SCID have been evaluated in a limited number of studies. Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity characterized by absence or loss of function in T cells. ![]()
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