Parts 1 and 2 - Retrospective and Cross-Sectional Studies. Patient inclusion criteria for the cross sectional study: Eligibility for Strata A, B and C are the same as for the retrospective study except that all the patients in the cross-sectional study are currently surviving and are at least 2 years post the most recent class of therapy. Strata A, B, and C (Part 2 - Cross-Sectional Study): Any SCID patient previously treated with a thymus transplant (includes intention to treat with HCT, as well as PEG-ADA ERT or gene therapy). Individuals who meet the following criteria and were treated with PEG-ADA or gene therapy with autologous modified cells are eligible for enrollment into Stratum C (SCID with non-HCT treatments) of the study. absence of granulopoiesis on bone marrow examination a pathogenic mutation in the adenylate kinase 2 (AK2) gene identified.Sensorineural deafness and/or absence of granulopoiesis at bone marrow examination and/or a deleterious AK2 mutation,.Severe congenital neutropenia (absolute neutrophil count No or very low (Absence or very low number of T cells (CD3 T cells
AND/OR >50% of CD3+ or CD4+ T cells express HLA-DR (at 80% of CD4+ T cells are CD45RO+ *proliferation to PHA is reduced AND/OR >80% of CD3+ or CD4+ T cells are,CD62L negative,.Absence or very low number of T cells (CD3 T cells 80% of CD3+ or CD4 T cells are CD45RO+,.Individuals who meet the following inclusion criteria and who received HCT are eligible for enrollment into Stratum A of the study: The enrollment criteria for subjects who died prior to definitive therapy are the same as for Strata A, B and C. Subjects who received HCT/GT/ERT prior to the present date are eligible for the retrospective study.are not enrolled in RDCRN PIDTC-6901 ( ID: NCT01186913). were treated at a location participating in this consortium from 1968 until present, and Individuals with Severe Combined Immune Deficiency (SCID) diagnosis who: Strata A, B, and C (Part 1 - Retrospective Study). Why Should I Register and Submit Results?.
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