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SHR Neuro Krebs Kardio Lipid

Speckmann, C; Doerken, S; Aiuti, A; Albert, MH; Al-Herz, W; Allende, LM; Scarselli, A; Avcin, T; Perez-Becker, R; Cancrini, C; Cant, A; Di Cesare, S; Finocchi, A; Fischer, A; Gaspar, HB; Ghosh, S; Gennery, A; Gilmour, K; González-Granado, LI; Martinez-Gallo, M; Hambleton, S; Hauck, F; Hoenig, M; Moshous, D; Neven, B; Niehues, T; Notarangelo, L; Picard, C; Rieber, N; Schulz, A; Schwarz, K; Seidel, MG; Soler-Palacin, P; Stepensky, P; Strahm, B; Vraetz, T; Warnatz, K; Winterhalter, C; Worth, A; Fuchs, S; Uhlmann, A; Ehl, S; P-CID study of the Inborn Errors Working Party of the EBMT.
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
J Allergy Clin Immunol. 2017; 139(4):1302-1310 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Seidel Markus
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Abstract:
Absent T-cell immunity resulting in life-threatening infections provides a clear rationale for hematopoetic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID). Combined immunodeficiencies (CIDs) and "atypical" SCID show reduced, not absent T-cell immunity. If associated with infections or autoimmunity, they represent profound combined immunodeficiency (P-CID), for which outcome data are insufficient for unambiguous early transplant decisions. We sought to compare natural histories of severity-matched patients with/without subsequent transplantation and to determine whether immunologic and/or clinical parameters may be predictive for outcome. In this prospective and retrospective observational study, we recruited nontransplanted patients with P-CID aged 1 to 16 years to compare natural histories of severity-matched patients with/without subsequent transplantation and to determine whether immunologic and/or clinical parameters may be predictive for outcome. A total of 51 patients were recruited (median age, 9.6 years). Thirteen of 51 had a genetic diagnosis of "atypical" SCID and 14 of 51 of CID. About half of the patients had less than 10% naive T cells, reduced/absent T-cell proliferation, and at least 1 significant clinical event/year, demonstrating their profound immunodeficiency. Nineteen patients (37%) underwent transplantation within 1 year of enrolment, and 5 of 51 patients died. Analysis of the HSCT decisions revealed the anticipated heterogeneity, favoring an ongoing prospective matched-pair analysis of patients with similar disease severity with or without transplantation. Importantly, so far neither the genetic diagnosis nor basic measurements of T-cell immunity were good predictors of disease evolution. The P-CID study for the first time characterizes a group of patients with nontypical SCID T-cell deficiencies from a therapeutic perspective. Because genetic and basic T-cell parameters provide limited guidance, prospective data from this study will be a helpful resource for guiding the difficult HSCT decisions in patients with P-CID. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Child -
Child, Preschool -
Female -
Hematopoietic Stem Cell Transplantation -
Humans -
Infant -
Male -
Prospective Studies -
Research Design -
Severe Combined Immunodeficiency - immunology
Severe Combined Immunodeficiency - pathology
Severe Combined Immunodeficiency - therapy

Find related publications in this database (Keywords)
T-cell deficiency
combined immunodeficiency
hematopoietic stem cell transplantation
natural history
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