Bone marrow transplantation for T−B− severe combined immunodeficiency disease in Athabascan-speaking native Americans

@article{OMarcaigh2001BoneMT,
  title={Bone marrow transplantation for T−B− severe combined immunodeficiency disease in Athabascan-speaking native Americans},
  author={A S O'Marcaigh and Kenneth B Desantes and Diana Hu and Henry F. Pabst and Biljana Horn and L. Li and M J Cowan},
  journal={Bone Marrow Transplantation},
  year={2001},
  volume={27},
  pages={703-709}
}
A distinct form of autosomal recessive T−B− severe combined immunodeficiency disease occurs with a high frequency among Athabascan-speaking Native Americans (SCIDA), including Navajo and Apache Indians from the southwestern US and Dene Indians from the Canadian Northwest Territories. The SCIDA gene has been linked to markers on chromosome 10p although its identity and role in the pathogenesis of this disease are unknown. We report our experience in treating 18 Navajo and Dene children with… 
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SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.
TLDR
A retrospective analysis of patients with severe combined immunodeficiency who received a hematopoietic cell transplantation as first-line treatment between 1982 and 2012 in 33 North American institutions found that Infection-free status and younger age at HCT were associated with improved survival.
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TLDR
The case of an infant with X-linked severe combined immunodeficiency is reported, confirmed by DNA sequencing of the common gamma chain gene locus, in which this disorder's characteristic peripheral lymphocyte phenotype [T(-)B(+)NK(-)] was obscured by the postnatal onset of hemophagocytic syndrome.
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  • Medicine, Biology
    The Journal of allergy and clinical immunology
  • 2010
Post-Transplantation B Cell Function in Different Molecular Types of SCID
TLDR
Results showed that B cell chimerism was not required for normal B cell function in IL7Rα-Def, ADA-Def and CD3-Def SCIDs, but in X-linked-SCID, Jak3-def SCID and those with V-D-J recombination defects, donor B cell Chimerismwas necessary for B cell functions to develop.
Long term outcomes of severe combined immunodeficiency: therapy implications
TLDR
While the majority of patients with SCID survive HCT, data regarding late effects in these patients is limited and additional studies focused on genotype specific late effects are needed, prospective studies aimed at minimizing the use of alkylating agents and reducing late effects beyond survival are needed.
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