Amish, Mennonite, and Hutterite
Genetic Disorder Database

Severe Combined Immunodeficiency, due to ZAP70 deficiency

Disorder
OMIM #: #269840  (Click to access OMIM database)
Disorder: Severe Combined Immunodeficiency, due to ZAP70 deficiency 
Also known as: Selective T-cell defect (STCD) 
Clinical
Phenotype: sepsis, pneumonia, respiratory tract infections, failure to thrive, cell-mediated immunodeficiency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Colony Mennonite, Unknown / Other Mennonite  
Gene: ZAP70
Base Change: c.1624-11G>A
Amino Acid Change: splicing defect
Last updated: 2018-04-19 

References
Arpaia E, Shahar M, Dadi H, Cohen A, and Roifman CM. (1994) Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Cell 76(5): 947-958.
PubMed ID: 8124727 
Haworth JC, Hoogstraten J, Taylor H. (1967) Thymic alymphoplasia. Arch Dis Child 42(221):40-54.
PubMed ID: 6019467 
Monafo WJ, Polmar SH, Neudorf S, Mather A, Filipovich AH. (1992) A hereditary immunodeficiency characterized by CD8+ T lymphocyte deficiency and impaired lymphocyte activation. Clin Exp Immunol Dec;90(3):390-3.
PubMed ID: 1333922 
Schroeder ML, Triggs-Raine B, Zelinski T. (2016) Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites. BMC Med Genet Jul 22;17(1):50.
PubMed ID: 27448562 

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