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, recurrent infections, failure to thrive, cell-mediated immunodeficiency, severe combined immunodeficiency, absent CD8+ T cells |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite, Unknown / Other Mennonite | |
| Gene: | ZAP70 |
| Base Change: | c.1624-11G>A |
| Amino Acid Change: | splicing defect |
| Last updated: | 2022-11-13 |
| 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 |
| Jilkina O, Thompson JR, Kwan L, Van Caeseele P, Rockman-Greenberg C, Schroeder ML. (2014) Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases. Mol Genet Metab Rep Aug 7;1:324-333. PubMed ID: 27896105 |
| 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 |
| Thompson JR, Greenberg CR, Dick A, Jilkina O, Kwan L, Rubin TS, Zelinski T, Schroeder ML, Van Caeseele P. (2018) Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int J Neonatal Screen Jun 19;4(2):19. PubMed ID: 33072942 |
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