Severe Combined Immunodeficiency, due to CD3-delta deficiency
| Disorder | |
|---|---|
| OMIM #: | #615617 (Click to access OMIM database) |
| Disorder: | Severe Combined Immunodeficiency, due to CD3-delta deficiency |
| Also known as: | Immunodeficiency 19 (IMD19) SCID, T cell-negative, B cell-positive, NK cell-positive |
| Clinical | |
| Phenotype: | severe combined immunodeficiency, cell-mediated immunodeficiency, recurrent infections, absent CD3+ T cells |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| ReferencesLam S, Kavadas FD, Haider S, Noseworthy ME. (2014) The respiratory presentation of severe combined immunodeficiency in two Mennonite children at a tertiary centre highlighting the importance of recognizing this pediatric emergency. Can Respir J Jan-Feb;21(1):17-9. PubMed ID: 24288697 1 Old Colony Mennonite, Unknown / Other Mennonite |
|
| Gene: | CD3D |
| Base Change: | C>T, at nucleotide 202 |
| Amino Acid Change: | arg 68 --> term |
| Last updated: | 2022-11-13 |
| References |
|---|
| Alsalamah M, Sarpal A, Siu VM, Gibson P, Rupar CA, Barton M, Salvadori MI, Goobie S. (2015) Hemophagocytic lymphohistiocytosis in a patient with CD3δ deficiency. LymphoSign Journal 2(4): 201-206. |
| Dadi HK, Simon AJ, Roifman CM. (2003) Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med Nov 6;349(19):1821-8. PubMed ID: 14602880 |
| 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 |
| Lam S, Kavadas FD, Haider S, Noseworthy ME. (2014) The respiratory presentation of severe combined immunodeficiency in two Mennonite children at a tertiary centre highlighting the importance of recognizing this pediatric emergency. Can Respir J Jan-Feb;21(1):17-9. PubMed ID: 24288697 |
| Marcus N, Takada H, Law J, Cowan MJ, Gil J, Regueiro JR, Plaza Lopez de Sabando D, Lopez-Granados E, Dalal J, Friedrich W, Manfred H, Hanson IC, Grunebaum E, Shearer WT, Roifman CM. (2011) Hematopoietic stem cell transplantation for CD3δ deficiency. J Allergy Clin Immunol Nov;128(5):1050-7. PubMed ID: 21757226 |
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