Severe Combined Immunodeficiency, due to adenosine deaminase deficiency
| Disorder | |
|---|---|
| OMIM #: | #102700 (Click to access OMIM database) |
| Disorder: | Severe Combined Immunodeficiency, due to adenosine deaminase deficiency |
| Also known as: | SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, SCID DUE TO ADA DEFICIENCY, ADA-SCID, SCID DUE TO ADA DEFICIENCY, EARLY-ONSET, SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED, SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED |
| Clinical | |
| Phenotype: | sepsis, pneumonia, recurrent infections, failure to thrive, absent B cells, absent T cells, absent natural killer cells, reduced adenosine deaminase activity |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | ADA |
| Base Change: | G>A, at nucleotide 646 |
| Amino Acid Change: | gly 216 --> arg |
| 2 Old Colony Mennonite, Unknown / Other Mennonite | |
| Gene: | ADA |
| Base Change: | C>T, at nucleotide 424 |
| Amino Acid Change: | arg 142 --> term |
| Last updated: | 2022-11-13 |
| References |
|---|
| Grunebaum E, Cohen A, Roifman CM. (2013) Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies. Curr Opin Allergy Clin Immunol Dec;13(6):630-8. PubMed ID: 24113229 |
| Hirschhorn R, Chakravarti V, Puck J, and Douglas SD. (1991) Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am J Hum Genet 49(4): 878-885. PubMed ID: 1680289 |
| 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 |
| Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML, et al. (1995) Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Hum Mol Genet 4(11): 2081-2087. PubMed ID: 8589684 |
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