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, respiratory tract infections, failure to thrive |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | ADA, E7 region |
| Base Change: | G>A, at nucleotide 646 |
| Amino Acid Change: | gly 216 --> arg |
| 2 Unknown / Other Mennonite | |
| Gene: | ADA |
| Base Change: | Deletion of Exon 5 |
| Amino Acid Change: | |
| 3 Old Colony Mennonite | |
| Gene: | ADA |
| Base Change: | C>T |
| Amino Acid Change: | arg 142 --> |
| Last updated: | 2007-08-01 |
| References |
|---|
| 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 |
| 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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