Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive
| Disorder | |
|---|---|
| OMIM #: | #601457 (Click to access OMIM database) |
| Disorder: | Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive |
| Also known as: | SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE |
| Clinical | |
| Phenotype: | severe combined immunodeficiency, failure to thrive, sepsis, pneumonia, frequent infections, respiratory tract infections, absent peripheral blood B cells, absent peripheral blood T cells |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | RAG1 |
| Base Change: | A>G, at nucleotide 2974 |
| Amino Acid Change: | lys 992 --> glu |
| Last updated: | 2022-11-13 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
| Strauss KA, Puffenberger EG, Bunin N, Rider NL, Morton MC, Eastman JT 3rd, Morton DH. (2008) Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. Clin Immunol Jul;128(1):31-8. PubMed ID: 18442948 |
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