Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive
| Disorder | |
|---|---|
| OMIM #: | #608971 (Click to access OMIM database) |
| Disorder: | Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive |
| Also known as: | |
| Clinical | |
| Phenotype: | recurrent infections, sepsis, pneumonia, failure to thrive, cell-mediated immunodeficiency, lymphadenopathy, decreased T cells |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | IL7R |
| Base Change: | T>G, at nucleotide 2 |
| Amino Acid Change: | met 1 --> arg |
| 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 |
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