Omenn syndrome
| Disorder | |
|---|---|
| OMIM #: | #603554 (Click to access OMIM database) |
| Disorder: | Omenn syndrome |
| Also known as: | Reticuloendotheliosis, familial, with eosinophilia severe combined immunodeficiency with hyper eosinophilia |
| Clinical | |
| Phenotype: | alopecia, erythroderma, hepatomegaly, splenomegaly, hypereosinophilia,anemia, lymphadenopathy, recurrent infections, abnormal lymph nodes, immunoglobulin deficiency |
| 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: | 2022-11-15 |
| References |
|---|
| 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 128(1):31-8. PubMed ID: 18442948 |
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