Chronic Granulomatous Disease
| Disorder | |
|---|---|
| OMIM #: | #306400 (Click to access OMIM database) |
| Disorder: | Chronic Granulomatous Disease |
| Also known as: | CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, CHRONIC GRANULOMATOUS DISEASE, X-LINKED |
| Clinical | |
| Phenotype: | respiratory tract infections, lymphadenopathy, failure to thrive, cell-mediated immunodeficiency, splenomegaly, hepatomegaly, hepatic abscesses, pererectal abscesses, osteomyelitis, dermatitis, eczema, cellulitis, various recurrent infections (bacterial, fungal, etc.) |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CYBB |
| Base Change: | C>A, at nucleotide 1335 |
| Amino Acid Change: | cys 445 --> term |
| 2 Amish | |
| Gene: | CYBB |
| Base Change: | G>A, at nucleotide 1222 |
| Amino Acid Change: | gly 408 --> arg |
| Last updated: | 2022-11-02 |
| 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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