Here I present: “Hyper-IgE Syndrome“, Victor McKusick, Mendelian Inheritance in Man’, 1966. 高免疫球蛋白E綜合徵。(HIES1).
INTRODUCTION.
Hyper-IgE syndrome type-1 with recurrent infections (HIES1) is an autosomal dominant immunologic disorder characterized by chronic eczema (atopy), recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Other more variable immunologic abnormalities include defective granulocyte chemotaxis, abnormalities in T-lymphocyte subgroups, impaired antibody production, and decreased production of or response to certain cytokines. Importantly, the same immune system defects are not found in all patients. Some patients may have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.
There is evidence that autosomal dominant hyper-IgE syndrome type-1 with recurrent infections (HIES1) is caused by heterozygous mutation in the signal transducer and activator transcription type-3 (STAT3) gene on cytogenetic location 17q21.2 and genomic coordinates 17:42,313,324-42,388,442. The screenshot of the STAT3 gene 75,119 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides STAT3 in the 17q21.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 17:42,184,060 | HCRT | Hypocretin |
| 17:42,189,087 | GHDC | GH3 domain-containing protein |
| 17:42,199,177 | STAT5B | Signal transducer and activator transcription 5B |
| 17:42,287,439 | STAT5A | Signal transducer and activator transcription 5a |
| 17:42,313,324 | STAT3 | Signal transducer and activator transcription-3 |
| 17:42,402,449 | CAVIN1 | Caveolae-associated protein 1 |
| 17:42,458,878 | ATP6V0A1 | ATPase, H+ transporting, V0 subunit A1 |
| 17:42,536,241 | NAGLU | N-acetylglucosaminidase, alpha- |
| 17:42,552,923 | HSD17B1 | Estradiol 17-beta-dehydrogenase-1 |
| 17:42,562,148 | COASY | Coenzyme A synthase |
