Here I present: “Familial Eosinophilia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 家族性嗜酸性粒細胞增多症。icd10=D72.1 (EOS).
INTRODUCTION.
Familial eosinophilia is an autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 1,500 eosinophils/micro liter of blood) with or without other oragn involvement.
Familial eosinophilia is a congenital disorder characterized by the presence of sustained elevations in blood eosinophil levels that reach ranges diagnostic of eosinophilia (500–1500/microliter) or, far more commonly, hypereosinophilia (>1,500/microliter). Although high eosinophil levels are associated with certain diseases and thought to contribute to the tissue destruction found in many other eosinophilia-related diseases clinical manifestations and tissue destruction related to the eosinophilia in familial eosinophilia is uncommon.
There is evidence that familial eosinophilia is caused by mutations in the EOS gene encoded cytogenetic location 5q31-q33 and genomic coordinates 5:131,200,001-160,500,000. The screenshot of the EOS gene 29,300,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides EOS in the 5q31-q33 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:131,200,001 | AITD2 | Autoimmune thyroid disease susceptibility 2 |
| 5:131,200,001 | ATOD6 | Dermatitis, atopic, 6 |
| 5:131,200,001 | CELIAC2 | Celiac disease, susceptibility to, 2 |
| 5:131,200,001 | DFNA54 | Deafness, autosomal dominant 54 |
| 5:131,200,001 | EOS | Eosinophilia, familial |
| 5:131,200,001 | IBD5 | Inflammatory bowel disease 5 |
| 5:131,200,001 | IDDM18 | Insulin-dependent diabetes mellitus-18 |
| 5:131,200,001 | IGES | Immunoglobulin E concentration, serum |
| 5:131,200,001 | LBNBG | Liebenberg syndrome |
| 5:131,200,001 | PCDHA@ | Protocadherin-alpha gene cluster |
