Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal dominant
17q21.2
Autosomal Dominant HIES is a rare multisystem primary immunodeficiency syndrome characterized by elevetd serum IgE levels, eczema, pyogenic skin and lung infections, and distinctive facial features. Causal mutations in the STAT3 gene have been identified ins everal patients with his condition.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 147060.1 | Lebanon | Female | No | Abnormal circulating IgE level; Eczema;... Abnormal circulating IgE level; Eczema; Cutaneous abscess ; Recurrent otitis media; Pneumonia; Pulmonary pneumatocele; Scoliosis; Persistence of primary teeth  | NM_139276.3:c.1384_1386GTG[1] | Heterozygous | Autosomal, Dominant | Jiao et al, 2008 | de novo mutation | |
| 147060.2 | Lebanon | Male | No | Abnormal circulating IgE level; Eczema;... Abnormal circulating IgE level; Eczema; Cutaneous abscess; Recurrent otitis media; Pneumonia; Pulmonary pneumatocele; Pectus excavatum; | NM_003150.3:c.1909G>A | Heterozygous | Autosomal, Dominant | Jiao et al, 2008 | de novo mutation | |
| 147060.3 | United Arab Emirates | Female | Yes | No | Eczema; Invasive pulmonary aspergillosis... Eczema; Invasive pulmonary aspergillosis; Bronchiectasis; Persistence of primary teeth; Increased circulating IgE level | NM_139276.3:c.1979T>C | Heterozygous | Autosomal, Dominant | Alsamri et al. 2020 | Atopy reported in fa... |