Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive malady
Categories: Genetic diseases, Rare diseases, Blood diseases, Bone diseases, Immune diseases, Skin diseases
Aliases & Descriptions for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:
Orphanet epidemiological data:53
combined immunodeficiency due to dock8 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Bone diseases, Immune diseases, Skin diseases
Rare immunological diseases
NIH Rare Diseases:47 Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far.In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene. Last updated: 1/14/2014
MalaCards based summary: Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive, also known as hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive, is related to immunodeficiency 35 and hyper ige syndrome, and has symptoms including sinusitis, otitis media and eczema. An important gene associated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive is DOCK8 (Dedicator Of Cytokinesis 8). Affiliated tissues include skin, t cells and b cells.
Genetics Home Reference:25 Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune system. A hallmark feature of the condition is recurrent infections that are severe and can be life-threatening. Skin infections can be caused by bacteria, viruses, or fungi. These infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with AR-HIES also tend to have frequent bouts of pneumonia and other respiratory tract infections.
OMIM:51 Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized... (243700) more...
UniProtKB/Swiss-Prot:69 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive: A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.
Diseases in the Hyper-Ige Recurrent Infection Syndrome family:
Diseases related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:63 53 (show all 31)
Drugs for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
Search NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive
MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:35
Skin, T cells, B cells
UniProtKB/Swiss-Prot genetic disease variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:69
Clinvar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:5
Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet