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:51
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:45 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 susceptibility to infection due to tyk2 deficiency, and has symptoms including verrucae, skin ulcer and cellular immunodeficiency. 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:23 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:49 Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized... (243700) more...
UniProtKB/Swiss-Prot:67 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:(show all 17)
Graphical network of diseases related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:
Symptoms by clinical synopsis from OMIM:243700
Clinical features from OMIM:243700
Symptoms:51 (show all 14)
HPO human phenotypes related to Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:(show all 20)
Drugs for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
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:33
Skin, T cells, B cells, Lung, Bone
UniProtKB/Swiss-Prot genetic disease variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive:67
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.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet