MCID: ATS020
MIFTS: 23

Autosomal Recessive Hyper Ige Syndrome malady

Genetic diseases, Rare diseases, Immune diseases categories
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Summaries for Autosomal Recessive Hyper Ige Syndrome

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NIH Rare Diseases:42 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: Autosomal Recessive Hyper Ige Syndrome, also known as hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive, is related to hyper ige syndrome and hyper-ige recurrent infection syndrome, autosomal recessive. An important gene associated with Autosomal Recessive Hyper Ige Syndrome is DOCK8 (dedicator of cytokinesis 8). Affiliated tissues include t cells and skin.

Aliases & Classifications for Autosomal Recessive Hyper Ige Syndrome

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Autosomal Recessive Hyper Ige Syndrome, Aliases & Descriptions:

Name: Autosomal Recessive Hyper Ige Syndrome 42 20
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 42 22
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 62
Hyper Ig E Syndrome, Autosomal Recessive 42
 
Ar Hyperimmunoglobulin E Syndrome 42
Hies Autosomal Recessive 42
Dock8 Deficiency 42
Ar-Hies 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases


Related Diseases for Autosomal Recessive Hyper Ige Syndrome

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Diseases in the Autosomal Dominant Hyper Ige Syndrome family:

autosomal recessive hyper ige syndrome

Diseases related to Autosomal Recessive Hyper Ige Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyper ige syndrome10.8
2hyper-ige recurrent infection syndrome, autosomal recessive10.5
3hematopoietic stem cell transplantation10.3
4factor viii deficiency10.3
5molluscum contagiosum10.3
6immunodeficiency 3510.3
7progressive multifocal leukoencephalopathy10.1
8eosinophilic pneumonia10.1
9pneumonia10.1
10chromosome 9p deletion10.1

Graphical network of diseases related to Autosomal Recessive Hyper Ige Syndrome:



Diseases related to autosomal recessive hyper ige syndrome

Symptoms for Autosomal Recessive Hyper Ige Syndrome

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Drugs & Therapeutics for Autosomal Recessive Hyper Ige Syndrome

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Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Hyper Ige Syndrome

Search NIH Clinical Center for Autosomal Recessive Hyper Ige Syndrome

Genetic Tests for Autosomal Recessive Hyper Ige Syndrome

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Genetic tests related to Autosomal Recessive Hyper Ige Syndrome:

id Genetic test Affiliating Genes
1 Autosomal Recessive Hyper Ige Syndrome20 DOCK8
2 Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive22

Anatomical Context for Autosomal Recessive Hyper Ige Syndrome

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MalaCards organs/tissues related to Autosomal Recessive Hyper Ige Syndrome:

32
T cells, Skin

Animal Models for Autosomal Recessive Hyper Ige Syndrome or affiliated genes

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Publications for Autosomal Recessive Hyper Ige Syndrome

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Articles related to Autosomal Recessive Hyper Ige Syndrome:

idTitleAuthorsYear
1
A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome. (24673638)
2014
2
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. (23020750)
2013
3
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. (21763205)
2011
4
Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. (20622910)
2011
5
Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. (21058221)
2010
6
Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency. (20810158)
2010
7
Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome. (17483712)
2007

Variations for Autosomal Recessive Hyper Ige Syndrome

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Expression for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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Search GEO for disease gene expression data for Autosomal Recessive Hyper Ige Syndrome.

Pathways for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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Compounds for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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GO Terms for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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Products for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Autosomal Recessive Hyper Ige Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet