MCID: ATS020
MIFTS: 27

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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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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: Autosomal Recessive Hyper Ige Syndrome, also known as hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive, is related to hyper ige syndrome and molluscum contagiosum. An important gene associated with Autosomal Recessive Hyper Ige Syndrome is DOCK8 (dedicator of cytokinesis 8). The drugs immunoglobulins and cytomegalovirus immune globulin have been mentioned in the context of this disorder. Affiliated tissues include t cells and skin.

Aliases & Classifications for Autosomal Recessive Hyper Ige Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

autosomal recessive hyper ige syndrome 43 20
hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive 43 22
hyper-immunoglobulin e syndrome, autosomal recessive 62
hyper ig e syndrome, autosomal recessive 43
ar hyperimmunoglobulin e syndrome 43
immunologic deficiency syndromes 62
hies autosomal recessive 43
dock8 deficiency 43
ar-hies 43


Related Diseases for Autosomal Recessive Hyper Ige Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Autosomal Recessive Hyper Ige Syndrome family:

Autosomal Dominant 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 syndrome10.7
2molluscum contagiosum10.3
3factor viii deficiency10.3
4hyper-ige recurrent infection syndrome, autosomal recessive10.3
5tyrosine kinase 2 deficiency10.3
6hematopoietic stem cell transplantation10.3
7eosinophilic pneumonia10.1
8pneumonia10.1

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Autosomal Recessive Hyper Ige Syndrome

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Autosomal Recessive Hyper Ige Syndrome

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Hyper Ige Syndrome:

33
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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52PubMed
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Articles related to Autosomal Recessive Hyper Ige Syndrome:

idTitleAuthorsYear
1
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. (23020750)
2013
2
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
3
Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. (20622910)
2011
4
Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. (21058221)
2010
5
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
6
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Autosomal Recessive Hyper Ige Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1DOCK8NM_203447.3(DOCK8): c.1418A> G (p.Lys473Arg)single nucleotide variantPathogenicrs112321280GRCh37Chr 9, 336714: 336714
2DOCK8NG_017007.1: g.123966_184170deldeletionPathogenicGRCh37Chr 9, 333830: 394034
3DOCK8NC_000009.12: g.311734_398139del86406deletionPathogenicGRCh37Chr 9, 311734: 398139

Expression for genes affiliated with Autosomal Recessive Hyper Ige Syndrome

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15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Autosomal Recessive Hyper Ige Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet