MCID: ATS020
MIFTS: 27

Autosomal Recessive Hyper Ige Syndrome malady

Genetic diseases, Rare diseases, Immune diseases categories

Summaries for Autosomal Recessive Hyper Ige Syndrome

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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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 44 21
hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive 44 23
hyper-immunoglobulin e syndrome, autosomal recessive 63
hyper ig e syndrome, autosomal recessive 44
ar hyperimmunoglobulin e syndrome 44
immunologic deficiency syndromes 63
hies autosomal recessive 44
dock8 deficiency 44
ar-hies 44


Related Diseases for Autosomal Recessive Hyper Ige Syndrome

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Autosomal Recessive Hyper Ige Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Autosomal Recessive Hyper Ige Syndrome:

id Genetic test Affiliating Genes
1 Autosomal Recessive Hyper Ige Syndrome21 DOCK8
2 Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive23

Anatomical Context for Autosomal Recessive Hyper Ige Syndrome

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34MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Hyper Ige Syndrome:

34
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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53PubMed
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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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16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet