Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive

Description

Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections
  • Coarse facial features
  • Hemolytic anemia
  • Asthma
  • Otitis media
  • Eczema

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive Is also known as hyper-ige syndrome, autosomal recessive, hies, autosomal recessive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hyper-ige Recurrent Infection Syndrome, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
DOCK8 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DOCK8
Specificity
100 %
Genes
100 %
DOCK8 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DOCK8
Specificity
100 %
Genes
100 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

RPGR, BDNF, SCNN1A, SCNN1B, SCNN1G, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, STAT3, TERC, TERT, NKX2-1, TSC1, TSC2, RSPH1, HPS3, HPS4 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
DOCK8 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

DOCK8
Specificity
100 %
Genes
100 %
DOCK8. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

DOCK8
Specificity
100 %
Genes
100 %
DOCK8. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

DOCK8
Specificity
100 %
Genes
100 %

We have 39 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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