Immunodeficiency 51; Imd51

Description

Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (OMIM ), IL17F (OMIM ), IL17A/F, and IL17E (IL25 ) (summary by Levy et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 51; Imd51

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Inflammatory abnormality of the skin
  • Recurrent otitis media
  • Sinusitis
  • Recurrent skin infections
  • Bronchitis

And another 8 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

Immunodeficiency 51; Imd51 Is also known as candf5, formerly, candidiasis, familial, 5, formerly.

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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Immunodeficiency 51; Imd51 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Candidiasis, familial 5 AR (sequence analysis of IL17RA gene).

By CGC Genetics (Portugal).

IL17RA
Specificity
100 %
Genes
100 %
Candidiasis, familial (NGS panel for 5 genes).

By CGC Genetics (Portugal).

TRAF3IP2, CLEC7A, CARD9, IL17F, IL17RA
Specificity
20 %
Genes
100 %
IL17RA.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

IL17RA
Specificity
100 %
Genes
100 %
Candidiasis (CMC) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

STAT1, TLR3, IL17F, AIRE, IL17RA, IL2RA
Specificity
17 %
Genes
100 %
Defects in innate immunity Panel.

By CeGaT GmbH (Germany).

STAT1, TBK1, TLR3, TRAF3, TRAF3IP2, UNC93B1, CARD9, IL17F, TIRAP, IRAK4, TMC6, TICAM1, TMC8, CXCR4, IL17RA, APOL1, MCM4, MYD88, NFKBIA
Specificity
6 %
Genes
100 %
Invitae Chronic Mucocutaneous Candidiasis Panel.

By Invitae (United States).

TRAF3IP2, IL17F, IL17RC, IL17RA
Specificity
25 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
IL17RA.

By Fulgent Genetics Fulgent Genetics (United States).

IL17RA
Specificity
100 %
Genes
100 %

We have 3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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