Autoinflammation With Arthritis And Dyskeratosis; Aiadk

Description

Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Autoinflammation With Arthritis And Dyskeratosis; Aiadk

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency
  • Edema
  • Diarrhea
  • Splenomegaly
  • Hyperhidrosis
  • Hyperkeratosis

And another 23 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.

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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Autoinflammation With Arthritis And Dyskeratosis; Aiadk Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRP1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

NLRP1
Specificity
100 %
Genes
100 %
NLRP1. Complete sequencing.

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

NLRP1
Specificity
100 %
Genes
100 %
NLRP1.

By Fulgent Genetics Fulgent Genetics (United States).

NLRP1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics (Finland).

TNFAIP3, TNFRSF1A, TREX1, ACP5, NLRP1, LPIN2, IL36RN, SAMHD1, NLRP3, NLRC4, CARD14, TRNT1, RNASEH2A, IFIH1, DDX58, ADAR, NLRP12, SLC29A3, RNASEH2C, OTULIN , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Vitiligo.

By Bioarray (Spain).

NLRP1
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

We have -1 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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