Platelet Abnormalities With Eosinophilia And Immune-mediated Inflammatory Disease; Plteid

Description

PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Platelet Abnormalities With Eosinophilia And Immune-mediated Inflammatory Disease; Plteid

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia
  • Skin rash
  • Lymphadenopathy
  • Asthma
  • Vasculitis
  • Eosinophilia

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.

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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Platelet Abnormalities With Eosinophilia And Immune-mediated Inflammatory Disease; Plteid Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARPC1B.

By Fulgent Genetics Fulgent Genetics (United States).

ARPC1B
Specificity
100 %
Genes
100 %
Thrombocytopenia Panel.

By Blueprint Genetics (Finland).

RUNX1, SRC, THBD, WAS, WIPF1, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, MASTL, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FLNA, FYB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
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 %
Platelet Function Disorder Panel.

By Blueprint Genetics (Finland).

RUNX1, TBXA2R, THPO, WIPF1, HPS3, HPS4, HPS5, DTNBP1, P2RY12, HPS6, BLOC1S3, NBEAL2, GP1BA, GP1BB, GP9, HPS1, AP3B1, ITGA2B, ITGB3, ARPC1B , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics (Finland).

RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...)

View the complete list with 218 more genes
Specificity
1 %
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 -2 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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