Autoimmune Hemolytic Anemia-autoimmune Thrombocytopenia-primary Immunodeficiency Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Autoimmune Hemolytic Anemia-autoimmune Thrombocytopenia-primary Immunodeficiency Syndrome

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy
  • Hemolytic anemia
  • Hepatitis
  • Hemiparesis
  • Recurrent otitis media
  • Lymphopenia

And another 4 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

Autoimmune Hemolytic Anemia-autoimmune Thrombocytopenia-primary Immunodeficiency Syndrome Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease, tppii deficiency, triangle disease, tripeptidyl-peptidase ii deficiency, evans syndrome associated with primary immunodeficien.

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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Autoimmune Hemolytic Anemia-autoimmune Thrombocytopenia-primary Immunodeficiency Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TPP2 Sequencing.

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

TPP2
Specificity
100 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae (United States).

RMRP, SH2D1A, SLC7A7, BTK, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TREX1, ACP5, UNG , (...)

View the complete list with 53 more genes
Specificity
2 %
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 %
TPP2.

By Fulgent Genetics Fulgent Genetics (United States).

TPP2
Specificity
100 %
Genes
100 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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