Immunodeficiency 52; Imd52
Description
IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).
Genes related to Immunodeficiency 52; Imd52
- LAT
Clinical Features
Top most frequent phenotypes and symptoms related to Immunodeficiency 52; Imd52
- Failure to thrive
- Anemia
- Splenomegaly
- Edema
- Thrombocytopenia
- Encephalopathy
- Pneumonia
- Immunodeficiency
- Recurrent infections
- Hepatosplenomegaly
Incidence and onset information
— Not enough data available about incidence and published cases.
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Immunodeficiency 52; Imd52 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
LAT.
By Fulgent Genetics Fulgent Genetics in United States.
LAT
Specificity
100 %
Genes
100 % |
Primary Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 255 more genes
Specificity
1 %
Genes
100 % |
Severe Combined Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Alternate names
Immunodeficiency 52; Imd52 Is also known as ;scid due to lat deficiency.
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