Immunodeficiency 16; Imd16
Description
Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency (Byun et al., 2013).
Genes related to Immunodeficiency 16; Imd16
- TNFRSF4
Clinical Features
Phenotypes and symptoms related to Immunodeficiency 16; Imd16
- Pica
- Splenomegaly
- Coma
- Immunodeficiency
- Respiratory tract infection
- Pancytopenia
- Sarcoma
- Mania
- Coombs-positive hemolytic anemia
- Kaposi's sarcoma
Incidence and onset information
— Based on the latest data available there are 1 published cases of Immunodeficiency 16; Imd16 in Europe.
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Immunodeficiency 16; Imd16 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Combined immunodeficiencies Panel.
By CeGaT GmbH in Germany.
TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)
View the complete list with 40 more genes
Specificity
2 %
Genes
100 % |
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.
By Invitae in United States.
TAP1, AK2, ADA, IL2RG, PNP, DCLRE1C, MAGT1, DOCK8, JAK3, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, ITK, RAC2, NHEJ1, LIG4 , (...)
View the complete list with 29 more genes
Specificity
3 %
Genes
100 % |
Invitae Primary Immunodeficiency Panel.
By Invitae in United States.
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 187 more genes
Specificity
1 %
Genes
100 % |
Invitae Combined Immunodeficiency (CID) Panel.
By Invitae in United States.
TAP1, MAGT1, DOCK8, CD40LG, ZAP70, ITK, RAC2, LRBA, CD27, CIITA, RFX5, RFXANK, RFXAP, STK4, ICOS, CARD11, B2M, IL21, IL21R, MALT1 , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
TNFRSF4.
By Fulgent Genetics Fulgent Genetics in United States.
TNFRSF4
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 % |
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.
By Reference Laboratory Genetics in Spain.
STAT1, TGFB1, STAT3, IKBKG, GATA2, DCLRE1C, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, RAG1, AKT1, CXCR4, PIK3CD, NFKBIA, CTLA4, IL17F , (...)
View the complete list with 21 more genes
Specificity
3 %
Genes
100 % |
Alternate names
Immunodeficiency 16; Imd16 Is also known as ox40 deficiency;combined immunodeficiency with childhood-onset kaposi sarcoma; combined immunodeficiency with impaired immunity to hhv-8; combined immunodeficiency with impaired immunity to human herpes virus 8.
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