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).

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUBEROUS SCLEROSIS 2; TSC2 PERRAULT SYNDROME 3; PRLTS3 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B OHDO SYNDROME, SBBYS VARIANT; SBBYSS RUIJS-AALFS SYNDROME; RJALS AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA MENTAL RETARDATION, X-LINKED 49; MRX49