Immunodeficiency 20; Imd20
Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by Grier et al., 2012).
Genes related to Immunodeficiency 20; Imd20
Clinical FeaturesPhenotypes and symptoms related to Immunodeficiency 20; Imd20
- Respiratory tract infection
- Otitis media
- Recurrent otitis media
- Recurrent sinusitis
Incidence and onset information— Not enough data available about incidence and published cases.
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Immunodeficiency 20; Imd20 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Syndromes with immunodeficiency Panel.
By CeGaT GmbH in Germany.
PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)
View the complete list with 18 more genes
By Fulgent Genetics Fulgent Genetics in United States.
Tempus xT assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)
View the complete list with 571 more genes
Immunodeficiency 20; Imd20 Is also known as ;autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity; cd16 deficiency.
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