Immunodeficiency 20; Imd20

Description

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).

Clinical Features

Phenotypes and symptoms related to Immunodeficiency 20; Imd20

  • Nevus
  • Immunodeficiency
  • Respiratory tract infection
  • Otitis media
  • Recurrent otitis media
  • Sinusitis
  • Papilloma
  • Recurrent sinusitis

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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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
Specificity
3 %
Genes
100 %
FCGR3A.

By Fulgent Genetics Fulgent Genetics in United States.

FCGR3A
Specificity
100 %
Genes
100 %
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
Specificity
1 %
Genes
100 %

Alternate names

Immunodeficiency 20; Imd20 Is also known as ;autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity; cd16 deficiency.


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