IMD20
MCID: IMM077
MIFTS: 23

Immunodeficiency 20 (IMD20)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 20

MalaCards integrated aliases for Immunodeficiency 20:

Name: Immunodeficiency 20 58 76 30 6 74
Imd20 58 76
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Natural Killer Cell Cytotoxicity 60
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Nk Cell Cytotoxicity 60
Immunodeficiency, Type 20 41
Cd16 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

33
immunodeficiency 20:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 615707
MeSH 45 D007153
ICD10 via Orphanet 35 D84.8
Orphanet 60 ORPHA437552
SNOMED-CT via HPO 70 195788001 234532001 258211005
UMLS 74 C3810342

Summaries for Immunodeficiency 20

OMIM : 58 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). (615707)

MalaCards based summary : Immunodeficiency 20, also known as imd20, is related to anemia, autoimmune hemolytic and hemolytic anemia. An important gene associated with Immunodeficiency 20 is FCGR3A (Fc Fragment Of IgG Receptor IIIa). Affiliated tissues include nk cells, and related phenotypes are immunodeficiency and recurrent otitis media

UniProtKB/Swiss-Prot : 76 Immunodeficiency 20: A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV).

Related Diseases for Immunodeficiency 20

Diseases related to Immunodeficiency 20 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anemia, autoimmune hemolytic 9.8
2 hemolytic anemia 9.8
3 arthus reaction 9.8

Symptoms & Phenotypes for Immunodeficiency 20

Human phenotypes related to Immunodeficiency 20:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 recurrent otitis media 33 HP:0000403
3 recurrent sinusitis 33 HP:0011108

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
recurrent respiratory infections

Head And Neck Ears:
otitis media, recurrent

Head And Neck Face:
sinusitis, recurrent

Immunology:
recurrent infections, particularly herpes viral
papillomavirus infection
lymphoproliferation
decreased or normal numbers of nk cells
defective nk function in spontaneous cellular cytotoxicity
more

Clinical features from OMIM:

615707

Drugs & Therapeutics for Immunodeficiency 20

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 20

Genetic Tests for Immunodeficiency 20

Genetic tests related to Immunodeficiency 20:

# Genetic test Affiliating Genes
1 Immunodeficiency 20 30 FCGR3A

Anatomical Context for Immunodeficiency 20

MalaCards organs/tissues related to Immunodeficiency 20:

42
Nk Cells

Publications for Immunodeficiency 20

Articles related to Immunodeficiency 20:

# Title Authors Year
1
Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity. ( 23006327 )
2012
2
Common variable immunodeficiency: 20-yr experience at a single centre. ( 18798799 )
2009
3
Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections. ( 8874200 )
1996
4
A triallelic Fc gamma receptor type IIIA polymorphism influences the binding of human IgG by NK cell Fc gamma RIIIa. ( 8609432 )
1996
5
Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II). ( 8608639 )
1996

Variations for Immunodeficiency 20

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 20:

76
# Symbol AA change Variation ID SNP ID
1 FCGR3A p.Leu66His VAR_008800 rs10127939

ClinVar genetic disease variations for Immunodeficiency 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FCGR3A NM_001127593.1(FCGR3A): c.197T> A (p.Leu66His) single nucleotide variant Uncertain significance rs10127939 GRCh37 Chromosome 1, 161518333: 161518333
2 FCGR3A NM_001127593.1(FCGR3A): c.197T> A (p.Leu66His) single nucleotide variant Uncertain significance rs10127939 GRCh38 Chromosome 1, 161548543: 161548543
3 FCGR3A NM_001127593.1(FCGR3A): c.96T> C (p.Pro32=) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 161518434: 161518434
4 FCGR3A NM_001127593.1(FCGR3A): c.96T> C (p.Pro32=) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 161548644: 161548644

Expression for Immunodeficiency 20

Search GEO for disease gene expression data for Immunodeficiency 20.

Pathways for Immunodeficiency 20

GO Terms for Immunodeficiency 20

Sources for Immunodeficiency 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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