IMD20
MCID: IMM077
MIFTS: 22

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 57 75 29 6 73
Imd20 57 75
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Natural Killer Cell Cytotoxicity 59
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Nk Cell Cytotoxicity 59
Immunodeficiency, Type 20 40
Cd16 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
immunodeficiency 20:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615707
Orphanet 59 ORPHA437552
ICD10 via Orphanet 34 D84.8
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 234532001 195788001
UMLS 73 C3810342

Summaries for Immunodeficiency 20

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 20:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 recurrent otitis media 32 HP:0000403
3 recurrent sinusitis 32 HP:0011108

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 29 FCGR3A

Anatomical Context for Immunodeficiency 20

MalaCards organs/tissues related to Immunodeficiency 20:

41
Nk Cells

Publications for Immunodeficiency 20

Articles related to Immunodeficiency 20:

# Title Authors Year
1
Common variable immunodeficiency: 20-yr experience at a single centre. ( 18798799 )
2009

Variations for Immunodeficiency 20

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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