IMD20
MCID: IMM077
MIFTS: 36

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 12 72 29 6 15 70
Imd20 57 12 72
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Natural Killer Cell Cytotoxicity 12 58
Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Nk Cell Cytotoxicity 12 58
Cd16 Deficiency 12 58
Immunodeficiency, Type 20 39

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

31
immunodeficiency 20:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111941
OMIM® 57 615707
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA437552
SNOMED-CT via HPO 68 195788001 234532001 258211005
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 20, also known as imd20, is related to bacterial infectious disease and transient neonatal neutropenia. An important gene associated with Immunodeficiency 20 is FCGR3A (Fc Fragment Of IgG Receptor IIIa), and among its related pathways/superpathways are Innate Immune System and RANK Signaling in Osteoclasts. Affiliated tissues include nk cells, and related phenotypes are immunodeficiency and recurrent otitis media

Disease Ontology : 12 A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has material basis in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3.

UniProtKB/Swiss-Prot : 72 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:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 bacterial infectious disease 29.5 ICOSLG FCGR3B FCGR3A
2 transient neonatal neutropenia 10.2 FCGR3B FCGR3A
3 oxirane allergy 10.2 FCGR3B FCGR3A
4 herpetic whitlow 10.2 FCGR3B FCGR3A
5 chronic nk-cell lymphocytosis 10.2 FCGR3B FCGR3A
6 selective igg deficiency disease 10.2 FCGR3B FCGR3A
7 mosaic variegated aneuploidy syndrome 2 10.2 FCGR3B FCGR3A
8 anauxetic dysplasia 1 10.2 FCGR3B FCGR3A
9 dermatitis, atopic, 5 10.2 FCGR3B FCGR3A
10 trichothiodystrophy 5, nonphotosensitive 10.2 FCGR3B FCGR3A
11 aggressive nk-cell leukemia 10.2 FCGR3B FCGR3A
12 chickenpox 10.1 ICOSLG FCGR3A
13 hypersensitivity vasculitis 10.1 ICOSLG FCGR3B
14 systemic autoimmune disease 10.1 FCGR3A FCGR2B
15 cryptococcosis 10.1 FCGR3B FCGR3A
16 selective immunoglobulin deficiency disease 10.1 UNC13D ICOSLG
17 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 10.1 FCGR3B FCGR3A
18 poliomyelitis 10.1 FCGR3B FCGR3A
19 autoimmune neuropathy 10.1 ICOSLG FCGR2B
20 herpes zoster 10.1 ICOSLG FCGR3A
21 autoimmune glomerulonephritis 10.1 ICOSLG FCGR2B
22 autoimmune disease of urogenital tract 10.1 ICOSLG FCGR2B
23 primary thrombocytopenia 10.1 ICOSLG FCGR2B
24 hypersensitivity reaction type iii disease 10.1 ICOSLG FCGR2B
25 thrombocytopenia due to platelet alloimmunization 10.1 ICOSLG FCGR2B
26 autoimmune disease of blood 10.0 ICOSLG FCGR2B
27 thrombocytopenic purpura, autoimmune 10.0 ICOSLG FCGR2B
28 mast cell neoplasm 10.0 ICOSLG FCGR2B
29 leukocyte disease 10.0 ICOSLG FCGR3B FCGR3A
30 chediak-higashi syndrome 10.0 UNC13D ICOSLG
31 hypotrichosis 1 10.0 ICOSLG FCGR2B
32 behcet syndrome 10.0 ICOSLG FCGR3B FCGR3A
33 microscopic polyangiitis 9.9 FCGR3B FCGR3A FCGR2B
34 nk cell deficiency 9.9 MCM4 FCGR3B FCGR3A
35 chronic inflammatory demyelinating polyradiculoneuropathy 9.9 ICOSLG CD59
36 anemia, autoimmune hemolytic 9.9 ICOSLG CD59
37 trichohepatoenteric syndrome 1 9.9 UNC13D MCM4
38 myeloma, multiple 9.9 ICOSLG FCGR3B FCGR3A
39 lupus erythematosus 9.8 FCGR3B FCGR3A FCGR2B
40 hemoglobinuria 9.8 FCGR3B CD59
41 immune deficiency disease 9.7
42 common variable immunodeficiency 9.7
43 bronchiectasis 9.7
44 autoimmune disease 9.7 ICOSLG FCGR3B FCGR3A FCGR2B
45 combined immunodeficiency 9.7 ICOSLG FCGR3B FCGR3A
46 paroxysmal nocturnal hemoglobinuria 9.5 FCGR3B CD59
47 lymphoma, non-hodgkin, familial 9.5 ICOSLG FCGR3A CD59
48 leukemia, chronic lymphocytic 9.5 ICOSLG FCGR3B FCGR3A CD59
49 malaria 9.3 ICOSLG FCGR3B FCGR3A FCGR2B CD59

Graphical network of the top 20 diseases related to Immunodeficiency 20:



Diseases related to Immunodeficiency 20

Symptoms & Phenotypes for Immunodeficiency 20

Human phenotypes related to Immunodeficiency 20:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent otitis media 31 HP:0000403
3 recurrent sinusitis 31 HP:0011108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Nk Cells

Publications for Immunodeficiency 20

Articles related to Immunodeficiency 20:

# Title Authors PMID Year
1
Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity. 57 6
23006327 2012
2
Identification of an unusual Fc gamma receptor IIIa (CD16) on natural killer cells in a patient with recurrent infections. 57 6
8874200 1996
3
Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II). 6 57
8608639 1996
4
A triallelic Fc gamma receptor type IIIA polymorphism influences the binding of human IgG by NK cell Fc gamma RIIIa. 6
8609432 1996
5
Pneumocystis jiroveci pneumonia in Taiwan from 2014 to 2017: Clinical manifestations and outcomes between pediatric and adult patients. 61
31164278 2019
6
Common variable immunodeficiency: 20-yr experience at a single centre. 61
18798799 2009
7
Respiratory syncytial virus infection in children admitted to hospital but ventilated mechanically for other reasons. 61
19031467 2009
8
Chronic granulomatous disease of childhood: differential diagnosis and prognosis. 61
8052796 1993
9
Hodgkin's disease in pediatric patients with naturally occurring immunodeficiency. 61
3592132 1987

Variations for Immunodeficiency 20

ClinVar genetic disease variations for Immunodeficiency 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FCGR3A NM_000569.8(FCGR3A):c.700C>T (p.Arg234Ter) SNV Pathogenic 998354 GRCh37: 1:161512867-161512867
GRCh38: 1:161543077-161543077
2 FCGR3A NM_000569.8(FCGR3A):c.208C>T (p.Gln70Ter) SNV Pathogenic 1034272 GRCh37: 1:161518322-161518322
GRCh38: 1:161548532-161548532
3 FCGR3A NM_001127593.1(FCGR3A):c.-62-151dup Duplication Pathogenic 1034273 GRCh37: 1:161519737-161519738
GRCh38: 1:161549947-161549948
4 FCGR3A NM_001127593.1(FCGR3A):c.-62-192T>C SNV Uncertain significance 1034274 GRCh37: 1:161519780-161519780
GRCh38: 1:161549990-161549990
5 FCGR3A NM_000569.8(FCGR3A):c.145G>A (p.Gly49Arg) SNV Uncertain significance 1034271 GRCh37: 1:161518385-161518385
GRCh38: 1:161548595-161548595
6 FCGR3A NM_001127593.1(FCGR3A):c.96T>C (p.Pro32=) SNV Uncertain significance 626106 rs769001959 GRCh37: 1:161518434-161518434
GRCh38: 1:161548644-161548644
7 FCGR3A NM_001127593.1(FCGR3A):c.197T>A (p.Leu66His) SNV Uncertain significance 14828 rs10127939 GRCh37: 1:161518333-161518333
GRCh38: 1:161548543-161548543

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

72
# Symbol AA change Variation ID SNP ID
1 FCGR3A p.Leu66His VAR_008800 rs10127939

Expression for Immunodeficiency 20

Search GEO for disease gene expression data for Immunodeficiency 20.

Pathways for Immunodeficiency 20

Pathways related to Immunodeficiency 20 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 UNC13D ICOSLG FCGR3B FCGR3A FCGR2B CD59
2
Show member pathways
12.12 FCGR3B FCGR3A FCGR2B
3 11.75 FCGR3B FCGR3A FCGR2B
4 11.61 FCGR3B FCGR3A FCGR2B
5 11.32 FCGR3B FCGR3A FCGR2B
6 11.11 FCGR3B FCGR3A FCGR2B
7 10.74 ICOSLG FCGR3B FCGR3A FCGR2B

GO Terms for Immunodeficiency 20

Cellular components related to Immunodeficiency 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 WFIKKN2 UNC13D FCGR3B FCGR3A CD59
2 external side of plasma membrane GO:0009897 8.8 ICOSLG FCGR3A FCGR2B

Biological processes related to Immunodeficiency 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.43 FCGR3B FCGR3A FCGR2B
2 neutrophil degranulation GO:0043312 9.33 UNC13D FCGR3B CD59
3 regulation of immune response GO:0050776 9.13 FCGR3B FCGR3A FCGR2B
4 cell surface receptor signaling pathway GO:0007166 8.92 FCGR3B FCGR3A FCGR2B CD59

Molecular functions related to Immunodeficiency 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.13 FCGR3B FCGR3A FCGR2B
2 IgG binding GO:0019864 8.8 FCGR3B FCGR3A FCGR2B

Sources for Immunodeficiency 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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