IMD16
MCID: IMM074
MIFTS: 22

Immunodeficiency 16 (IMD16)

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

Aliases & Classifications for Immunodeficiency 16

MalaCards integrated aliases for Immunodeficiency 16:

Name: Immunodeficiency 16 58 76 30 6 74
Ox40 Deficiency 58 76
Imd16 58 76
Combined Immunodeficiency with Impaired Immunity to Human Herpes Virus 8 60
Combined Immunodeficiency with Childhood-Onset Kaposi Sarcoma 60
Combined Immunodeficiency with Impaired Immunity to Hhv-8 60
Combined Immunodeficiency Due to Ox40 Deficiency 60
Immunodeficiency, Type 16 41

Characteristics:

Orphanet epidemiological data:

60
combined immunodeficiency due to ox40 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
juvenile onset
one patient has been reported (last curated june 2016)
kaposi sarcoma lesions may be disseminated


HPO:

33
immunodeficiency 16:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 615593
MeSH 45 D007153
ICD10 via Orphanet 35 D81.8
Orphanet 60 ORPHA431149
UMLS 74 C3810053

Summaries for Immunodeficiency 16

OMIM : 58 Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency (Byun et al., 2013). (615593)

MalaCards based summary : Immunodeficiency 16, also known as ox40 deficiency, is related to kaposi sarcoma and sarcoma. An important gene associated with Immunodeficiency 16 is TNFRSF4 (TNF Receptor Superfamily Member 4). Affiliated tissues include t cells, and related phenotypes are kaposi's sarcoma and splenomegaly

UniProtKB/Swiss-Prot : 76 Immunodeficiency 16: An autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency.

Related Diseases for Immunodeficiency 16

Diseases related to Immunodeficiency 16 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kaposi sarcoma 9.9
2 sarcoma 9.9

Symptoms & Phenotypes for Immunodeficiency 16

Human phenotypes related to Immunodeficiency 16:

33
# Description HPO Frequency HPO Source Accession
1 kaposi's sarcoma 33 very rare (1%) HP:0100726
2 splenomegaly 33 HP:0001744
3 immunodeficiency 33 HP:0002721
4 pancytopenia 33 HP:0001876
5 coombs-positive hemolytic anemia 33 HP:0004844

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
kaposi sarcoma, human herpes virus-8 (hhv8)-associated

Neoplasia:
kaposi sarcoma, hhv-8-associated

Immunology:
impaired memory cd4+ t cell response to recall antigens

Clinical features from OMIM:

615593

Drugs & Therapeutics for Immunodeficiency 16

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 16

Genetic Tests for Immunodeficiency 16

Genetic tests related to Immunodeficiency 16:

# Genetic test Affiliating Genes
1 Immunodeficiency 16 30 TNFRSF4

Anatomical Context for Immunodeficiency 16

MalaCards organs/tissues related to Immunodeficiency 16:

42
T Cells

Publications for Immunodeficiency 16

Articles related to Immunodeficiency 16:

# Title Authors Year
1
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. ( 23897980 )
2013
2
Transgenic expression of survivin compensates for OX40-deficiency in driving Th2 development and allergic inflammation. ( 23616302 )
2013

Variations for Immunodeficiency 16

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 16:

76
# Symbol AA change Variation ID SNP ID
1 TNFRSF4 p.Arg65Cys VAR_070942 rs587777075

ClinVar genetic disease variations for Immunodeficiency 16:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNFRSF4 NM_003327.3(TNFRSF4): c.193C> T (p.Arg65Cys) single nucleotide variant Pathogenic rs587777075 GRCh37 Chromosome 1, 1149118: 1149118
2 TNFRSF4 NM_003327.3(TNFRSF4): c.193C> T (p.Arg65Cys) single nucleotide variant Pathogenic rs587777075 GRCh38 Chromosome 1, 1213738: 1213738
3 TNFRSF4 NM_003327.3(TNFRSF4): c.619G> A (p.Val207Met) single nucleotide variant Likely benign rs201461846 GRCh37 Chromosome 1, 1147337: 1147337
4 TNFRSF4 NM_003327.3(TNFRSF4): c.619G> A (p.Val207Met) single nucleotide variant Likely benign rs201461846 GRCh38 Chromosome 1, 1211957: 1211957
5 TNFRSF4 NM_003327.3(TNFRSF4): c.804C> T (p.Ala268=) single nucleotide variant Benign rs35160621 GRCh38 Chromosome 1, 1211585: 1211585
6 TNFRSF4 NM_003327.3(TNFRSF4): c.804C> T (p.Ala268=) single nucleotide variant Benign rs35160621 GRCh37 Chromosome 1, 1146965: 1146965
7 TNFRSF4 NM_003327.3(TNFRSF4): c.297C> T (p.Cys99=) single nucleotide variant Benign rs34160451 GRCh38 Chromosome 1, 1213065: 1213065
8 TNFRSF4 NM_003327.3(TNFRSF4): c.297C> T (p.Cys99=) single nucleotide variant Benign rs34160451 GRCh37 Chromosome 1, 1148445: 1148445
9 TNFRSF4 NM_003327.3(TNFRSF4): c.293T> C (p.Leu98Pro) single nucleotide variant Likely benign rs150516264 GRCh38 Chromosome 1, 1213069: 1213069
10 TNFRSF4 NM_003327.3(TNFRSF4): c.293T> C (p.Leu98Pro) single nucleotide variant Likely benign rs150516264 GRCh37 Chromosome 1, 1148449: 1148449
11 TNFRSF4 NM_003327.3(TNFRSF4): c.28C> T (p.Arg10Cys) single nucleotide variant Benign rs35304565 GRCh38 Chromosome 1, 1214100: 1214100
12 TNFRSF4 NM_003327.3(TNFRSF4): c.28C> T (p.Arg10Cys) single nucleotide variant Benign rs35304565 GRCh37 Chromosome 1, 1149480: 1149480
13 TNFRSF4 NM_003327.3(TNFRSF4): c.543C> T (p.Gly181=) single nucleotide variant Likely benign rs756542209 GRCh37 Chromosome 1, 1147413: 1147413
14 TNFRSF4 NM_003327.3(TNFRSF4): c.543C> T (p.Gly181=) single nucleotide variant Likely benign rs756542209 GRCh38 Chromosome 1, 1212033: 1212033
15 TNFRSF4 NM_003327.3(TNFRSF4): c.207G> A (p.Pro69=) single nucleotide variant Likely benign rs555467061 GRCh37 Chromosome 1, 1149104: 1149104
16 TNFRSF4 NM_003327.3(TNFRSF4): c.207G> A (p.Pro69=) single nucleotide variant Likely benign rs555467061 GRCh38 Chromosome 1, 1213724: 1213724
17 TNFRSF4 NM_003327.3(TNFRSF4): c.255G> A (p.Thr85=) single nucleotide variant Likely benign rs201768518 GRCh37 Chromosome 1, 1149056: 1149056
18 TNFRSF4 NM_003327.3(TNFRSF4): c.255G> A (p.Thr85=) single nucleotide variant Likely benign rs201768518 GRCh38 Chromosome 1, 1213676: 1213676
19 TNFRSF4 NM_003327.3(TNFRSF4): c.494T> C (p.Ile165Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1212082: 1212082
20 TNFRSF4 NM_003327.3(TNFRSF4): c.494T> C (p.Ile165Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1147462: 1147462
21 TNFRSF4 NM_003327.3(TNFRSF4): c.80C> T (p.Thr27Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1214048: 1214048
22 TNFRSF4 NM_003327.3(TNFRSF4): c.80C> T (p.Thr27Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1149428: 1149428
23 TNFRSF4 NM_003327.3(TNFRSF4): c.448G> T (p.Ala150Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1212128: 1212128
24 TNFRSF4 NM_003327.3(TNFRSF4): c.448G> T (p.Ala150Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1147508: 1147508
25 TNFRSF4 NM_003327.3(TNFRSF4): c.146-2A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1213787: 1213787
26 TNFRSF4 NM_003327.3(TNFRSF4): c.146-2A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1149167: 1149167
27 TNFRSF4 NM_003327.3(TNFRSF4): c.721C> T (p.Arg241Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1211746: 1211746
28 TNFRSF4 NM_003327.3(TNFRSF4): c.721C> T (p.Arg241Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1147126: 1147126

Expression for Immunodeficiency 16

Search GEO for disease gene expression data for Immunodeficiency 16.

Pathways for Immunodeficiency 16

GO Terms for Immunodeficiency 16

Sources for Immunodeficiency 16

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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