MCID: IMM074
MIFTS: 21

Immunodeficiency 16

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

Aliases & Classifications for Immunodeficiency 16

MalaCards integrated aliases for Immunodeficiency 16:

Name: Immunodeficiency 16 57 75 29 6 73
Ox40 Deficiency 57 75
Imd16 57 75
Combined Immunodeficiency with Impaired Immunity to Human Herpes Virus 8 59
Combined Immunodeficiency with Childhood-Onset Kaposi Sarcoma 59
Combined Immunodeficiency with Impaired Immunity to Hhv-8 59
Combined Immunodeficiency Due to Ox40 Deficiency 59
Immunodeficiency, Type 16 40

Characteristics:

Orphanet epidemiological data:

59
combined immunodeficiency due to ox40 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 16:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615593
Orphanet 59 ORPHA431149
ICD10 via Orphanet 34 D81.8
MeSH 44 D007153
UMLS 73 C3810053

Summaries for Immunodeficiency 16

OMIM : 57 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 splenomegaly and pancytopenia

UniProtKB/Swiss-Prot : 75 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 9.7
2 sarcoma 9.7

Symptoms & Phenotypes for Immunodeficiency 16

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 16:

32
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 pancytopenia 32 HP:0001876
3 immunodeficiency 32 HP:0002721
4 coombs-positive hemolytic anemia 32 HP:0004844
5 kaposi's sarcoma 32 very rare (1%) HP:0100726

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 29 TNFRSF4

Anatomical Context for Immunodeficiency 16

MalaCards organs/tissues related to Immunodeficiency 16:

41
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

Variations for Immunodeficiency 16

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

75
# Symbol AA change Variation ID SNP ID
1 TNFRSF4 p.Arg65Cys VAR_070942 rs587777075

ClinVar genetic disease variations for Immunodeficiency 16:

6
(show all 18)
# 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 GRCh37 Chromosome 1, 1146965: 1146965
6 TNFRSF4 NM_003327.3(TNFRSF4): c.804C> T (p.Ala268=) single nucleotide variant Benign rs35160621 GRCh38 Chromosome 1, 1211585: 1211585
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 GRCh38 Chromosome 1, 1212033: 1212033
14 TNFRSF4 NM_003327.3(TNFRSF4): c.543C> T (p.Gly181=) single nucleotide variant Likely benign rs756542209 GRCh37 Chromosome 1, 1147413: 1147413
15 TNFRSF4 NM_003327.3(TNFRSF4): c.207G> A (p.Pro69=) single nucleotide variant Likely benign rs555467061 GRCh38 Chromosome 1, 1213724: 1213724
16 TNFRSF4 NM_003327.3(TNFRSF4): c.207G> A (p.Pro69=) single nucleotide variant Likely benign rs555467061 GRCh37 Chromosome 1, 1149104: 1149104
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

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 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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