OKT4D
MCID: OKT001
MIFTS: 19

Okt4 Epitope Deficiency (OKT4D)

Categories: Genetic diseases

Aliases & Classifications for Okt4 Epitope Deficiency

MalaCards integrated aliases for Okt4 Epitope Deficiency:

Name: Okt4 Epitope Deficiency 57 29 13 6 39 70
T4 Epitope Deficiency 57
Okt4d 57

Classifications:



External Ids:

OMIM® 57 613949
MedGen 41 C3151379
UMLS 70 C3151379

Summaries for Okt4 Epitope Deficiency

MalaCards based summary : Okt4 Epitope Deficiency, also known as t4 epitope deficiency, is related to autoimmune disease and myeloma, multiple. An important gene associated with Okt4 Epitope Deficiency is CD4 (CD4 Molecule). Affiliated tissues include t cells, and related phenotype is abnormal t cell morphology.

More information from OMIM: 613949

Related Diseases for Okt4 Epitope Deficiency

Diseases related to Okt4 Epitope Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 autoimmune disease 10.1
2 myeloma, multiple 10.1
3 thymoma, familial 10.1
4 agammaglobulinemia 10.1
5 thymoma 10.1
6 pustulosis of palm and sole 10.1
7 human immunodeficiency virus infectious disease 10.1
8 acquired immunodeficiency syndrome 10.1
9 connective tissue disease 10.1
10 herpes zoster 10.1
11 collagen disease 10.1
12 psoriasis 10.1
13 polyarteritis nodosa 10.0

Graphical network of the top 20 diseases related to Okt4 Epitope Deficiency:



Diseases related to Okt4 Epitope Deficiency

Symptoms & Phenotypes for Okt4 Epitope Deficiency

Human phenotypes related to Okt4 Epitope Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abnormal t cell morphology 31 HP:0002843

Clinical features from OMIM®:

613949 (Updated 20-May-2021)

Drugs & Therapeutics for Okt4 Epitope Deficiency

Search Clinical Trials , NIH Clinical Center for Okt4 Epitope Deficiency

Genetic Tests for Okt4 Epitope Deficiency

Genetic tests related to Okt4 Epitope Deficiency:

# Genetic test Affiliating Genes
1 Okt4 Epitope Deficiency 29 CD4

Anatomical Context for Okt4 Epitope Deficiency

MalaCards organs/tissues related to Okt4 Epitope Deficiency:

40
T Cells

Publications for Okt4 Epitope Deficiency

Articles related to Okt4 Epitope Deficiency:

(show all 35)
# Title Authors PMID Year
1
Autosomal codominant inheritance and Japanese incidence of deficiency of OKT4 epitope with lack of reactivity resulting from conformational change. 57 6 61
7689618 1993
2
Humans with OKT4-epitope deficiency have a single nucleotide base change in the CD4 gene, resulting in substitution of TRP240 for ARG240. 6 57 61
1708753 1991
3
A single amino acid substitution in a common African allele of the CD4 molecule ablates binding of the monoclonal antibody, OKT4. 57 6
1961196 1991
4
Flow cytometry analysis of OKT4 epitope deficiency in South African black children. 57 61
7527746 1994
5
Inherited absence of OKT4 lymphocyte antigen in a chronically transfused patient with homozygous sickle cell disease. 57
3874945 1985
6
Systemic lupus erythematosus with deficiency of the T4 epitope on T helper/inducer cells. 57
2582253 1985
7
Hereditary deficiency of OKT4-positive cells: studies for mode of inheritance and lymphocyte functions. 57
6209207 1984
8
Heterogeneity in expression of the T4 epitope in black individuals. 57
6208600 1984
9
A family with hereditary lack of T4+ inducer/helper T cell subsets in peripheral blood lymphocytes. 57
6229573 1984
10
Antigenic polymorphism of the T4 differentiation antigen expressed on human T helper/inducer lymphocytes. 57
6199335 1984
11
Hereditary abnormalities of the OKT4 human lymphocyte epitope in two families. 57
6199366 1984
12
Unusual phenotypes of human inducer T cells as measured by OKT4 and related monoclonal antibodies. 57
6790623 1981
13
Human herpesvirus 7 infection of CD4+(+) T cells does not require expression of the OKT4 epitope. 61
9000103 1996
14
Primary Sjögren's syndrome and psoriasis vulgaris in a case of OKT4 epitope deficiency. 61
7541811 1995
15
[Abnormality of CD4 molecule--OKT4 epitope deficiency]. 61
7533863 1995
16
OKT4 epitope deficiency in patients infected with the human immunodeficiency virus: a cause of underestimation of the CD4 lymphocyte count. 61
7534484 1994
17
[OKT4 epitope deficiency in collagen disease patients]. 61
7684165 1993
18
Adult T-cell leukaemia in patients with OKT4 epitope deficiency. 61
1722995 1991
19
[Genetic, immunological and functional studies on lymphocytes with OKT4-epitope deficiency]. 61
1711311 1991
20
Immunochemical and functional characterization of anti-idiotypic antibodies to a mouse anti-CD4 monoclonal antibody. 61
1815763 1991
21
Single amino acid substitution in the V3 domain of CD4 is responsible for OKT4 epitope deficiency. 61
1716607 1991
22
[OKT4 epitope deficiency in a patient with thymoma and hypogammaglobulinemia]. 61
1700838 1990
23
HTLV-1-associated myelopathy (HAM) with OKT4 epitope deficiency. 61
1695810 1990
24
OKT4 epitope deficiency and symptomatic immune impairment. 61
2475146 1989
25
[Heterogeneity of epitopes of the CD4 molecule in a female patient with idiopathic pulmonary fibrosis]. 61
2482402 1989
26
Binding region for human immunodeficiency virus (HIV) and epitopes for HIV-blocking monoclonal antibodies of the CD4 molecule defined by site-directed mutagenesis. 61
2461565 1988
27
OKT4 epitope deficiency as a cause of reduced "helper" T cells in children at risk for human immunodeficiency virus infection. 61
2968445 1988
28
OKT4 epitope deficiency and acquired immunodeficiency syndrome (AIDS) 61
2447851 1988
29
OKT4 epitope deficiency in a patient with acute myeloblastic leukemia. 61
2960246 1987
30
[A patient with IgD (lambda)-multiple myeloma accompanied by OKT4 epitope deficiency]. 61
2437343 1986
31
Binding of the human retrovirus HTLV-III/LAV/ARV/HIV to the CD4 (T4) molecule: conformation dependence, epitope mapping, antibody inhibition, and potential for idiotypic mimicry. 61
2428879 1986
32
OKT4 epitope deficiency in significant proportions of the black population. A cause for underestimation of helper/suppressor lymphocyte ratios. 61
2425775 1986
33
[OKT4 epitope deficiency--mode of inheritance and prevalence in Japan]. 61
2419601 1985
34
Familial OKT4 epitope deficiency: studies on antigen density and lymphocyte function. 61
2411456 1985
35
Biological functions of T-cell surface glycoproteins. 61
6238748 1983

Variations for Okt4 Epitope Deficiency

ClinVar genetic disease variations for Okt4 Epitope Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD4 NM_000616.5(CD4):c.491del (p.Gln164fs) Deletion Pathogenic 997637 GRCh37: 12:6924042-6924042
GRCh38: 12:6814876-6814876
2 CD4 NM_000616.5(CD4):c.793C>T (p.Arg265Trp) SNV Conflicting interpretations of pathogenicity 29898 rs28919570 GRCh37: 12:6925407-6925407
GRCh38: 12:6816241-6816241
3 CD4 NM_000616.5(CD4):c.799A>G (p.Thr267Ala) SNV Uncertain significance 626076 rs1325448082 GRCh37: 12:6925413-6925413
GRCh38: 12:6816247-6816247

Expression for Okt4 Epitope Deficiency

Search GEO for disease gene expression data for Okt4 Epitope Deficiency.

Pathways for Okt4 Epitope Deficiency

GO Terms for Okt4 Epitope Deficiency

Sources for Okt4 Epitope Deficiency

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
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35 IUPHAR
36 KEGG
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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