(Q55784057)

English

Okt4 Epitope deficiency

human disease

T4 Epitope Deficiency
OKT4 EPITOPE DEFICIENCY

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Unusual phenotypes of human inducer T cells as measured by OKT4 and related monoclonal antibodies

subclass of

genetic disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Humans with OKT4-epitope deficiency have a single nucleotide base change in the CD4 gene, resulting in substitution of TRP240 for ARG240.

stated in

A single amino acid substitution in a common African allele of the CD4 molecule ablates binding of the monoclonal antibody, OKT4.

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013497

(Q55784057)

Okt4 Epitope deficiency

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