Okt4 epitope deficiency(OKT4D)

MedGen UID:: 462729
•Concept ID:: C3151379
•: Disease or Syndrome

Synonym:	T4 EPITOPE DEFICIENCY

Gene (location): Gene(s) directly associated with this condition or phenotype.	CD4 (12p13.31)

Monarch Initiative:	MONDO:0013497
OMIM®:	613949

Clinical features

From HPO

Abnormal T cell morphology

MedGen UID:: 343416
•Concept ID:: C1855752
•: Finding

An abnormality of T cells.

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Abnormality of the immune system
- Abnormal T cell morphology

Recent clinical studies

Etiology

Flow cytometry analysis of OKT4 epitope deficiency in South African black children.

Hughes EJ, Goddard EA, Bouic P, Beatty DW
Clin Exp Immunol 1994 Dec;98(3):526-31. doi: 10.1111/j.1365-2249.1994.tb05523.x. PMID: 7527746 Free PMC Article

OKT4 epitope deficiency as a cause of reduced "helper" T cells in children at risk for human immunodeficiency virus infection.

Levy DS, Church JA, Richards W
J Pediatr 1988 Jul;113(1 Pt 1):79-82. doi: 10.1016/s0022-3476(88)80534-1. PMID: 2968445

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Diagnosis

OKT4 epitope deficiency in significant proportions of the black population. A cause for underestimation of helper/suppressor lymphocyte ratios.

Casey TT, Posey DH, McCurley TL
Arch Pathol Lab Med 1986 Aug;110(8):702-4. PMID: 2425775

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Therapy

Primary Sjögren's syndrome and psoriasis vulgaris in a case of OKT4 epitope deficiency.

Tanaka H, Mizutani H, Okada H, Shimizu M
J Dermatol 1995 Apr;22(4):262-6. doi: 10.1111/j.1346-8138.1995.tb03383.x. PMID: 7541811

Autosomal codominant inheritance and Japanese incidence of deficiency of OKT4 epitope with lack of reactivity resulting from conformational change.

Takenaka T, Kuribayashi K, Nakamine H, Yoshikawa F, Maeda J, Kishi S, Nakauchi H, Minatogawa Y, Kido R
J Immunol 1993 Sep 1;151(5):2864-70. PMID: 7689618

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Prognosis

Primary Sjögren's syndrome and psoriasis vulgaris in a case of OKT4 epitope deficiency.

Tanaka H, Mizutani H, Okada H, Shimizu M
J Dermatol 1995 Apr;22(4):262-6. doi: 10.1111/j.1346-8138.1995.tb03383.x. PMID: 7541811

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Okt4 epitope deficiency(OKT4D)

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

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