Immunodeficiency due to defect in CD3-gamma

MedGen UID:: 348318
•Concept ID:: C1861297
•: Disease or Syndrome

Synonym:	Immunodeficiency due to Defect in CD3-Gamma

Gene (location): Gene(s) directly associated with this condition or phenotype.	CD3G (11q23.3)

Recent clinical studies

Diagnosis

Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity.

Tokgoz H, Caliskan U, Keles S, Reisli I, Guiu IS, Morgan NV
Pediatr Allergy Immunol 2013 May;24(3):257-62. doi: 10.1111/pai.12063. PMID: 23590417

Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient.

Thoenes G, Soudais C, le Deist F, Griscelli C, Fischer A, Lisowska-Grospierre B
J Biol Chem 1992 Jan 5;267(1):487-93. PMID: 1370449

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Prognosis

A specific defect in CD3 gamma-chain gene transcription results in loss of T-cell receptor/CD3 expression late after human immunodeficiency virus infection of a CD4+ T-cell line.

Willard-Gallo KE, Van de Keere F, Kettmann R
Proc Natl Acad Sci U S A 1990 Sep;87(17):6713-7. doi: 10.1073/pnas.87.17.6713. PMID: 2144349 Free PMC Article

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Clinical prediction guides

Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease.

Ozgür TT, Asal GT, Cetinkaya D, Orhan D, Kiliç SS, Usta Y, Ozen H, Tezcan I
Pediatr Transplant 2008 Dec;12(8):910-3. Epub 2008 May 11 doi: 10.1111/j.1399-3046.2008.00957.x. PMID: 18482219

Human immunodeficiency virus type 2 produces a defect in CD3-gamma gene transcripts similar to that observed for human immunodeficiency virus type 1.

Segura I, Delmelle-Wibaut C, Janssens M, Cleuter Y, van den Broeke A, Kettmann R, Willard-Gallo KE
J Virol 1999 Jun;73(6):5207-13. doi: 10.1128/JVI.73.6.5207-5213.1999. PMID: 10233990 Free PMC Article

T lymphocyte signalling defects and immunodeficiency due to the lack of CD3 gamma.

Arnaiz-Villena A, Timon M, Rodriguez-Gallego C, Iglesias-Casarrubios P, Pacheco A, Regueiro JR
Immunodeficiency 1993;4(1-4):121-9. PMID: 7909475

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Immunodeficiency due to defect in CD3-gamma

Recent clinical studies

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Prognosis

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