[HTML][HTML] Inherited and Somatic CD3ζ Mutations in a Patient with T-Cell Deficiency
F Rieux-Laucat, C Hivroz, A Lim, V Mateo… - … England Journal of …, 2006 - Mass Medical Soc
F Rieux-Laucat, C Hivroz, A Lim, V Mateo, I Pellier, F Selz, A Fischer, F Le Deist
New England Journal of Medicine, 2006•Mass Medical SocA four-month-old boy with primary immunodeficiency was found to have a homozygous
germ-line mutation of the gene encoding the CD3ζ subunit of the T-cell receptor–CD3
complex. CD3ζ is necessary for the development and function of T cells. Some of the
patient's T cells had low levels of the T-cell receptor–CD3 complex and carried the Q70X
mutation in both alleles of CD3 ζ, whereas other T cells had normal levels of the complex
and bore the Q70X mutation on only one allele of CD3 ζ, plus one of three heterozygous …
germ-line mutation of the gene encoding the CD3ζ subunit of the T-cell receptor–CD3
complex. CD3ζ is necessary for the development and function of T cells. Some of the
patient's T cells had low levels of the T-cell receptor–CD3 complex and carried the Q70X
mutation in both alleles of CD3 ζ, whereas other T cells had normal levels of the complex
and bore the Q70X mutation on only one allele of CD3 ζ, plus one of three heterozygous …
A four-month-old boy with primary immunodeficiency was found to have a homozygous germ-line mutation of the gene encoding the CD3ζ subunit of the T-cell receptor–CD3 complex. CD3ζ is necessary for the development and function of T cells. Some of the patient's T cells had low levels of the T-cell receptor–CD3 complex and carried the Q70X mutation in both alleles of CD3ζ, whereas other T cells had normal levels of the complex and bore the Q70X mutation on only one allele of CD3ζ, plus one of three heterozygous somatic mutations of CD3ζ on the other allele, allowing expression of poorly functional T-cell receptor–CD3 complexes.
The New England Journal Of Medicine