title: Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency.
abstract: A four-month-old boy with primary immunodeficiency was found to have a homozygous germ-line mutation of the gene encoding the CD3zeta subunit of the T-cell receptor-CD3 complex. CD3zeta 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 CD3zeta, whereas other T cells had normal levels of the complex and bore the Q70X mutation on only one allele of CD3zeta, plus one of three heterozygous somatic mutations of CD3zeta on the other allele, allowing expression of poorly functional T-cell receptor-CD3 complexes.
authors: INSERM Unité 768, Hôpital Necker, Paris, France. rieux@necker.fr
authors: Frédéric
authors: F
authors: Rieux-Laucat
authors: Claire
authors: C
authors: Hivroz
authors: Annick
authors: A
authors: Lim
authors: Véronique
authors: V
authors: Mateo
authors: Isabelle
authors: I
authors: Pellier
authors: Françoise
authors: F
authors: Selz
authors: Alain
authors: A
authors: Fischer
authors: Françoise
authors: F
authors: Le Deist