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Previous Volume 354:1913-1921 May 4, 2006 Number 18 Next

Inherited and Somatic CD3 Mutations in a Patient with T-Cell Deficiency

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SUMMARY

A four-month-old boy with primary immunodeficiency was found to have a homozygous germ-line mutation of the gene encoding the CD3 subunit of the T-cell receptor–CD3 complex. CD3 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, whereas other T cells had normal levels of the complex and bore the Q70X mutation on only one allele of CD3, plus one of three heterozygous somatic mutations of CD3 on the other allele, allowing expression of poorly functional T-cell receptor–CD3 complexes.

Source Information

From INSERM Unité 768 (F.R.-L., V.M., F.S., A.F.); Faculté de Médecine (F.R.-L., V.M., F.S., A.F.) and Unité d'Immunologie Hématologie Pédiatrique (I.P., A.F.), Université de Paris René Descartes; Hôpital Necker (F.R.-L., V.M., F.S., A.F.); INSERM Unité 520 and Institut Curie (C.H.); and INSERM Unité 668 and Unité d'Immunité Anti-virale, Biothérapies et Vaccin, Institut Pasteur (A.L.) — all in Paris; and Département de Microbiologie et d'Immunologie, Centre Hospitalier Universitaire Sainte-Justine, Montreal (F.L.D.).

Address reprint requests to Dr. Rieux-Laucat at INSERM Unité 768, Hôpital Necker, 149, rue de Sèvres, 75015 Paris, France, or at rieux{at}necker.fr.

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