T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.
Roberts JL, Lauritsen JP, Cooney M, Parrott RE, Sajaroff EO, Win CM, Keller MD, Carpenter JH, Carabana J, Krangel MS, Sarzotti M, Zhong XP, Wiest DL, Buckley RH Blood 2007(8): 3198-206
[PubMed abstract].
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Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency.
Rieux-Laucat F, Hivroz C, Lim A, Mateo V, Pellier I, Selz F, Fischer A, Le Deist F N Engl J Med 2006(18): 1913-21
[PubMed abstract].