Pathology
germline mutations in
- CD3Z-associated primary T-cell immunodeficiency (HP.11159) (MIM.610163)
- CD3Z-associated primary T-cell immunodeficiency (MIM.610163)
See also
TCRs (T-cell antigen receptor complex)
TCR subunits
CD subunits
References
Rieux-Laucat F, Hivroz C, Lim A, Mateo V, Pellier I, Selz F, Fischer A, Le Deist F. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 2006 May 4;354(18):1913-21. PMID: 16672702
Le Deist F, de Saint Basile G, Rieux-Laucat F, Hivroz C, Fischer A. [CD3 complex and immunodeficiencies.] Med Sci (Paris). 2007 Feb;23(2):161-166. In french. PMID: 17291425