A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ- Tγδ +B +NK + human SCID

Journal of Clinical Investigation

Volumn 121, Issue 10, 2011, Pages 3872-3876

  Gil, Juana ^a   Busto, Elena M ^b   Garcillán, Beatriz ^b   Chean, Carmen ^a   García Rodríguez, Maria Cruz ^c   Díaz Alderete, Andrea ^a   Navarro, Joaquín ^a   Reiné, Jesús ^b   Mencía, Angeles ^d   Gurbindo, Dolores ^a   Beléndez, Cristina ^a   Gordillo, Isabel ^a   Duchniewicz, Marlena ^e   Höhne, Kerstin ^e   García Sánchez, Félix ^f   Fernández Cruz, Eduardo ^a   López Granados, Eduardo ^c   Schamel, Wolfgang W A ^e   Moreno Pelayo, Miguel A ^d   Recio, María J ^b   Regueiro, José R ^b   more..

^a HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^b UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e UNIVERSITY OF FREIBURG   (Germany)

^f Blood Transfusion Centre   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; T LYMPHOCYTE RECEPTOR;

ARTICLE; CASE REPORT; CD3D GENE; GENE; GENE MUTATION; HUMAN; LYMPHOCYTE DEPLETION; LYMPHOCYTE DIFFERENTIATION; MALE; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; SIGNAL TRANSDUCTION; T LYMPHOCYTE;

ANIMALS; ANTIGENS, CD3; B-LYMPHOCYTES; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; KILLER CELLS, NATURAL; MALE; MICE; MUTATION; PEDIGREE; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; RECEPTORS, ANTIGEN, T-CELL, GAMMA-DELTA; RNA SPLICE SITES; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTE SUBSETS;

EID: 80053392329     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI44254     Document Type: Article

References (16)

1. Weiss A, Littman DR. Signal transduction by lymphocyte antigen receptors. Cell. 1994;76(2):263-274. (Pubitemid 24046689)
2. Notarangelo LD, et al. Primary immunodeficiencies: 2009 update The International Union of Immunological Societies (IUIS) Primary Immunodeficiencies (PID) Expert Committee. J Allergy Clin Immunol. 2009;124(6):1161-1178.
3. Morgan NV, et al. Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells. J Clin Invest. 2011;121(2):695-702.
4. Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med. 2003;349(19):1821-1828. (Pubitemid 37362958)
5. De Saint Basile G, et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest. 2004;114(10):1512-1517. (Pubitemid 40385581)
6. Siegers GM, et al. Different composition of the human and the mouse gammadelta T cell receptor explains different phenotypes of CD3gamma and CD3delta immunodeficiencies. J Exp Med. 2007;204(11):2537-2544. (Pubitemid 350044779)
7. + severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. Blood. 2007;109(8):3198-3206.
8. Wada T, et al. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. Blood. 2008;112(5):1872-1875.
9. Ehl S, et al. A variant of SCID with specific immune responses and predominance of γδ T cells. J Clin Invest. 2005;115(11):3140-3148. (Pubitemid 41567578)
10. Enders A, et al. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol. 2006;176(8):5060-5068.
11. Alibaud L, Arnaud J, Llobera R, Rubin B. On the role of CD3d chains in TCRgd/CD3 complexes during assembly and membrane expression. Scand J Immunol. 2001;54(1-2):155-162. (Pubitemid 32592341)
12. Ozcan E, Notarangelo LD, Geha RS. Primary immune deficiencies with aberrant IgE production. J Allergy Clin Immunol. 2008;122(6):1054-1062.
13. Liston A, Enders A, Siggs OM. Unravelling the association of partial T-cell immunodeficiency and immune dysregulation. Nat Rev Immunol. 2008;8(7):545-558. (Pubitemid 351913676)
14. Dave VP, et al. CD3δ deficiency arrests development of the αβ but not the γδ T cell lineage. EMBO J. 1997;16(6):1360-1370. (Pubitemid 27136101)
15. Yamasaki S, Saito T. Molecular basis for pre-TCR-mediated autonomous signaling. Trends Immunol. 2007;28(1):39-43. (Pubitemid 46001618)
16. Bäckström BT, Müller U, Hausmann B, Palmer E. Positive selection through a motif in the alphabeta T cell receptor. Science. 1998;281(5378):835-838. (Pubitemid 28376046)