Familial CD8 deficiency due to a mutation in the CD8α gene

Journal of Clinical Investigation

Volumn 108, Issue 1, 2001, Pages 117-123

  De la Calle Martin, O ^a   Hernandez, M ^a   Ordi, J ^a   Casamitjana, N ^a   Arostegui, J I ^a   Caragol, I ^a   Ferrando, M ^a   Labrador, M ^a   Rodriguez Sanchez, J L ^a   Espanol, T ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CD8 ANTIGEN;

ADULT; ARTICLE; BACTERIAL INFECTION; CASE REPORT; CONSANGUINEOUS MARRIAGE; CORRELATION FUNCTION; FAMILIAL DISEASE; GENE MUTATION; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RECURRENT INFECTION;

EID: 0034932953     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI10993     Document Type: Article

References (45)

1. Antigen recognition by class I-restricted T lymphocytes
2. MHC-restricted cytotoxic T cells: Studies on the biological role of polymorphic major transplantation antigens determining T cell restriction-specificity function and responsiveness
3. Role of the major histocompatibility complex class I antigens in tumor growth and metastasis
4. Effector mechanisms in allograft rejection
5. The T cell receptor as a multicomponent signalling machine: CD4/CD8 coreceptors and CD45 in T cell activation
6. The CD8 coreceptor revisited: One chain good, two chains better
7. CD8 lineage commitment in the absence of CD8
8. Description of an ectodermic TCR coreceptor, CD8α, in rainbow trout
9. Crystal structure of the complex between human CD8αα and HLA-A2
10. A binding site for the T-cell receptor CD8 on the alpha 3 domain of HLA-A2
11. Mutations in CD8 that affect interactions with HLA class I and monoclonal anti-CD8 antibodies
12. Interaction between CD8 and major histocompatibility complex (MHC) class I mediated by multiple contact surfaces that include the α2 and α3 domains of MHC class I
13. Interaction of the unique N-terminal region of tyrosine kinase p56lck with cytoplasmic domains of CD4 and CD8 is mediated by cystein motifs
14. Association of CD8 with p56lck is required for early T cell signalling events
15. The CD4 and CD8 T cell surface antigens are associated with the internal membrane tyrosine-protein kinase p56lck
16. CD4 and CD8: Modulators of T-cell receptor recognition of antigen and of immune responses?
17. CD8 is needed for development of cytotoxic T cells but not helper T cells
18. Requirement for CD8β chain in positive selection of CD8-lineage T cells
19. The lack of CD8α cytoplasmic domain resulted in a dramatic decrease in efficiency in thymic maturation but only a moderate reduction in cytotoxic function of CD8+ T lymphocytes
20. Immune response against lymphocytic choriomeningitis virus infection in mice without CD8 expression
21. Effective and long-lasting immunity against the parasite Leishmania major in CD8-deficient mice
22. Protection by CD4 or CD8 T cells against pulmonary Mycobacterium bovis bacillus Calmette-Guerin infection
23. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency
24. Homozygous human TAP peptide transporter mutation in HLA class I deficiency
25. HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1
26. Induction and measurement of cytotoxic T lymphocyte activity
27. The isolation and sequence of the gene encoding T8: A molecule defining functional classes of T lymphocytes
28. Structure and expression of the gene encoding CD8α chain (Leu-2/T8)
29. Srα promoter: An efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat
30. Faces and phases of human CD8+ T-cell development
31. Expression of different CD8 isoforms on distinct human lymphocyte subpopulations
32. Differential expression and regulation of the human CD8α and CD8β chains
33. Peptide-induced positive selection of TCR transgenic thymocytes in a coreceptor-independent manner
34. T cell development in CD8-/- mice: Thymic positive selection is biased toward the helper phenotype
35. Lck activity controls CD4/CD8 T cell lineage commitment
36. The duration of antigen receptor signalling determines CD4+ versus CD8+ T-cell lineage fate
37. Highly efficient selection of CD4 and CD8 lineage thymocytes supports an instructive model of lineage commitment
38. A novel mutation (Cys145→Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male
39. Chronic granulomatous disease presenting in a 69-year-old male
40. Adenosin deaminase deficiency in adults
41. Brief report: Primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor
42. Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family
43. Clinical, immunological and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis
44. Host defense molecule polymorphisms influences the risk for immune-mediated complications in chronic granulomatous disease