Genesis of progressive T-cell deficiency owing to a single missense mutation in the common gamma chain gene

Scandinavian Journal of Immunology

Volumn 54, Issue 6, 2001, Pages 582-591

  Goldman, A S ^a   Palkowetz, K H ^a   Rudloff, H E ^a   Dallas, D V ^b   Schmalstieg, F C ^a  

^a Division of Neonatology   (United States)

^b University of Texas Medical Branch School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CD45 ANTIGEN; DIPEPTIDYL PEPTIDASE IV; LIPOCORTIN 5; PROPIDIUM IODIDE; T LYMPHOCYTE RECEPTOR; T LYMPHOCYTE RECEPTOR GAMMA CHAIN;

ADOLESCENT; ADULT; AGE DISTRIBUTION; APOPTOSIS; ARTICLE; CELL DEATH; CELL DIVISION; CELL MATURATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE MARKER; GENE REARRANGEMENT; HUMAN; IMMUNE DEFICIENCY; IMMUNOSTIMULATION; LYMPHOCYTE COUNT; LYMPHOCYTE DEPLETION; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; SCHOOL CHILD; SENESCENCE; SEX DIFFERENCE; T LYMPHOCYTE ACTIVATION; TELOMERE; THYMUS FUNCTION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; ANNEXIN A5; APOPTOSIS; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; DNA; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT; LINKAGE (GENETICS); LYMPHOCYTE ACTIVATION; LYMPHOCYTE COUNT; MALE; MUTATION, MISSENSE; NECROSIS; PEDIGREE; PROPIDIUM; RECEPTORS, INTERLEUKIN-7; T-LYMPHOCYTES; TELOMERE; X CHROMOSOME;

EID: 0035707120     PISSN: 03009475     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-3083.2001.01006.x     Document Type: Article

References (55)

1. A novel X-linked combined immunodeficiency disease
2. The primary immunodeficiencies
3. Primary immunodeficiency diseases. Report of a WHO scientific group
4. Primary immunodeficiency diseases due to defects in lymphocytes
5. Postnatal development of T lymphocytes in a novel X-linked immunodeficiency disease
6. Missense mutation in exon 7 of the common γ chain gene causes a moderate form of X-linked combined immunodeficiency
7. Cloning of the γ chain of the human IL-2 receptor
8. Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) γ chain: Chromosomal mapping and tissue specificity of IL-2R γ chain expression
9. Sharing of the interleukin-2 (IL-2) receptor γ chain between receptors for IL-2 and IL-4
10. Interleukin-2 receptor γ chain: A functional component of the interleukin-7 receptor
11. Sharing of the IL-2 receptor gamma chain with the functional IL-9 receptor complex
12. Utilization of the β and γ chains of the IL-2 receptor by the novel cytokine IL-15
13. Interleukin 21 and its receptor are involved in NK cell expansion and regulation of lymphocyte function
14. c chains with Jak1 and Jak3: Implications for XSCID and XCID
15. + peripheral blood T cells in a novel X-linked combined immunodeficiency disease
16. Direct evidence for thymic function in adult humans
17. Human memory T lymphocytes express increased levels of three cell adhesion molecules (LFA-3, CD2, and LFA-1) and three other molecules (UCHL1, CDw29, and Pgp-1) and have enhanced IFN-γ production
18. Changes in CD45 isoform expression accompany antigen-induced murine T-cell activation
19. Interconversion of CD45R subsets of CD4 T cells in vivo
20. T cell receptor signals enhance susceptibility to Fas-mediated apoptosis
21. Interleukin-2 receptor common gamma-chain signaling cytokines regulate activated T-cell apoptosis in response to growth factor withdrawal-selective induction of anti-apoptotic (Bcl-2, Bcl-x (L) but not pro-apoptotic BAX, BCL-X (S) gene expression
22. c-chain deficient mice
23. X-linked severe combined immunodeficiency: From molecular cause to gene therapy within seven years
24. T cells from Jak3-deficient mice have intact TCR signaling, but increased apoptosis
25. IL-7-dependent extrathymic expansion of CD45RA+ T cells enables preservation of a naive repertoire
26. A novel assay for apoptosis. Flow cytometric detection of phosphatidylserine expression on early apoptotic cells using fluorescein labeled annexin V
27. Extended application of flow microfluorometry by means of dual laser excitation
28. Quantitation of target molecules from PCR-based limiting dilution assays
29. Limiting dilution assays for the determination of immunocompetent cell frequencies
30. Analysis of telomerase and telomeres
31. dim mature memory T cells that are potent helpers for B cell differentiation
32. The progressive differentiation of primed T cells is associated with an increasing susceptibility to apoptosis
33. Regulation of L-selectin expression by membrane proximal proteolysis
34. A newly identified response element in the CD95 ligand promoter contributes to optimal inducibility in activated T lymphocytes
35. Changes in thymic function with age and during the treatment of HIV infection
36. Changes in the human thymus during aging
37. The role of zinc in pre- and post-natal mammalian thymic immunohistogenesis
38. Generation of functional thymocytes in the human adult
39. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
40. Role of the common cytokine receptor gamma chain (gamma c) in thymocyte selection
41. Teleomere end-replication problem and cell aging
42. The human telomere terminal transferase is a ribonucleoprotein that synthesizes TTAGGG repeats
43. Evidence for a critical telomere length in senescent human fibroblasts
44. Telomer states and cell fates
45. Regulated expression of telomerase activity in human T lymphocyte development and activation
46. Molecular and cellular events in early thymocyte development
47. Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine
48. Interleukin-7 is a critical growth factor in early human T-cell development
49. c-dependent cytokines and receptors: Regulation of T lymphocyte development and homeostasis
50. Development and function in T cells of mice rendered interleukin-2 deficient by gene targeting
51. Interleukin-2 receptor α chain regulates the size and content of the peripheral lymphoid compartment
52. Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor β
53. Generation and analysis of interleukin-4 deficient mice
54. IL-15 receptor maintains lymphoid homeostasis by supporting lymphocyte homing and proliferation