Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations

Journal of Clinical Investigation

Volumn 109, Issue 11, 2002, Pages 1501-1509

  Orange, Jordan S ^a   Brodeur, Scott R ^a   Jain, Ashish ^b   Bonilla, Francisco A ^a   Schneider, Lynda C ^a   Kretschmer, Roberto ^c   Nurko, Samuel ^a   Rasmussen, Wendy L ^d   Köhler, Julia R ^a   Gellis, Stephen E ^a   Ferguson, Betsy M ^e   Strominger, Jack L ^f   Zonana, Jonathan ^e   Ramesh, Narayanaswamy ^a   Ballas, Zuhair K ^d   Geha, Raif S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c AMERICAN BRITISH COWDRAY MEDICAL CENTER   (Mexico)

^d Veterans Administration   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f HARVARD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; I KAPPA B; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN ESSENTIAL MODIFIER; IMMUNOGLOBULIN KAPPA CHAIN; INTERLEUKIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; B LYMPHOCYTE; CASE REPORT; CYTOTOXICITY; ELECTROPHORETIC MOBILITY; ENZYME ACTIVATION; ENZYME RELEASE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNOPHENOTYPING; INFANT; MALE; NATURAL KILLER CELL; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION; T LYMPHOCYTE; X CHROMOSOME;

EID: 0036259559     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0214858     Document Type: Article

References (39)

1. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia
2. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
3. Mutations in the human homologue of mouse dl cause aurosomal recessive and dominant hypohidrotic ectodermal dysplasia
4. Gene defect in ectodermal dysplasia implicates a death domain adapter in development
5. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
6. Anhidrotic ectodermal dysplasia with transient hypogammaglobulinemia
7. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
8. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
9. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
10. Role of IKKgamma/nemo in assembly of the IkappaB kinase complex
11. The IkappaB kinase (IKK) and NF- kappaB: Key elements of proinflammatory signaling
12. Genomic rearrangement in NEMO impairs NF- kappaB activation and is a cause of incontinentia pigmenti
13. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)
14. Severe herpesvirus infections in an adolescent without natural killer cells
15. A non-x-linked syndrome with susceptibility to severe Epstein-Barr virus infections
16. A patient with simultaneous absence of "classical" natural killer cells (CD3-, CD16+, and NKH1+) and expansion of CD3+, CD4-, CD8-, NKH1+ subset
17. Activating receptors and coreceptors involved in human natural killer cell-mediated cytolysis
18. Signaling for cytotoxicity
19. Pivotal role of phosphoinositide-3 kinase in regulation of cytotoxicity in natural killer cells
20. NK cell-mediated lysis of autologous antigen-presenting cells is triggered by the engagement of the phosphatidylinositol 3-kinase upon ligation of the natural cytotoxicity receptors NKp30 and NKp46
21. Cutting edge: Functional role for proline-rich tyrosine kinase 2 in NK cell-mediated natural cytotoxicity
22. The tyrosine kinase PYK-2/RAFTK regulates natural killer (NK) cell cytotoxic response, and is translocated and activated upon specific target cell recognition and killing
23. Role of JAK3 in CD40-mediated signaling
24. CD40 and IgE: Synergism between anti-CD40 monoclonal antibody and interleukin 4 in the induction of IgE synthesis by highly purified human B cells
25. Glucocorticoids upregulate CD40 ligand expression and induce CD40L-dependent immunoglobulin isotype switching
26. The CD40L promoter contains nucleafactor of activated T cells-binding motifs which require AP-1 binding for activation of transcription
27. Generation of cytotoxic NK cells in peripheral blood and bone marrow of patients with acute myelogenous leukemia after continuous infusion with recombinant interleukin-2
28. IL-2- induced signal transduction involves the activation of nuclear NF-kappaB expression
29. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
30. Pathogenesis of murine cytomegalovirus infection in natural killer cell-depleted mice
31. Distinct organ-dependent mechanisms for the control of murine cytomegalovirus infection by natural killer cells
32. Impaired natural killing of MHC class I-deficient targets by NK cells expressing a catalytically inactive form of SHP-1
33. Natural Killer (NK) cell deficiency associated with an epitope-deficient Fc receptor type IIIA (CD16-II)
34. An absolute and restricted requirement for IL-12 in natural killer cell IFN-gamma production and antiviral defense
35. Effects of metabolic inhibitors on spontaneous and interferon-boosted human natural killer cell activity
36. Cellular redox status influences both cytotoxic and NF-kappaB activation in natural killer cells
37. NF-kappaB activation by tumour necrosis factor requires the Akt serine-threonine kinase
38. IKKalpha controls formation of the epidermis independently of NF-kappaB
39. Activation by IKKalpha of a second, evolutionary conserved, NF-kappaB signaling pathway