Skin infiltration of CD56bright CD16- natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations

European Journal of Haematology

Volumn 79, Issue 1, 2007, Pages 81-85

  Shibata, Fumie ^a   Toma, Tomoko ^a   Wada, Taizo ^a   Inoue, Masayuki ^a   Tone, Yumi ^a   Ohta, Kazuhide ^a   Kasahara, Yoshihito ^a   Sano, Fumie ^b   Kimura, Mitsuaki ^b   Ikeno, Mitsuru ^c   Koizumi, Shoichi ^a   Yachie, Akihiro ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^c JUNTENDO UNIVERSITY SHIZUOKA HOSPITAL   (Japan)

Author keywords

Common chain; NK cell; Omenn syndrome; Severe combined immunodeficiency

Indexed keywords

CD16 ANTIGEN; CD56 ANTIGEN; INTERLEUKIN 2; INTERLEUKIN 2 RECEPTOR GAMMA; MESSENGER RNA; T6 ANTIGEN;

ANTIGEN EXPRESSION; ARTICLE; B LYMPHOCYTE; CASE REPORT; CELL ACTIVATION; CELL CONTACT; CELL DIFFERENTIATION; CELL INFILTRATION; COMBINED IMMUNODEFICIENCY; DENDRITIC CELL; DERMIS; ERYTHRODERMA; EXON; FEMALE; GENE; HUMAN; HUMAN CELL; IN VIVO STUDY; MISSENSE MUTATION; NATURAL KILLER CELL; OMENN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SKIN DEFECT; SKIN INFILTRATE; T LYMPHOCYTE;

ANTIGENS, CD56; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; KILLER CELLS, NATURAL; MALE; PEDIGREE; RECEPTORS, IGG; SEVERE COMBINED IMMUNODEFICIENCY; SYNDROME;

EID: 34347230543     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2007.00874.x     Document Type: Article

References (25)

1. Kovanen PE, Leonard WJ. Cytokines and immunodeficiency diseases: critical roles of the γc-dependent cytokines interleukins 2, 4, 7, 9, 15, and their signaling pathways. Immunol Rev 2004 202 : 67 83.
2. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 2004 22 : 625 55.
3. Müller SM, Ege M, Pottharst A, Schulz AS, Schwarz K, Friedrich W. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency. Blood 2001 98 : 1847 51.
4. DiSanto JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, de Saint Baseile G. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci USA 1994 91 : 9466 70.
5. Sottini A, Quiros-Roldan E, Notarangelo LD, Malagoli A, Primi D, Imberti L. Engrafted maternal T cells in a severe combined immunodeficiency patient express T-cell receptor variable beta segments characterized by a restricted V-D-J junctional diversity. Blood 1995 85 : 2105 13.
6. Niida Y, Stemmer-Rachamimov AO, Logrip M, et al. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet 2001 69 : 493 503.
7. Peral B, Ward CJ, San Millan JL, Thomas S, Stallings RL, Moreno F, Harris PC. Evidence of linkage disequilibrium in the Spanish polycystic kidney disease 1 population. Am J Hum Genet 1994 54 : 899 908.
8. Denianke KS, Frieden IJ, Cowan MJ, Williams ML, McCalmont TH. Cutaneous manifestations of maternal engraftment in patients with severe combined immunodeficiency: a clinicopathologic study. Bone Marrow Transplant 2001 28 : 227 33.
9. Ege M, Ma Y, Manfras B, et al. Omenn syndrome due to ARTEMIS mutations. Blood 2005 105 : 4179 86.
10. Wada T, Schuman SH, Otsu M, et al. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc Natl Acad Sci USA 2001 98 : 8697 702.
11. Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J Med Genet 2003 40 : 721 8.
12. Wada T, Toma T, Okamoto H, et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood 2005 106 : 2099 101.
13. Ginn SL, Smyth C, Wong M, Bennetts B, Rowe PB, Alexander IE. A Novel splice-site mutation in the common gamma chain (γc) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype. Hum Mutation 2004 23 : 522 3.
14. Borg C, Jalil A, Laderach D, et al. NK cell activation by dendritic cells (DCs) requires the formation of a synapse leading to IL-12 polarization in DCs. Blood 2004 104 : 3267 75.
15. Walzer T, Dalod M, Robbins SH, Zitvogel L, Vivier E. Natural-killer cells and dendritic cells: "l'union fait la force". Blood 2005 106 : 2252 8.
16. Marcenaro E, Ferranti B, Moretta A. NK-DC interaction: on the usefulness of auto-aggression. Autoimmunity Rev 2005 4 : 520 5.
17. Münz C, Dao T, Feriazzo G, de Cos MA, Goodman K, Young JW. Mature myeloid dendritic cell subsets have distinct roles for activation and viability of circulating human natural killer cells. Blood 2005 105 : 266 73.
18. Hanabuchi S, Watanabe N, Wang YH, et al. Human plasmacytoid predendritic cells activate NK cells through glucocorticoid-induced tumor necrosis factor receptor-ligand (GITRL). Blood 2006 107 : 3617 23.
19. Romagnani C, Chiesa MD, Kohler S, et al. Activation of human NK cells by plasmacytoid dendritic cells and its modulation by CD4+ T helper cells and CD4+ CD25high T regulatory cells. Eur J Immunol 2005 35 : 2452 8.
20. Dietl J, Hönig A, Kammerer U, Rieger L. Natural killer cells and dendritic cells at the human feto-maternal interface: an effective cooperation? Placenta 2006 27 : 341 7.
21. Chamian F, Lowes MA, Lin S-L, et al. Alefacept reduces infiltrating T cells, activated dendritic cells, and inflammatory genes in psoriasis vulgaris. Proc Natl Acad Sci USA 2005 102 : 2075 80.
22. Novak N, Bieber T. The role of dendritic cell subtypes in the pathophysiology of atopic dermatitis. J Am Acad Dermatol 2005 53 : S171 6.
23. Kumaki S, Ishii N, Minegishi M, et al. Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). Hum Genet 2000 107 : 406 8.
24. Jones AM, Clark PA, Katz F, et al. B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation. Hum Genet 1997 99 : 677 80.
25. Mella P, Imberti L, Brugnoni D, et al. Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization. Clin Immunol 2000 95 : 39 50.