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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Mastocytosis

 
 
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Disease relevance of Mastocytosis

 

Psychiatry related information on Mastocytosis

 

High impact information on Mastocytosis

  • Improved diagnosis of mastocytosis by measurement of urinary histamine metabolites [7].
  • These results suggest that collaboration between IL-18-dependent and Th2 cell-dependent mastocytosis is important for prompt parasite expulsion [8].
  • C57BL/6 (B6) and B6 background STAT6(-/-) mice pretreated with IL-18 plus IL-2 showed prominent intestinal mastocytosis and rapidly expelled implanted adult worms of the gastrointestinal nematode Strongyloides venezuelensis [8].
  • These results demonstrate a causal link in vivo between the Asp816Val Kit mutation and MC neoplasia and suggest a basis for the clinical heterogeneity of human mastocytosis [9].
  • Expression of membrane-bound SCF alone resulted in epidermal melanocytosis and melanin production, but did not by itself cause mastocytosis [10].
 

Chemical compound and disease context of Mastocytosis

  • In this report, most mastocytosis patients with systemic disease have B12-measured tryptase levels that are elevated (> 20 ng/ml) and are at least 10-fold greater than the corresponding G5-measured tryptase level [11].
  • We conclude that c-KIT somatic mutations substituting valine in position 816 of KIT are characteristic of sporadic adult mastocytosis and may cause this disease [12].
  • One activating Kit mutation substitutes a valine for aspartic acid at codon 816 (D816V) and is frequently observed in human mastocytosis [13].
  • Although currently available tyrosine kinase inhibitors are effective in the treatment of GISTs, there has been limited success in the treatment of mastocytosis [14].
  • The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations [15].
 

Biological context of Mastocytosis

 

Anatomical context of Mastocytosis

 

Gene context of Mastocytosis

  • Association of the Q576R polymorphism in the interleukin-4 receptor alpha chain with indolent mastocytosis limited to the skin [4].
  • Studies in mice infected with the gastrointestinal nematode parasite Nippostrongylus brasiliensis demonstrated that IL-4/IL-13 activation of Stat6 suppresses development of intestinal mastocytosis and does not contribute to IL-4/IL-13 production, but is still essential for parasite expulsion [25].
  • We introduced the following mutations in NTRK1 tyrosine kinase domain: (i) D668N equivalent to Met D1246N associated to HPRC; (ii) D668V modelled on Kit D816V found in mastocytosis; (iii) M688T corresponding to Ret M918T associated to the cancer syndrome MEN2B [26].
  • In this study we demonstrate that IL-9 is expressed early during the Th2-type response and that its elevation in vivo results in the enhancement of intestinal mastocytosis and the production of both the immunoglobulin E (IgE) and IgG1 isotypes [27].
  • No significant differences in CD63 expression were observed as regards both total and cytoplasmic CD63, except for higher CD63 levels in adult patients with mastocytosis (P = 0.05) [28].
 

Analytical, diagnostic and therapeutic context of Mastocytosis

References

  1. Eotaxin-3 and a uniquely conserved gene-expression profile in eosinophilic esophagitis. Blanchard, C., Wang, N., Stringer, K.F., Mishra, A., Fulkerson, P.C., Abonia, J.P., Jameson, S.C., Kirby, C., Konikoff, M.R., Collins, M.H., Cohen, M.B., Akers, R., Hogan, S.P., Assa'ad, A.H., Putnam, P.E., Aronow, B.J., Rothenberg, M.E. J. Clin. Invest. (2006) [Pubmed]
  2. IL-18 contributes to the spontaneous development of atopic dermatitis-like inflammatory skin lesion independently of IgE/stat6 under specific pathogen-free conditions. Konishi, H., Tsutsui, H., Murakami, T., Yumikura-Futatsugi, S., Yamanaka, K., Tanaka, M., Iwakura, Y., Suzuki, N., Takeda, K., Akira, S., Nakanishi, K., Mizutani, H. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  3. Autoinhibition of the kit receptor tyrosine kinase by the cytosolic juxtamembrane region. Chan, P.M., Ilangumaran, S., La Rose, J., Chakrabartty, A., Rottapel, R. Mol. Cell. Biol. (2003) [Pubmed]
  4. Association of the Q576R polymorphism in the interleukin-4 receptor alpha chain with indolent mastocytosis limited to the skin. Daley, T., Metcalfe, D.D., Akin, C. Blood (2001) [Pubmed]
  5. Necessity of tyrosine 719 and phosphatidylinositol 3'-kinase-mediated signal pathway in constitutive activation and oncogenic potential of c-kit receptor tyrosine kinase with the Asp814Val mutation. Hashimoto, K., Matsumura, I., Tsujimura, T., Kim, D.K., Ogihara, H., Ikeda, H., Ueda, S., Mizuki, M., Sugahara, H., Shibayama, H., Kitamura, Y., Kanakura, Y. Blood (2003) [Pubmed]
  6. Metabolic bone disease associated with systemic disorders. Cormier, C. Current opinion in rheumatology. (1991) [Pubmed]
  7. Improved diagnosis of mastocytosis by measurement of urinary histamine metabolites. Keyzer, J.J., de Monchy, J.G., van Doormaal, J.J., van Voorst Vader, P.C. N. Engl. J. Med. (1983) [Pubmed]
  8. IL-18 with IL-2 protects against Strongyloides venezuelensis infection by activating mucosal mast cell-dependent type 2 innate immunity. Sasaki, Y., Yoshimoto, T., Maruyama, H., Tegoshi, T., Ohta, N., Arizono, N., Nakanishi, K. J. Exp. Med. (2005) [Pubmed]
  9. Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. Zappulla, J.P., Dubreuil, P., Desbois, S., Létard, S., Hamouda, N.B., Daëron, M., Delsol, G., Arock, M., Liblau, R.S. J. Exp. Med. (2005) [Pubmed]
  10. Murine cutaneous mastocytosis and epidermal melanocytosis induced by keratinocyte expression of transgenic stem cell factor. Kunisada, T., Lu, S.Z., Yoshida, H., Nishikawa, S., Nishikawa, S., Mizoguchi, M., Hayashi, S., Tyrrell, L., Williams, D.A., Wang, X., Longley, B.J. J. Exp. Med. (1998) [Pubmed]
  11. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. Schwartz, L.B., Sakai, K., Bradford, T.R., Ren, S., Zweiman, B., Worobec, A.S., Metcalfe, D.D. J. Clin. Invest. (1995) [Pubmed]
  12. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Longley, B.J., Metcalfe, D.D., Tharp, M., Wang, X., Tyrrell, L., Lu, S.Z., Heitjan, D., Ma, Y. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  13. Oncogenic mutation in the Kit receptor tyrosine kinase alters substrate specificity and induces degradation of the protein tyrosine phosphatase SHP-1. Piao, X., Paulson, R., van der Geer, P., Pawson, T., Bernstein, A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  14. 17-Allylamino-17-demethoxygeldanamycin (17-AAG) is effective in down-regulating mutated, constitutively activated KIT protein in human mast cells. Fumo, G., Akin, C., Metcalfe, D.D., Neckers, L. Blood (2004) [Pubmed]
  15. The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. Ma, Y., Zeng, S., Metcalfe, D.D., Akin, C., Dimitrijevic, S., Butterfield, J.H., McMahon, G., Longley, B.J. Blood (2002) [Pubmed]
  16. The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis. Taylor, M.L., Dastych, J., Sehgal, D., Sundstrom, M., Nilsson, G., Akin, C., Mage, R.G., Metcalfe, D.D. Blood (2001) [Pubmed]
  17. Cytogenetic abnormalities and their lack of relationship to the Asp816Val c-kit mutation in the pathogenesis of mastocytosis. Worobec, A.S., Akin, C., Scott, L.M., Metcalfe, D.D. J. Allergy Clin. Immunol. (1998) [Pubmed]
  18. Elevated expression of the proto-oncogene c-kit in patients with mastocytosis. Nagata, H., Worobec, A.S., Semere, T., Metcalfe, D.D. Leukemia (1998) [Pubmed]
  19. A follow-up study of bone marrow chromosomes and in vitro colony growth in patients with mastocytosis. Swolin, B., Rödjer, S., al-Obaidy, A., Jonell, R., Roupe, G. Acta Derm. Venereol. (1994) [Pubmed]
  20. Detection of mi transcription factor (MITF) mRNA in a case of myelodysplastic syndrome and bone marrow mastocytosis. Wimazal, F., Walchshofer, S., Baghestanian, M., Chott, A., Sperr, W.R., Kopp, C., Sillaber, C., Semper, H., Horny, H.P., Tröndle, U., Födinger, M., Schwarzinger, I., Lechner, K., Valent, P. Wien. Klin. Wochenschr. (1998) [Pubmed]
  21. Intraepithelial infiltration by mast cells with both connective tissue-type and mucosal-type characteristics in gut, trachea, and kidneys of IL-9 transgenic mice. Godfraind, C., Louahed, J., Faulkner, H., Vink, A., Warnier, G., Grencis, R., Renauld, J.C. J. Immunol. (1998) [Pubmed]
  22. Induction of enhanced immunity to intestinal nematodes using IL-9-producing dendritic cells. Leech, M.D., Grencis, R.K. J. Immunol. (2006) [Pubmed]
  23. Immunohistochemical detection of histidine decarboxylase in neoplastic mast cells in patients with systemic mastocytosis. Krauth, M.T., Agis, H., Aichberger, K.J., Simonitsch-Klupp, I., Müllauer, L., Mayerhofer, M., Böhm, A., Horny, H.P., Valent, P. Hum. Pathol. (2006) [Pubmed]
  24. The cysteinyl leukotriene D4 receptor antagonist montelukast for the treatment of interstitial cystitis. Bouchelouche, K., Nordling, J., Hald, T., Bouchelouche, P. J. Urol. (2001) [Pubmed]
  25. Stat6 signaling promotes protective immunity against Trichinella spiralis through a mast cell- and T cell-dependent mechanism. Urban, J.F., Schopf, L., Morris, S.C., Orekhova, T., Madden, K.B., Betts, C.J., Gamble, H.R., Byrd, C., Donaldson, D., Else, K., Finkelman, F.D. J. Immunol. (2000) [Pubmed]
  26. Gain of function mutations of RTK conserved residues display differential effects on NTRK1 kinase activity. Miranda, C., Zanotti, G., Pagliardini, S., Ponzetto, C., Pierotti, M.A., Greco, A. Oncogene (2002) [Pubmed]
  27. Interleukin-9 enhances resistance to the intestinal nematode Trichuris muris. Faulkner, H., Renauld, J.C., Van Snick, J., Grencis, R.K. Infect. Immun. (1998) [Pubmed]
  28. Human bone marrow mast cells from indolent systemic mast cell disease constitutively express increased amounts of the CD63 protein on their surface. Escribano, L., Orfao, A., Díaz Agustín, B., Cerveró, C., Herrero, S., Villarrubia, J., Bravo, P., Torrelo, A., Montero, T., Valdemoro, M., Velasco, J.L., Navarro, J.L., San Miguel, J.F. Cytometry. (1998) [Pubmed]
  29. Patients still reacting to a sting challenge while receiving conventional Hymenoptera venom immunotherapy are protected by increased venom doses. Ruëff, F., Wenderoth, A., Przybilla, B. J. Allergy Clin. Immunol. (2001) [Pubmed]
  30. The immunoglobulin E- and calcium-dependent release of histamine and eicosanoids from human dispersed mastocytosis spleen cells. Robinson, C., Benyon, R.C., Agius, R.M., Jones, D.B., Wright, D.H., Holgate, S.T. J. Invest. Dermatol. (1988) [Pubmed]
  31. Association of transient dermal mastocytosis and elevated plasma tryptase levels with development of adverse reactions after treatment of onchocerciasis with ivermectin. Cooper, P.J., Schwartz, L.B., Irani, A.M., Awadzi, K., Guderian, R.H., Nutman, T.B. J. Infect. Dis. (2002) [Pubmed]
  32. Microdialysis of histamine in the skin of patients with mastocytosis. Krogstad, A.L., Roupe, G. Exp. Dermatol. (2001) [Pubmed]
 
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