Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2018; 17: 97-102
Семейный случай легкого течения синдрома Вискотта-Олдрича
https://doi.org/10.24287/1726-1708-2018-17-1-97-102Аннотация
Список литературы
1. Derry J.M., Ochs H.D., Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994;78:635-44.
2. Silvin C., Belisle B., Abo A. A role for Wiskott- Aldrich syndrome protein in T-cell receptor-mediated transcriptional activation independent of actin polymerization. J Biol Chem 2001; 276: 21450-7.
3. Blundell M.P., Worth A., Bouma G., Thrasher A.J. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function. Disease Markers 2010; 29 (3-4): 157-75.
4. Shcherbina A., Rosen F.S., Remold-O’Donnell E. Pathological events in platelets of Wiskott-Aldrich syndrome patients. Br J Hematol 1999; 106: 875-83.
5. Snapper S.B., Rosen F.S. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annual Reviews in Immunology, 1999; 17: 907-31.
6. Sullivan K.E., Mullen C.A., Blaese R.M., Winkelstein J.A. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994; 125: 876-85.
7. Imai K., Morio T., Zhu Y., et al. Clinical course of patients with WASP gene mutations. Blood 2004; 103: 456-64.
8. Schurman S.H., Candotti F. Autoimmunity in Wiskott-Aldrich syndrome. Current Opinion in Rheumatology 2003; 15 (4): 446-53.
9. Zhu Q., Watanabe C., Liu T., et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997; 90: 2680-9.
10. Zhu Q., Zhang M., Blaese R.M., Derry J.M., Junker A., Francke U., Chen S.H., Ochs H.D. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 1995; 86 (10): 3797-804.
11. Moratto D., Giliani S., Bonfim C., et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood 2011; 118 (6): 1675-84.
12. Worth A.J.J, Thrasher A.J. Current and emerging treatment options for Wiskott-Aldrich syndrome Expert Rev. Clin Immunol 2015; 33 (8): 118-22.
13. Braun C.J., Boztug K., Paruzynski A., et al. Gene therapy for Wiskott-Aldrich syndrome - long-term efficacy and genotoxicity. Sci Transl Med 2014; 6 (227): 227-33.
14. Wiskott A. Familiärer. angeborener morbus Werlhofii: Monatschrift Kinderheil 1936; 68, 212-6.
15. Gerrits A.J., Leven E.A., Frelinger A.L., et al. Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood 2015; 126 (11): 1367-78.
16. Bousfiha A., Jeddane L., Al-Herz W., Ailal F., Casanova J.L., Chatila T., Conley M.E., et al. Tang ML The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 2015; 35 (8): 727-38.
17. Notarangelo L.D., Mazza C., Giliani S., D'Aria C., Gandellini F., Ravelli C., Locatelli M.G., et al. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood 2002; 99 (6): 2268-9.
18. Devriendt K., Kim A.S., Mathijs G., Frints S.G., Schwartz M., Van Den Oord J.J., Verhoef G.E., et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nature Genetics 2001; 27: 313.
19. Joshi A.Y., Iyer V.N., Hagan J.B., Sauver J.L.S., Boyce T.G. Incidence and Temporal Trends of Primary Immunodeficiency: A Population-Based Cohort Study. Mayo Clinic Proceedings 2009; 84 (1): 16-22.
20. Imai K., Nonoyama S., Ochs H.D. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 2003; 3: 427-36.
21. Jin Y., Mazza C., Christie J.R., et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 2004; 104: 4010-19.
22. Shcherbina A., Rosen F.S., Remold-O’Donnell E. WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome patients correlate with cell dysfunction. J Immunol 1999; 163: 6314-20.
23. Луцкий М.И., Ремолд-О'Доннелл А., Румянцев А.Г., Щербина А.Ю. Кор-реляция клинических и молекулярно-генетических дефектов при синдроме Вискотта-Олдрича. Russian Journal of Immunology 2001; 6 (3): 257-64.
Pediatric Hematology/Oncology and Immunopathology. 2018; 17: 97-102
Description of the familial case of Wiskott–Aldrich syndrome with mild phenotype
https://doi.org/10.24287/1726-1708-2018-17-1-97-102Abstract
Wiskott–Aldrich syndrome (WAS) is a Х-linked combined immunodeficiency, characterized by thrombocytopenia, eczema, infections and predisposition to autoimmunity and tumors. The severity of the disease correlates with localization of the mutations in the WAS gene. In the most cases WAS is lethal during the first years of life, except of rare patients with the milder XLT. HSCT is a curative option for the majority of patients with WAS. In some cases conservative management is possible. This article presents a family case of the milder form of Wiskott–Aldrich syndrome.14 y.o. patient's condition is described in details.
References
1. Derry J.M., Ochs H.D., Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994;78:635-44.
2. Silvin C., Belisle B., Abo A. A role for Wiskott- Aldrich syndrome protein in T-cell receptor-mediated transcriptional activation independent of actin polymerization. J Biol Chem 2001; 276: 21450-7.
3. Blundell M.P., Worth A., Bouma G., Thrasher A.J. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function. Disease Markers 2010; 29 (3-4): 157-75.
4. Shcherbina A., Rosen F.S., Remold-O’Donnell E. Pathological events in platelets of Wiskott-Aldrich syndrome patients. Br J Hematol 1999; 106: 875-83.
5. Snapper S.B., Rosen F.S. The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. Annual Reviews in Immunology, 1999; 17: 907-31.
6. Sullivan K.E., Mullen C.A., Blaese R.M., Winkelstein J.A. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994; 125: 876-85.
7. Imai K., Morio T., Zhu Y., et al. Clinical course of patients with WASP gene mutations. Blood 2004; 103: 456-64.
8. Schurman S.H., Candotti F. Autoimmunity in Wiskott-Aldrich syndrome. Current Opinion in Rheumatology 2003; 15 (4): 446-53.
9. Zhu Q., Watanabe C., Liu T., et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997; 90: 2680-9.
10. Zhu Q., Zhang M., Blaese R.M., Derry J.M., Junker A., Francke U., Chen S.H., Ochs H.D. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 1995; 86 (10): 3797-804.
11. Moratto D., Giliani S., Bonfim C., et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood 2011; 118 (6): 1675-84.
12. Worth A.J.J, Thrasher A.J. Current and emerging treatment options for Wiskott-Aldrich syndrome Expert Rev. Clin Immunol 2015; 33 (8): 118-22.
13. Braun C.J., Boztug K., Paruzynski A., et al. Gene therapy for Wiskott-Aldrich syndrome - long-term efficacy and genotoxicity. Sci Transl Med 2014; 6 (227): 227-33.
14. Wiskott A. Familiärer. angeborener morbus Werlhofii: Monatschrift Kinderheil 1936; 68, 212-6.
15. Gerrits A.J., Leven E.A., Frelinger A.L., et al. Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood 2015; 126 (11): 1367-78.
16. Bousfiha A., Jeddane L., Al-Herz W., Ailal F., Casanova J.L., Chatila T., Conley M.E., et al. Tang ML The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 2015; 35 (8): 727-38.
17. Notarangelo L.D., Mazza C., Giliani S., D'Aria C., Gandellini F., Ravelli C., Locatelli M.G., et al. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood 2002; 99 (6): 2268-9.
18. Devriendt K., Kim A.S., Mathijs G., Frints S.G., Schwartz M., Van Den Oord J.J., Verhoef G.E., et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nature Genetics 2001; 27: 313.
19. Joshi A.Y., Iyer V.N., Hagan J.B., Sauver J.L.S., Boyce T.G. Incidence and Temporal Trends of Primary Immunodeficiency: A Population-Based Cohort Study. Mayo Clinic Proceedings 2009; 84 (1): 16-22.
20. Imai K., Nonoyama S., Ochs H.D. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 2003; 3: 427-36.
21. Jin Y., Mazza C., Christie J.R., et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 2004; 104: 4010-19.
22. Shcherbina A., Rosen F.S., Remold-O’Donnell E. WASP levels in platelets and lymphocytes of Wiskott-Aldrich syndrome patients correlate with cell dysfunction. J Immunol 1999; 163: 6314-20.
23. Lutskii M.I., Remold-O'Donnell A., Rumyantsev A.G., Shcherbina A.Yu. Kor-relyatsiya klinicheskikh i molekulyarno-geneticheskikh defektov pri sindrome Viskotta-Oldricha. Russian Journal of Immunology 2001; 6 (3): 257-64.
