A multiinstitutional survey of the Wiskott-Aldrich syndrome

The Journal of Pediatrics - Tập 125 - Trang 876-885 - 1994
Kathleen E. Sullivan, Craig A. Mullen, R.Michael Blaese, Jerry A. Winkelstein

Tài liệu tham khảo

Hastrup, 1965, Wiskott-Aldrich's syndrome, Dan Med Bull, 12, 99 Huntley, 1957, Eczema associated with thrombocytopenic purpura and purulent otitis media, Pediatrics, 19, 351, 10.1542/peds.19.3.351 Krivit, 1959, Aldrich's syndrome (thrombocytopenia, eczema, and infection in infants), AMA J Dis Child, 97, 137, 10.1001/archpedi.1959.02070010139001 Wiskott, 1937, Familiarer, angeborener Morbus Werlhofii?, Monatsschr Kinderheilkd, 68, 212 Aldrich, 1954, Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea, Pediatrics, 13, 133, 10.1542/peds.13.2.133 Cooper, 1968, Wiskott-Aldrich syndrome, Am J Med, 44, 499, 10.1016/0002-9343(68)90051-X Kenney, 1990, Wiskott-Aldrich syndrome and related X-linked thrombocytopenia, Curr Opin Pediatr, 2, 931, 10.1097/00008480-199010000-00014 Peacocke, 1992, Wiskott-Aldrich syndrome: new molecular and biochemical insights, J Am Acad Dermatol, 27, 507, 10.1016/0190-9622(92)70215-2 Wolff, 1967, Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations, J PEDIATR, 70, 221, 10.1016/S0022-3476(67)80417-7 Ochs, 1980, The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes and platelets, Blood, 55, 243, 10.1182/blood.V55.2.243.243 Canales, 1967, Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome, N Engl J Med, 277, 899, 10.1056/NEJM196710262771703 Notarangelo, 1991, Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia, Blood, 77, 1125, 10.1182/blood.V77.5.1125.1125 Puck, 1990, Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation, Blood, 75, 2369, 10.1182/blood.V75.12.2369.2369 Stormorken, 1991, X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome—functional and morphological studies of platelets and lymphocytes, Thromb Haemost, 65, 300, 10.1055/s-0038-1648139 Donner, 1988, Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome, Blood, 72, 1849, 10.1182/blood.V72.6.1849.1849 De Saint-Basile, 1991, X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers, Ann Hematol, 63, 107, 10.1007/BF01707282 Abinun, 1988, Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome, Eur J Pediatr, 147, 518, 10.1007/BF00441979 Hsieh, 1988, Wiskott-Aldrich syndrome and inflammatory bowel disease, Ann Allergy, 60, 429 Meropol, 1992, Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome, Am J Hematol, 40, 126, 10.1002/ajh.2830400210 Standen, 1990, Wiskott-Aldrich syndrome: fatal consequences of splenectomy in an unrecognised attenuated variant, Br J Clin Pract, 44, 338, 10.1111/j.1742-1241.1990.tb10847.x Cheng, 1981, Long-term survival in Wiskott-Aldrich syndrome: case report and literature review, Am J Med Sci, 282, 85, 10.1097/00000441-198109000-00006 Diaz-Buxo, 1974, Wiskott-Aldrich syndrome in an adult, Mayo Clin Proc, 49, 455 St. Geme, 1965, Impaired cellular resistance to herpes simplex virus in Wiskott- Aldrich syndrome, N Engl J Med, 273, 229, 10.1056/NEJM196507292730501 Gerety, 1976, Hepatitis B infection in the Wiskott-Aldrich syndrome, J PEDIATR, 88, 561, 10.1016/S0022-3476(76)80006-6 Filipovich, 1979, Fatal arteritis as a complication of Wiskott-Aldrich syndrome, J PEDIATR, 95, 742, 10.1016/S0022-3476(79)80726-X Ilowite, 1986, Pulmonary angiitis with atypical lymphoreticular infiltrates in Wiskott-Aldrich syndrome: possible relationship of lymphomatoid granulomatosis and EBV infection, Clin Immunol Immunopathol, 41, 479, 10.1016/0090-1229(86)90018-8 McEnery, 1973, Wiskott-Aldrich syndrome associated with idiopathic infantile cortical hyperostosis (Caffey's disease), Arch Dis Child, 48, 818, 10.1136/adc.48.10.818 Takemoto, 1974, Isolation of papovavirus from brain tumor and urine of a patient with Wiskott-Aldrich syndrome, JNCI, 53, 1205, 10.1093/jnci/53.5.1205 Wade, 1985, Progressive varicella in three patients with Wiskott-Aldrich syndrome: treatment with adenine arabinoside, Pediatrics, 75, 672, 10.1542/peds.75.4.672 Watson, 1985, Cutaneous T cell lymphoma and leukocytoclastic vasculitis in a long-term survivor of Wiskott-Aldrich syndrome, Ann Allergy, 55, 654 European Collaborative Study, 1992, Age-related standards for T lymphocyte subsets based on uninfected children born to human immunodeficiency virus-1 infected women, Pediatr Infect Dis J, 11, 1018, 10.1097/00006454-199211120-00006 Jorgensen, 1972, Nonfatal Wiskott-Aldrich syndrome in a 15-year-old boy, Arch Dermatol, 106, 541, 10.1001/archderm.1972.01620130069016 Higgins, 1991, Aberrant O-linked oligosaccharide biosynthesis in lymphocytes and platelets from patients with the Wiskott-Aldrich syndrome, J Biol Chem, 266, 6280, 10.1016/S0021-9258(18)38115-8 Greer, 1989, Altered expression of leucocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect in O-glycosylation, Biochem Cell Biol, 67, 503, 10.1139/o89-081 Holmberg, 1983, A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome, J PEDIATR, 102, 773, 10.1016/S0022-3476(83)80256-X Murphy, 1972, Platelet size and kinetics in hereditary and acquired thrombocytopenia, N Engl J Med, 286, 499, 10.1056/NEJM197203092861001 Corash, 1985, Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome, Blood, 65, 1439, 10.1182/blood.V65.6.1439.bloodjournal6561439 Lum, 1980, Splenectomy in the management of the thrombocytopenia of the Wiskott- Aldrich syndrome, N Engl J Med, 302, 892, 10.1056/NEJM198004173021604 Novogrodsky, 1972, Membrane site modified on induction of the transformation of lymphocytes by periodate, Proc Natl Acad Sci USA, 69, 3207, 10.1073/pnas.69.11.3207 Conley, 1988, Carrier detection in typical and atypical X-linked agammaglobulinemia, J PEDIATR, 112, 694, 10.1016/S0022-3476(88)80683-8 Winkelstein, 1990, Carrier detection of the X-linked primary immunodeficiency diseases using X-chromosome inactivation analysis, J Clin Lab Immunol, 85, 1090, 10.1016/0091-6749(90)90055-9 Imbach, 1981, High-dose intravenous gammaglobulin therapy of refractory, in particular idiopathic thrombocytopenia in childhood, Helv Paediatr Acta, 36, 81 Brochstein, 1991, Marrow transplantation from human leukocyte antigen-identical or haploidentical donors for correction of Wiskott-Aldrich syndrome, J PEDIATR, 119, 907, 10.1016/S0022-3476(05)83041-0 Mullen, 1993, Splenectomy and/or bone marrow transplantation in the management of Wiskott- Aldrich syndrome: long-term follow-up of 62 cases, Blood, 82, 2961, 10.1182/blood.V82.10.2961.2961 Rimm, 1990, Bone marrow transplantation for the Wiskott-Aldrich syndrome: long-term follow-up, Transplantation, 50, 617, 10.1097/00007890-199010000-00018 Rumelhart, 1990, Monoclonal antibody T-cell-depleted HLA-haploidentical bone marrow transplantation for Wiskott-Aldrich syndrome, Blood, 75, 1031, 10.1182/blood.V75.4.1031.1031 Lum, 1980, Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome, N Engl J Med, 302, 892, 10.1056/NEJM198004173021604 Parkman, 1978, Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone marrow transplantation, N Engl J Med, 298, 921, 10.1056/NEJM197804272981701 O'Reilly, 1984, Marrow transplantation for congenital disorders, Semin Hematol, 21, 188 Perry, 1980, The Wiskott- Aldrich syndrome in the United States and Canada (1892- 1979), J PEDIATR, 97, 72, 10.1016/S0022-3476(80)80133-8 Stiehm, 1966, Serum immune globulins in health and disease: a survey, Pediatrics, 37, 715, 10.1542/peds.37.5.715