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Clinical, immunologic, and genetic characteristics of children with ALPS: A single-center experience.

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  • معلومة اضافية
    • المصدر:
      Publisher: Blackwell Publishing Country of Publication: England NLM ID: 9106718 Publication Model: Print Cited Medium: Internet ISSN: 1399-3038 (Electronic) Linking ISSN: 09056157 NLM ISO Abbreviation: Pediatr Allergy Immunol Subsets: MEDLINE
    • بيانات النشر:
      Publication: <2010->: Oxford, UK : Blackwell Publishing
      Original Publication: Copenhagen : Munksgaard, c1990-
    • الموضوع:
      Lymphoproliferative Disorders* ; Autoimmune Diseases*/genetics; Humans ; Child ; Mutation
    • References:
      Price S, Shaw PA, Seitz A, et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood. 2014;123(13):1989-1999.
      Neven B, Magerus-Chatinet A, Florkin B, et al. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood. 2011;118(18):4798-4807.
      Rieux-Laucat F. What's up in the ALPS. Curr Opin Immunol. 2017;49:79-86.
      Oliveira JB, Bleesing JJ, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH international workshop. Blood. 2010;116(14):35-40.
      Dowdell KC, Niemela JE, Price S, et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood. 2010;115(25):5164-5169.
      Jevtich K, Price S, Similuk M, et al. The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome. Blood Adv. 2022;6(13):3974-3978.
      Sleight BJ, Prasad VS, DeLaat C, et al. Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant. 1998;22(4):375-380.
      Naumann-Bartsch N, Stachel D, Morhart P, Staatz G, Jüngert J, Schwarz K. Childhood polyarteritis nodosa in autoimmune lymphoproliferative syndrome. Pediatrics. 2010;125(1):e169-e173.
      Magerus A, Bercher-Brayer C, Rieux-Laucat F. The genetic landscape of the FAS pathway deficiencies. Biom J. 2021;44(4):388-399.
      Völkl S, Rensing-Ehl A, Allgäuer A, et al. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. Blood. 2016;128(2):227-238.
      Klemann C, Esquivel M, Magerus-Chatinet A, et al. Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. Haematologica. 2017;102(2):e52-e56.
      Neven B, Bruneau J, Stolzenberg MC, et al. Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients. Blood. 2014;124(10):1597-1609.
      Gunawardena N, McCormick M, Liu YC, Ritchey AK. Successful treatment of acute myeloid leukemia and mast cell proliferation in a patient with autoimmune lymphoproliferative syndrome. Pediatr Blood Cancer. 2021;68(8):24-26.
    • Contributed Indexing:
      Keywords: ALPS; FAS; autoimmune lymphoproliferative syndrome; autoimmunity; inborn error of immunity; primary immunodeficiency; splenomegaly
    • الموضوع:
      Date Created: 20230224 Date Completed: 20230227 Latest Revision: 20230302
    • الموضوع:
      20240829
    • الرقم المعرف:
      10.1111/pai.13924
    • الرقم المعرف:
      36825743