Proteus syndrome: evaluation of the immunological profile

被引：0
作者：
Vassilios Lougaris
Vincenzo Salpietro
Maricia Cutrupi
Manuela Baronio
Daniele Moratto
M. R. Pizzino
Kshitij Mankad
Silvana Briuglia
Carmelo Salpietro
Alessandro Plebani
机构：
[1] University of Brescia,Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences
[2] University of Messina,Department of Pediatrics, Unit of Pediatric Genetics and Immunology
[3] University of Brescia,Institute for Molecular Medicine A. Nocivelli, and Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine
[4] Great Ormond Street Hospital for Children National Health Service Foundation Trust,Department of Radiology
来源：
Orphanet Journal of Rare Diseases | / 11卷
关键词：
Proteus syndrome; Overgrowth; B cells; T cells;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse.
引用
收藏
相关论文
共 35 条
  • [1] Cohen MM(1979)A newly recognized hamartomatous syndrome Birth Defects Orig Artic Ser 15 291-6
  • [2] Hayden PW(1976)Macrodactyly, hemihypertrophy, and connective tissue nevi: Report of a new syndrome and review of the literature J Pediatr 89 924-927
  • [3] Temtamy SA(2014)Proteus syndrome review: molecular, clinical and pathologic features Clin Genet 85 111-9
  • [4] Rogers JG(1999)Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation Am J Med Genet 84 389-95
  • [5] Cohen MM(2006)The challenges of Proteus syndrome: diagnosis and amangement Eur J Hum Genet 14 1151-7
  • [6] Biesecker LG(2012)Proteus syndrome: three case reports with a review of the literature Fetal Pediatr Pathol 31 145-53
  • [7] Happle R(2011)A mosaic activating mutation in AKT1 associated with the Proteus syndrome N Engl J Med 365 611-9
  • [8] Mulliken JB(2000)Proteus syndrome and immunodeficiency Arch Dis Child 82 234-5
  • [9] Weksberg R(2010)Akt1 and Akt2 promote peripheral B-cell maturation and survival Blood 115 4043-50
  • [10] Graham JM(undefined)undefined undefined undefined undefined-undefined
1234