Wiskott Aldrich Sendromu

Yıl 2008, Cilt: 6 Sayı: 1, 119 - 123, 01.06.2008

Şenay Yapıcı Sara Şebnem Kılıç

Öz

Wiskott Aldrich Sendromu WAS X’e bağlı resesif geçen, mikrotrombositopeni, egzema, sekonder piyojenik enfeksiyonlar, otoimmün hastalıklar ve lenforetiküler neoplazi riskinin arttığı iyi tanımlanmış immun yetmezlik sendromudur. WAS ve X’e bağlı geçiş gösteren trombositopeniden sorumlu gen WASPgenidir. WASP mutasyonlarının tipine göre hastalığın ağırlığı değişmektedir.WAS’lı olgularda kök hücre transplantasyonu veya gen tedavisi kür sağlayantek tedavi yöntemidir. Sekonder enfeksiyonlara karşı profilaktik antimikrobiyal tedavinin gelişmesi ve profilaktik IVIG tedavisi beklenen yaşam süresiniuzatmaktadır

Anahtar Kelimeler

Wiskott Aldrich Sendromu, trombositopeni, immün yetmezlik

Wiskott Aldrich Syndrome

Öz

The Wiskott Aldrich Syndrome WAS is a well defined X-linked recessive disorder associated with microplatelet thrombocytopeniae, eczema, secondary pyogenic infections, and an increased risk of autoimmunity andlymphoreticular neoplasia. The responsible mutations that are associated withWAS and X-linked thrombocytopeniae are mutations in the WAS protein. Severity of the disease varies with types of WASP mutations. Hematopoieticstem cell transplantations or gene therapy is the only curative therapy for WASpatients. Improved profilactic antimicrobial therapy againts secondary infectionsand prophylactic use of IVIG have markedly prolonged the life expectancy ofWAS patients

Anahtar Kelimeler

Wiskott Aldrich Syndrome, thrombocytopeniae, immunodeficiency

Kaynakça

• Wiskott A. Familiarer, Angebarener Morbus Werlhofi Mo- natsschn Kinderheilkd 1937; 68: 212-6.
• Aldrich RA, Steinderg AG, Campbell DC. Pedigree demons- trating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954; 13: 133-9.
• Sullivian KE, Mullen CA, Blease RM. A multiinstitiuinal survey of the Wiskott Aldrich Syndrome. J Pediatr 1994; 125: 876-85.
• Cooper MD, Chae HP, Lawman JT,. Wiskott Aldrich Syndro- me. An immunologic deficiency disease involving the affe- rent limb of immunity. Am J. Med 1968; 44: 499-513.
• Ochs HD, Rosen FS. The Wiskott Aldrich Syndrome. In: Ochs HD, Smith CIE, Puck JM, editors. Primary Immundeficiency Diseases; A Molecular and Genetic Approach. 1st ed. Ox- ford, Oxford University Pres; 1999: 292-305.
• Derry JM, Ochs HD, Francke U. Isolation of a novel gene mu- tated in Wiskott Aldrich Syndrome. Cell 1994; 78: 635-44.
• Zhu Q, Watanabe C, Liu T, et al. Wiskott Aldrich Syndrome/ X-linked thrombocytopeniae: WASP mutations, protein ex- pressions and phenotype. Blood 1997; 90: 2680-9.
• Orange JS, Stone KD, Turvey SE, The Wiskott Aldrich Syndrome. Cell Mol Life Sci 2004;61:2361-85.
• Ochs HD. The Wiskott Aldrich Syndrome. Clin Rev Allergy Immunol 2001; 20: 61-86.
• Doğu F, İkincioğulları A. Diğer İyi Tanımlanmış İmmun Yeter- sizlik Sendromları. Türkiye Klinikleri Dergisi 2005: 32-44.
• İmai K, Nanayama S, Ochs HD. WASP (Wiskott Aldrich Syndrome Protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 2003; 3:427-36.
• Kawai S, Minegishi M, Ohashi Y, et al. Flow cytometric deter- mination of intracytoplasmic Wiskott-Aldrich syndrome pro- tein in peripheral blood lymphocyte subpopulations. J Immu- nol Methods 2002; 260: 195-205.
• Babacan E, İkincioğullar A, Doğu F, et al. Wiskott Aldrich Sendromu: Beş vakanın immünolojik özellikleri ve klinik iz- lem. Çocuk Sağlığı ve Hastalıkları Dergisi 1997; 40: 223-44.
• Girad S, Mediani J, et al. Autoimmunity in Wiskott Aldrich Syndrome: Risk factors, Clinical features and Outcome in a Single-center cohort of 55 patients. Pediatrics 2003;111: 622-7.
• Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immundeficiencies. Clin Immunol 1999;93:190-7.
• Filipouchi AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott Aldrich Syndrome, collobarative study of the International Bone Marrow Transplant Registry and National Marrow Do- nor Program. Blood 2001; 97:1598-603.