Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

Blood

Volumn 121, Issue 9, 2013, Pages 1510-1516

  Mahlaoui, Nizar ^a   Pellier, Isabelle ^b,c   Mignot, Cécile ^a   Jais, Jean Philippe ^a,d   Bilhou Nabéra, Chrystèle ^e   Moshous, Despina ^a,c,d   Neven, Bénédicte ^a,c,d   Picard, Capucine ^a,c,d   De Saint Basile, Geneviève ^c,d   Cavazzana Calvo, Marina ^a,c,d,f   Blanche, Stéphane ^a,d   Fischer, Alain ^a,c,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

^d Severe aplastic anaemia working party of the European blood and marrow transplantation group   (France)

^e BICÊTRE HOSPITAL   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; RITUXIMAB; ROMIPLOSTIM; WISKOTT ALDRICH SYNDROME PROTEIN;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; ATTRIBUTABLE RISK; AUTOIMMUNE HEMOLYTIC ANEMIA; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; HEMIZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEOPLASM; OCHS SCORE; ONSET AGE; OUTCOME ASSESSMENT; PREDICTIVE VALUE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; RETROSPECTIVE STUDY; SCORING SYSTEM; SEVERE REFRACTORY THROMBOCYTOPENIA; SYMPTOM; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; TREATMENT RESPONSE; VASCULITIS; WISKOTT ALDRICH SYNDROME;

EID: 84876490487     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-08-448118     Document Type: Article

References (27)

1. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954; 13(2):133-139.
2. Wiskott A. Familiarer, angeborener Morbus Werlhofii? Montasschr Kinderheilkd. 1937;68:212-216.
3. Puck JM, Candotti F. Lessons from the Wiskott-Aldrich syndrome. N Engl J Med. 2006;355(17): 1759-1761. (Pubitemid 44631358)
4. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78(4):635-644. (Pubitemid 24268586)
5. Thrasher AJ, Burns SO. WASP: a key immunological multitasker. Nat Rev Immunol. 2010;10(3): 182-192.
6. Zhu Q, Zhang M, Blaese RM, et al. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood. 1995;86(10):3797-3804.
7. Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004; 103(2):456-464. (Pubitemid 38140073)
8. Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, et al. Long-Term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood. 2008;111(1):439-445.
9. Galy A, Roncarolo MG, Thrasher AJ. Development of lentiviral gene therapy for Wiskott Aldrich syndrome. Expert Opin Biol Ther. 2008;8(2):181-190. (Pubitemid 351233711)
10. Qasim W, Gaspar HB, Thrasher AJ. Progress and prospects: gene therapy for inherited immunodeficiencies. Gene Ther. 2009;16(11):1285-1291.
11. Boztug K, Schmidt M, Schwarzer A, et al. Stemcell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med. 2010;363(20):1918-1927.
12. Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004; 104(13):4010-4019. (Pubitemid 39620151)
13. Imai K, Nonoyama S, Ochs HD. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol. 2003; 3(6):427-436. (Pubitemid 39149556)
14. Dupuis-Girod S, Medioni J, Haddad E, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a singlecenter cohort of 55 patients. Pediatrics. 2003; 111(5 Pt 1):e622-e627.
15. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994;125(6 Pt 1):876-885. (Pubitemid 24379120)
16. Albert MH, Bittner TC, Nonoyama S, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-Term outcome, and treatment options. Blood. 2010; 115(16):3231-3238.
17. CEREDIH. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010;135(2):264-272.
18. Gathmann B, Grimbacher B, Beaute J, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008. Clin Exp Immunol. 2009;157(Suppl 1):3-11.
19. Lemahieu V, Gastier JM, Francke U. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. Hum Mutat. 1999; 14(1):54-66. (Pubitemid 29309944)
20. Yamada M, Ohtsu M, Kobayashi I, et al. Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers. Blood. 1999;93(2):756-757. (Pubitemid 29035759)
21. Kawai S, Minegishi M, Ohashi Y, et al. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. J Immunol Methods. 2002;260(1-2):195-205. (Pubitemid 34132885)
22. Picard C, Mellouli F, Duprez R, et al. Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome. Eur J Pediatr. 2006;165(7):453-457. (Pubitemid 43800525)
23. Bussel JB, Buchanan GR, Nugent DJ, et al. A randomized, double-blind study of romiplostim to determine its safety and efficacy in children with immune thrombocytopenia. Blood. 2011;118(1): 28-36.
24. Schurman SH, Candotti F. Autoimmunity in Wiskott-Aldrich syndrome. Curr Opin Rheumatol. 2003;15(4):446-453. (Pubitemid 36774257)
25. Ozsahin H, Le Deist F, Benkerrou M, et al. Bone marrow transplantation in 26 patients with Wiskott-Aldrich syndrome from a single center. J Pediatr. 1996;129(2):238-244. (Pubitemid 27483795)
26. 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):1675-1684.
27. Becker-Herman S, Meyer-Bahlburg A, Schwartz MA, et al. WASp-deficient B cells play a critical, cellintrinsic role in triggering autoimmunity. J Exp Med. 2011;208(10):2033-2042.