Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome-Reference-Cited by-同舟云学术

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

Published:2013-02-28 Issue:9 Volume:121 Page:1510-1516
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Mahlaoui Nizar¹²,Pellier Isabelle³⁴,Mignot Cécile²,Jais Jean-Philippe⁵⁶,Bilhou-Nabéra Chrystèle⁷,Moshous Despina¹⁶⁸,Neven Bénédicte¹⁶⁸,Picard Capucine²⁶⁹¹⁰,de Saint-Basile Geneviève⁶⁸,Cavazzana-Calvo Marina⁶⁸¹¹¹²,Blanche Stéphane¹²⁶,Fischer Alain¹²⁶⁸

Affiliation:

1. Unité d'Immunologie et d'Hématologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France;

2. Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France;

3. Unité d'Onco-hémato-immunologie Pédiatrique, Centre Hospitalier Universitaire Angers, France;

4. Inserm, Unité 892, Centre de Recherche en Cancérologie Nantes-Angers, Angers, France;

5. Unité de Biostatistique, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France;

6. Université Sorbonne Paris Cité, Université Paris Descartes, Institut Imagine, Paris, France;

7. Service Hématologie, Immunologie et de Cytogénétique, Hôpital de Bicêtre, AP-HP, Le Kremlin Bicêtre, France;

8. Inserm, U768, Paris, France;

9. Centre d'Etude des Déficits Immunitaires, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France;

10. Laboratoire de Génétique Humaine des Maladies Infectieuses, Inserm U980, Paris, France;

11. Département de Biothérapie, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France; and

12. Centre d'Investigation Clinique Biothérapie Grouptement Hospitalo-Universitaire Ouest, Inserm/AP-HP, Paris, France

Abstract

Key PointsThis study identified a distinct subgroup of WAS patients with an early onset (before the age of 2 years) of severe, life-threatening manifestations. HSCT is a curative strategy in this subgroup of patients and should be performed as early in life as possible, even when a fully matched donor is lacking.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/121/9/1510/1368487/zh800913001510.pdf

Reference27 articles.

1. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.;Aldrich;Pediatrics,1954

2. Familiärer, angeborener Morbus Werlhofii?;Wiskott;Montasschr Kinderheilkd,1937

3. Lessons from the Wiskott-Aldrich syndrome.;Puck;N Engl J Med,2006

4. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.;Derry;Cell,1994

5. WASP: a key immunological multitasker.;Thrasher;Nat Rev Immunol,2010

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