Literature DB >> 12728121

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients.

Sophie Dupuis-Girod1, Jacques Medioni, Elie Haddad, Pierre Quartier, Marina Cavazzana-Calvo, Françoise Le Deist, Geneviève de Saint Basile, Jean Delaunay, Klaus Schwarz, Jean-Laurent Casanova, Stephane Blanche, Alain Fischer.   

Abstract

OBJECTIVES: To evaluate the occurrence of autoimmune and inflammatory complications in Wiskott-Aldrich syndrome (WAS) and to determine risk factors and the prognosis of such complications with the aim of improving the definition of treatment options.
METHODS: We reviewed the records of 55 patients with WAS evaluated at Necker-Enfants Malades Hospital (Paris) from 1980 to 2000.
RESULTS: Forty patients (72%) had at least 1 autoimmune or inflammatory complication. Autoimmune hemolytic anemia was detected in 20 cases (36%); in all cases, onset occurred before the age of 5 years. Other complications included neutropenia (25%), arthritis (29%), skin vasculitis (22%), cerebral vasculitis (7%), inflammatory bowel disease (9%), and renal disease (3%). The median survival of the entire population was 14.5 years. Two autoimmune complications and 1 biological factor were predictive of a poor prognosis in this population: autoimmune hemolytic anemia, severe thrombocytopenia recurring after splenectomy, and high serum immunoglobulin M (IgM) levels before splenectomy. Autoimmune hemolytic anemia was significantly more observed in patients with high serum IgM level.
CONCLUSIONS: High serum IgM concentration before splenectomy was identified as a risk factor for autoimmune hemolytic anemia; however, it must be confirmed. Autoimmune hemolytic anemia and severe thrombocytopenia recurring after splenectomy were 2 indicators of a poor prognosis. Those results suggest that patients with WAS and IgM levels more than mean + 2 standard deviations before splenectomy should be placed under strict surveillance. Furthermore, severe autoimmune complications should lead, as early as possible, to hematopoietic stem cell transplantation using the best available donor.

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Year:  2003        PMID: 12728121     DOI: 10.1542/peds.111.5.e622

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  96 in total

1.  Systemic autoimmunity and defective Fas ligand secretion in the absence of the Wiskott-Aldrich syndrome protein.

Authors:  Nikolay P Nikolov; Masaki Shimizu; Sophia Cleland; Daniel Bailey; Joseph Aoki; Ted Strom; Pamela L Schwartzberg; Fabio Candotti; Richard M Siegel
Journal:  Blood       Date:  2010-05-10       Impact factor: 22.113

2.  Development of IgA nephropathy-like glomerulonephritis associated with Wiskott-Aldrich syndrome protein deficiency.

Authors:  M Shimizu; N P Nikolov; K Ueno; K Ohta; R M Siegel; A Yachie; F Candotti
Journal:  Clin Immunol       Date:  2011-10-19       Impact factor: 3.969

3.  B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

Authors:  Mike Recher; Siobhan O Burns; Miguel A de la Fuente; Stefano Volpi; Carin Dahlberg; Jolan E Walter; Kristin Moffitt; Divij Mathew; Nadine Honke; Philipp A Lang; Laura Patrizi; Hervé Falet; Marton Keszei; Masayuki Mizui; Eva Csizmadia; Fabio Candotti; Kari Nadeau; Gerben Bouma; Ottavia M Delmonte; Francesco Frugoni; Angela B Ferraz Fomin; David Buchbinder; Emma Maria Lundequist; Michel J Massaad; George C Tsokos; John Hartwig; John Manis; Cox Terhorst; Raif S Geha; Scott Snapper; Karl S Lang; Richard Malley; Lisa Westerberg; Adrian J Thrasher; Luigi D Notarangelo
Journal:  Blood       Date:  2012-02-01       Impact factor: 22.113

4.  Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein.

Authors:  Deanna D Nguyen; Michel H Maillard; Vinicius Cotta-de-Almeida; Emiko Mizoguchi; Christoph Klein; Ivan Fuss; Cathryn Nagler; Atsushi Mizoguchi; Atul K Bhan; Scott B Snapper
Journal:  Gastroenterology       Date:  2007-07-12       Impact factor: 22.682

Review 5.  Warts and all: human papillomavirus in primary immunodeficiencies.

Authors:  Jennifer W Leiding; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2012-10-01       Impact factor: 10.793

Review 6.  Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders.

Authors:  Ramona Goyal; Ariel C Bulua; Nikolay P Nikolov; Pamela L Schwartzberg; Richard M Siegel
Journal:  Curr Opin Rheumatol       Date:  2009-01       Impact factor: 5.006

7.  Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia.

Authors:  Akihiro Hoshino; Masaki Shimizu; Hiroyoshi Matsukura; Hisano Sakaki-Nakatsubo; Keiko Nomura; Toshio Miyawaki; Hirokazu Kanegane
Journal:  J Clin Immunol       Date:  2013-11-12       Impact factor: 8.317

8.  Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.

Authors:  Karen L Simon; Stacie M Anderson; Elizabeth K Garabedian; Daniele Moratto; Robert A Sokolic; Fabio Candotti
Journal:  J Allergy Clin Immunol       Date:  2013-11-08       Impact factor: 10.793

Review 9.  Immune pathology associated with altered actin cytoskeleton regulation.

Authors:  Dilki C Wickramarachchi; Argyrios N Theofilopoulos; Dwight H Kono
Journal:  Autoimmunity       Date:  2010-02       Impact factor: 2.815

Review 10.  Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency--lessons learned from monogenic disorders in mice and men.

Authors:  Lisa S Westerberg; Christoph Klein; Scott B Snapper
Journal:  Curr Opin Immunol       Date:  2008-11-12       Impact factor: 7.486

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