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Title: Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti-TNF-α mAbs
Authors: Moshous, Despina ×
Meyts, Isabelle
Fraitag, Sylvie
Janssen, Carl E I
Debré, Marianne
Suarez, Felipe
Toelen, Jaan
De Boeck, Christiane
Roskams, Tania
Deschildre, Antoine
Picard, Capucine
Bodemer, Christine
Wouters, Carine
Fischer, Alain #
Issue Date: Oct-2011
Publisher: Elsevier
Series Title: Journal of Allergy and Clinical Immunology vol:128 issue:4 pages:847-853
Abstract: BACKGROUND: Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by short-limbed skeletal dysplasia. Some patients also have defects in cell-mediated immunity and antibody production. Granulomatous inflammation has been described in patients with various forms of primary immunodeficiencies but has not been reported in patients with CHH. OBJECTIVE: We sought to describe granulomatous inflammation as a novel feature in patients with CHH, assess associated immunodeficiency, and evaluate treatment options. METHODS: In a retrospective observational study we collected clinical data on 21 patients with CHH to identify and further characterize patients with granulomatous inflammation. RESULTS: Four unrelated patients with CHH (with variable degrees of combined immunodeficiency) had epithelioid cell granulomatous inflammation in the skin and visceral organs. Anti-TNF-α mAb therapy in 3 of these patients led to significant regression of granulomas. However, 1 treated patient had fatal progressive multifocal leukoencephalopathy caused by the JC polyomavirus. In 2 patients immune reconstitution after allogeneic hematopoietic stem cell transplantation led to the complete disappearance of granulomas. CONCLUSION: To the best of our knowledge, this is the first report of granulomatous inflammation in patients with CHH. Although TNF-α antagonists can effectively suppress granulomas, the risk of severe infectious complications limits their use in immunodeficient patients.
URI: 
ISSN: 0091-6749
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Organ Systems (+)
Laboratory of Pediatric Immunology
Translational Cell & Tissue Research
× corresponding author
# (joint) last author

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