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Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs.

Authors :
Moshous D
Meyts I
Fraitag S
Janssen CE
Debré M
Suarez F
Toelen J
De Boeck K
Roskams T
Deschildre A
Picard C
Bodemer C
Wouters C
Fischer A
Source :
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2011 Oct; Vol. 128 (4), pp. 847-53. Date of Electronic Publication: 2011 Jun 28.
Publication Year :
2011

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.<br />Objective: We sought to describe granulomatous inflammation as a novel feature in patients with CHH, assess associated immunodeficiency, and evaluate treatment options.<br />Methods: In a retrospective observational study we collected clinical data on 21 patients with CHH to identify and further characterize patients with granulomatous inflammation.<br />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.<br />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.<br /> (Copyright © 2011 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.)

Details

Language :
English
ISSN :
1097-6825
Volume :
128
Issue :
4
Database :
MEDLINE
Journal :
The Journal of allergy and clinical immunology
Publication Type :
Academic Journal
Accession number :
21714993
Full Text :
https://doi.org/10.1016/j.jaci.2011.05.024