Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs
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 prima...
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| Veröffentlicht in: | Journal of allergy and clinical immunology 2011-10, Vol.128 (4), p.847-853 |
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| creator | Moshous, Despina, MD, PhD Meyts, Isabelle, MD, PhD Fraitag, Sylvie, MD Janssen, Carl E.I., MBMS Debré, Marianne, MD Suarez, Felipe, MD Toelen, Jaan, MD De Boeck, Kris, MD, PhD Roskams, Tania, MD, PhD Deschildre, Antoine, MD Picard, Capucine, MD, PhD Bodemer, Christine, MD Wouters, Carine, MD, PhD Fischer, Alain, MD, PhD |
| description | 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. |
| doi_str_mv | 10.1016/j.jaci.2011.05.024 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_896237901</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0091674911008487</els_id><sourcerecordid>896237901</sourcerecordid><originalsourceid>FETCH-LOGICAL-c440t-29d8897d9b497dabfa41c81b199e2694a22d4ce3ec5fd5951f5f8ce8fdb85c4f3</originalsourceid><addsrcrecordid>eNp9ksGK1TAUhoMozp3RF3Ah3Yir1pw0bRMRYRhmRmFQ0HEd0vTESSdt7yStcHe-g0_ii_gQPokp96rgwk3CD985Ofk4hDwBWgCF-kVf9Nq4glGAglYFZfwe2QCVTV4LVt0nG0ol5HXD5RE5jrGnKZdCPiRHDBrgUpYboi-DHhc_DXqelpi50Xo9pOCmMYXM6DA7rz9jfqNdyG5222nrdXT6ZfbBxduY6bHLWhzRujlmk015dj-_frt-d5H_-J4Np218RB5Y7SM-Ptwn5NPF-fXZm_zq_eXbs9Or3HBO55zJTgjZdLLl6dSt1RyMgBakRFZLrhnruMESTWW7SlZgKysMCtu1ojLclifk-b7vNkx3C8ZZDS4a9F6PmL6mhKxZ2UgKiWR70oQpxoBWbYMbdNgpoGo1q3q1mlWrWUUrlcymoqeH9ks7YPen5LfKBDw7ADoa7W3yalz8y_EaGLA6ca_2HCYZXxwGFY3D0WDnAppZdZP7_xyv_yk33o0uvXiLO4z9tIQxaVagIlNUfVx3YF0BAEoFF035C9jrrkk</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>896237901</pqid></control><display><type>article</type><title>Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Moshous, Despina, MD, PhD ; Meyts, Isabelle, MD, PhD ; Fraitag, Sylvie, MD ; Janssen, Carl E.I., MBMS ; Debré, Marianne, MD ; Suarez, Felipe, MD ; Toelen, Jaan, MD ; De Boeck, Kris, MD, PhD ; Roskams, Tania, MD, PhD ; Deschildre, Antoine, MD ; Picard, Capucine, MD, PhD ; Bodemer, Christine, MD ; Wouters, Carine, MD, PhD ; Fischer, Alain, MD, PhD</creator><creatorcontrib>Moshous, Despina, MD, PhD ; Meyts, Isabelle, MD, PhD ; Fraitag, Sylvie, MD ; Janssen, Carl E.I., MBMS ; Debré, Marianne, MD ; Suarez, Felipe, MD ; Toelen, Jaan, MD ; De Boeck, Kris, MD, PhD ; Roskams, Tania, MD, PhD ; Deschildre, Antoine, MD ; Picard, Capucine, MD, PhD ; Bodemer, Christine, MD ; Wouters, Carine, MD, PhD ; Fischer, Alain, MD, PhD</creatorcontrib><description>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.</description><identifier>ISSN: 0091-6749</identifier><identifier>EISSN: 1097-6825</identifier><identifier>DOI: 10.1016/j.jaci.2011.05.024</identifier><identifier>PMID: 21714993</identifier><identifier>CODEN: JACIBY</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>Allergy and Immunology ; Antibodies, Monoclonal - administration & dosage ; Antibodies, Monoclonal - adverse effects ; Antibodies, Monoclonal - immunology ; anti–TNF-α mAb therapy ; Biological and medical sciences ; Cartilage-hair hypoplasia ; Child ; Child, Preschool ; Dermatitis - immunology ; Dermatitis - pathology ; Dermatitis - therapy ; Diseases of the osteoarticular system ; Female ; Fundamental and applied biological sciences. Psychology ; Fundamental immunology ; Granuloma - immunology ; Granuloma - pathology ; Granuloma - therapy ; granulomatous inflammation ; Hair - abnormalities ; Hair - immunology ; Hair - pathology ; Hematopoietic Stem Cell Transplantation ; Hirschsprung Disease - immunology ; Hirschsprung Disease - pathology ; Hirschsprung Disease - therapy ; Humans ; Immunodeficiencies ; Immunodeficiencies. Immunoglobulinopathies ; Immunologic Deficiency Syndromes - immunology ; Immunologic Deficiency Syndromes - pathology ; Immunologic Deficiency Syndromes - therapy ; Immunopathology ; Inflammation - immunology ; Inflammation - pathology ; Inflammation - therapy ; infliximab ; Leukoencephalopathy, Progressive Multifocal - immunology ; Leukoencephalopathy, Progressive Multifocal - pathology ; Leukoencephalopathy, Progressive Multifocal - therapy ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Osteochondrodysplasias - congenital ; Osteochondrodysplasias - immunology ; Osteochondrodysplasias - pathology ; Osteochondrodysplasias - therapy ; primary immunodeficiency ; progressive multifocal leukoencephalopathy ; Retrospective Studies ; Risk Factors ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis ; Transplantation, Homologous ; Tumor Necrosis Factor-alpha - antagonists & inhibitors ; Tumor Necrosis Factor-alpha - immunology</subject><ispartof>Journal of allergy and clinical immunology, 2011-10, Vol.128 (4), p.847-853</ispartof><rights>American Academy of Allergy, Asthma & Immunology</rights><rights>2011 American Academy of Allergy, Asthma & Immunology</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c440t-29d8897d9b497dabfa41c81b199e2694a22d4ce3ec5fd5951f5f8ce8fdb85c4f3</citedby><cites>FETCH-LOGICAL-c440t-29d8897d9b497dabfa41c81b199e2694a22d4ce3ec5fd5951f5f8ce8fdb85c4f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jaci.2011.05.024$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,781,785,3551,27929,27930,46000</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24612126$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21714993$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Moshous, Despina, MD, PhD</creatorcontrib><creatorcontrib>Meyts, Isabelle, MD, PhD</creatorcontrib><creatorcontrib>Fraitag, Sylvie, MD</creatorcontrib><creatorcontrib>Janssen, Carl E.I., MBMS</creatorcontrib><creatorcontrib>Debré, Marianne, MD</creatorcontrib><creatorcontrib>Suarez, Felipe, MD</creatorcontrib><creatorcontrib>Toelen, Jaan, MD</creatorcontrib><creatorcontrib>De Boeck, Kris, MD, PhD</creatorcontrib><creatorcontrib>Roskams, Tania, MD, PhD</creatorcontrib><creatorcontrib>Deschildre, Antoine, MD</creatorcontrib><creatorcontrib>Picard, Capucine, MD, PhD</creatorcontrib><creatorcontrib>Bodemer, Christine, MD</creatorcontrib><creatorcontrib>Wouters, Carine, MD, PhD</creatorcontrib><creatorcontrib>Fischer, Alain, MD, PhD</creatorcontrib><title>Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs</title><title>Journal of allergy and clinical immunology</title><addtitle>J Allergy Clin Immunol</addtitle><description>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.</description><subject>Allergy and Immunology</subject><subject>Antibodies, Monoclonal - administration & dosage</subject><subject>Antibodies, Monoclonal - adverse effects</subject><subject>Antibodies, Monoclonal - immunology</subject><subject>anti–TNF-α mAb therapy</subject><subject>Biological and medical sciences</subject><subject>Cartilage-hair hypoplasia</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Dermatitis - immunology</subject><subject>Dermatitis - pathology</subject><subject>Dermatitis - therapy</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Fundamental immunology</subject><subject>Granuloma - immunology</subject><subject>Granuloma - pathology</subject><subject>Granuloma - therapy</subject><subject>granulomatous inflammation</subject><subject>Hair - abnormalities</subject><subject>Hair - immunology</subject><subject>Hair - pathology</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Hirschsprung Disease - immunology</subject><subject>Hirschsprung Disease - pathology</subject><subject>Hirschsprung Disease - therapy</subject><subject>Humans</subject><subject>Immunodeficiencies</subject><subject>Immunodeficiencies. Immunoglobulinopathies</subject><subject>Immunologic Deficiency Syndromes - immunology</subject><subject>Immunologic Deficiency Syndromes - pathology</subject><subject>Immunologic Deficiency Syndromes - therapy</subject><subject>Immunopathology</subject><subject>Inflammation - immunology</subject><subject>Inflammation - pathology</subject><subject>Inflammation - therapy</subject><subject>infliximab</subject><subject>Leukoencephalopathy, Progressive Multifocal - immunology</subject><subject>Leukoencephalopathy, Progressive Multifocal - pathology</subject><subject>Leukoencephalopathy, Progressive Multifocal - therapy</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Osteochondrodysplasias - congenital</subject><subject>Osteochondrodysplasias - immunology</subject><subject>Osteochondrodysplasias - pathology</subject><subject>Osteochondrodysplasias - therapy</subject><subject>primary immunodeficiency</subject><subject>progressive multifocal leukoencephalopathy</subject><subject>Retrospective Studies</subject><subject>Risk Factors</subject><subject>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</subject><subject>Transplantation, Homologous</subject><subject>Tumor Necrosis Factor-alpha - antagonists & inhibitors</subject><subject>Tumor Necrosis Factor-alpha - immunology</subject><issn>0091-6749</issn><issn>1097-6825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9ksGK1TAUhoMozp3RF3Ah3Yir1pw0bRMRYRhmRmFQ0HEd0vTESSdt7yStcHe-g0_ii_gQPokp96rgwk3CD985Ofk4hDwBWgCF-kVf9Nq4glGAglYFZfwe2QCVTV4LVt0nG0ol5HXD5RE5jrGnKZdCPiRHDBrgUpYboi-DHhc_DXqelpi50Xo9pOCmMYXM6DA7rz9jfqNdyG5222nrdXT6ZfbBxduY6bHLWhzRujlmk015dj-_frt-d5H_-J4Np218RB5Y7SM-Ptwn5NPF-fXZm_zq_eXbs9Or3HBO55zJTgjZdLLl6dSt1RyMgBakRFZLrhnruMESTWW7SlZgKysMCtu1ojLclifk-b7vNkx3C8ZZDS4a9F6PmL6mhKxZ2UgKiWR70oQpxoBWbYMbdNgpoGo1q3q1mlWrWUUrlcymoqeH9ks7YPen5LfKBDw7ADoa7W3yalz8y_EaGLA6ca_2HCYZXxwGFY3D0WDnAppZdZP7_xyv_yk33o0uvXiLO4z9tIQxaVagIlNUfVx3YF0BAEoFF035C9jrrkk</recordid><startdate>20111001</startdate><enddate>20111001</enddate><creator>Moshous, Despina, MD, PhD</creator><creator>Meyts, Isabelle, MD, PhD</creator><creator>Fraitag, Sylvie, MD</creator><creator>Janssen, Carl E.I., MBMS</creator><creator>Debré, Marianne, MD</creator><creator>Suarez, Felipe, MD</creator><creator>Toelen, Jaan, MD</creator><creator>De Boeck, Kris, MD, PhD</creator><creator>Roskams, Tania, MD, PhD</creator><creator>Deschildre, Antoine, MD</creator><creator>Picard, Capucine, MD, PhD</creator><creator>Bodemer, Christine, MD</creator><creator>Wouters, Carine, MD, PhD</creator><creator>Fischer, Alain, MD, PhD</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20111001</creationdate><title>Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs</title><author>Moshous, Despina, MD, PhD ; Meyts, Isabelle, MD, PhD ; Fraitag, Sylvie, MD ; Janssen, Carl E.I., MBMS ; Debré, Marianne, MD ; Suarez, Felipe, MD ; Toelen, Jaan, MD ; De Boeck, Kris, MD, PhD ; Roskams, Tania, MD, PhD ; Deschildre, Antoine, MD ; Picard, Capucine, MD, PhD ; Bodemer, Christine, MD ; Wouters, Carine, MD, PhD ; Fischer, Alain, MD, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c440t-29d8897d9b497dabfa41c81b199e2694a22d4ce3ec5fd5951f5f8ce8fdb85c4f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Allergy and Immunology</topic><topic>Antibodies, Monoclonal - administration & dosage</topic><topic>Antibodies, Monoclonal - adverse effects</topic><topic>Antibodies, Monoclonal - immunology</topic><topic>anti–TNF-α mAb therapy</topic><topic>Biological and medical sciences</topic><topic>Cartilage-hair hypoplasia</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Dermatitis - immunology</topic><topic>Dermatitis - pathology</topic><topic>Dermatitis - therapy</topic><topic>Diseases of the osteoarticular system</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Fundamental immunology</topic><topic>Granuloma - immunology</topic><topic>Granuloma - pathology</topic><topic>Granuloma - therapy</topic><topic>granulomatous inflammation</topic><topic>Hair - abnormalities</topic><topic>Hair - immunology</topic><topic>Hair - pathology</topic><topic>Hematopoietic Stem Cell Transplantation</topic><topic>Hirschsprung Disease - immunology</topic><topic>Hirschsprung Disease - pathology</topic><topic>Hirschsprung Disease - therapy</topic><topic>Humans</topic><topic>Immunodeficiencies</topic><topic>Immunodeficiencies. Immunoglobulinopathies</topic><topic>Immunologic Deficiency Syndromes - immunology</topic><topic>Immunologic Deficiency Syndromes - pathology</topic><topic>Immunologic Deficiency Syndromes - therapy</topic><topic>Immunopathology</topic><topic>Inflammation - immunology</topic><topic>Inflammation - pathology</topic><topic>Inflammation - therapy</topic><topic>infliximab</topic><topic>Leukoencephalopathy, Progressive Multifocal - immunology</topic><topic>Leukoencephalopathy, Progressive Multifocal - pathology</topic><topic>Leukoencephalopathy, Progressive Multifocal - therapy</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Osteochondrodysplasias - congenital</topic><topic>Osteochondrodysplasias - immunology</topic><topic>Osteochondrodysplasias - pathology</topic><topic>Osteochondrodysplasias - therapy</topic><topic>primary immunodeficiency</topic><topic>progressive multifocal leukoencephalopathy</topic><topic>Retrospective Studies</topic><topic>Risk Factors</topic><topic>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</topic><topic>Transplantation, Homologous</topic><topic>Tumor Necrosis Factor-alpha - antagonists & inhibitors</topic><topic>Tumor Necrosis Factor-alpha - immunology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Moshous, Despina, MD, PhD</creatorcontrib><creatorcontrib>Meyts, Isabelle, MD, PhD</creatorcontrib><creatorcontrib>Fraitag, Sylvie, MD</creatorcontrib><creatorcontrib>Janssen, Carl E.I., MBMS</creatorcontrib><creatorcontrib>Debré, Marianne, MD</creatorcontrib><creatorcontrib>Suarez, Felipe, MD</creatorcontrib><creatorcontrib>Toelen, Jaan, MD</creatorcontrib><creatorcontrib>De Boeck, Kris, MD, PhD</creatorcontrib><creatorcontrib>Roskams, Tania, MD, PhD</creatorcontrib><creatorcontrib>Deschildre, Antoine, MD</creatorcontrib><creatorcontrib>Picard, Capucine, MD, PhD</creatorcontrib><creatorcontrib>Bodemer, Christine, MD</creatorcontrib><creatorcontrib>Wouters, Carine, MD, PhD</creatorcontrib><creatorcontrib>Fischer, Alain, MD, PhD</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of allergy and clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Moshous, Despina, MD, PhD</au><au>Meyts, Isabelle, MD, PhD</au><au>Fraitag, Sylvie, MD</au><au>Janssen, Carl E.I., MBMS</au><au>Debré, Marianne, MD</au><au>Suarez, Felipe, MD</au><au>Toelen, Jaan, MD</au><au>De Boeck, Kris, MD, PhD</au><au>Roskams, Tania, MD, PhD</au><au>Deschildre, Antoine, MD</au><au>Picard, Capucine, MD, PhD</au><au>Bodemer, Christine, MD</au><au>Wouters, Carine, MD, PhD</au><au>Fischer, Alain, MD, PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs</atitle><jtitle>Journal of allergy and clinical immunology</jtitle><addtitle>J Allergy Clin Immunol</addtitle><date>2011-10-01</date><risdate>2011</risdate><volume>128</volume><issue>4</issue><spage>847</spage><epage>853</epage><pages>847-853</pages><issn>0091-6749</issn><eissn>1097-6825</eissn><coden>JACIBY</coden><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.</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>21714993</pmid><doi>10.1016/j.jaci.2011.05.024</doi><tpages>7</tpages></addata></record> |
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| ispartof | Journal of allergy and clinical immunology, 2011-10, Vol.128 (4), p.847-853 |
| issn | 0091-6749 1097-6825 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_896237901 |
| source | MEDLINE; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals |
| subjects | Allergy and Immunology Antibodies, Monoclonal - administration & dosage Antibodies, Monoclonal - adverse effects Antibodies, Monoclonal - immunology anti–TNF-α mAb therapy Biological and medical sciences Cartilage-hair hypoplasia Child Child, Preschool Dermatitis - immunology Dermatitis - pathology Dermatitis - therapy Diseases of the osteoarticular system Female Fundamental and applied biological sciences. Psychology Fundamental immunology Granuloma - immunology Granuloma - pathology Granuloma - therapy granulomatous inflammation Hair - abnormalities Hair - immunology Hair - pathology Hematopoietic Stem Cell Transplantation Hirschsprung Disease - immunology Hirschsprung Disease - pathology Hirschsprung Disease - therapy Humans Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunologic Deficiency Syndromes - immunology Immunologic Deficiency Syndromes - pathology Immunologic Deficiency Syndromes - therapy Immunopathology Inflammation - immunology Inflammation - pathology Inflammation - therapy infliximab Leukoencephalopathy, Progressive Multifocal - immunology Leukoencephalopathy, Progressive Multifocal - pathology Leukoencephalopathy, Progressive Multifocal - therapy Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Osteochondrodysplasias - congenital Osteochondrodysplasias - immunology Osteochondrodysplasias - pathology Osteochondrodysplasias - therapy primary immunodeficiency progressive multifocal leukoencephalopathy Retrospective Studies Risk Factors Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Transplantation, Homologous Tumor Necrosis Factor-alpha - antagonists & inhibitors Tumor Necrosis Factor-alpha - immunology |
| title | Granulomatous inflammation in cartilage-hair hypoplasia: Risks and benefits of anti–TNF-α mAbs |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-13T10%3A56%3A02IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Granulomatous%20inflammation%20in%20cartilage-hair%20hypoplasia:%20Risks%20and%20benefits%20of%20anti%E2%80%93TNF-%CE%B1%20mAbs&rft.jtitle=Journal%20of%20allergy%20and%20clinical%20immunology&rft.au=Moshous,%20Despina,%20MD,%20PhD&rft.date=2011-10-01&rft.volume=128&rft.issue=4&rft.spage=847&rft.epage=853&rft.pages=847-853&rft.issn=0091-6749&rft.eissn=1097-6825&rft.coden=JACIBY&rft_id=info:doi/10.1016/j.jaci.2011.05.024&rft_dat=%3Cproquest_cross%3E896237901%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=896237901&rft_id=info:pmid/21714993&rft_els_id=S0091674911008487&rfr_iscdi=true |