Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency (original) (raw)

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Experience and Reason| July 01 2006

Sophie Dupuis-Girod, MD;

aUnité d'Immunologie et d'Hématologie Pédiatriques

dCentre d'études des Déficits Immunitaires

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Françoise Le Deist, MD, PhD;

Françoise Le Deist, MD, PhD

hDéveloppement Normal et Pathologique du Système Immunitaire, Institut National de la Santé et de la Recherche Médicale U429, Hôpital Necker-Enfants Malades, Paris, France

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Christine Bodemer, MD;

bService de Génétique, Hospices Civils de Lyon, Hôpital de l'Hotel Dieu, Lyon, France

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Anne Puel, PhD;

cDivision of Immunology and Infectious Disease, Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy

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Capucine Picard, MD;

aUnité d'Immunologie et d'Hématologie Pédiatriques

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Xavier Bossuyt, MD, PhD;

fLaboratoire de Génétique Humaine des Maladies Infectieuses, Université René Descartes-Institut National de la Santé et de la Recherche Médicale U550, Faculté de Médecine Necker-Enfants Malades, Paris, France

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Alain Fischer, MD, PhD;

aUnité d'Immunologie et d'Hématologie Pédiatriques

gLaboratory of Experimental Medicine, University Hospital Leuven, Leuven, Belgium

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Jean-Laurent Casanova, MD, PhD

Jean-Laurent Casanova, MD, PhD

aUnité d'Immunologie et d'Hématologie Pédiatriques

cDivision of Immunology and Infectious Disease, Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy

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Address correspondence to Jean-Laurent Casanova, MD, PhD, Laboratoire de Génétique Humaine des Maladies Infectieuses, Université René Descartes-INSERM U550, Faculté de Médecine Necker-Enfants Malades, 75015 Paris, France. E-mail: [email protected]

Pediatrics (2006) 118 (1): e205–e211.

Citation

Sophie Dupuis-Girod, Caterina Cancrini, Françoise Le Deist, Paolo Palma, Christine Bodemer, Anne Puel, Susanna Livadiotti, Capucine Picard, Xavier Bossuyt, Paolo Rossi, Alain Fischer, Jean-Laurent Casanova; Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency. _Pediatrics July 2006; 118 (1): e205–e211. 10.1542/peds.2005-2661

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Anhidrotic ectodermal dysplasia with immunodeficiency is associated with multiple infections and a poor clinical outcome. Hypomorphic mutations in nuclear factor κB essential modulator (NEMO)/IκB kinase complex and a hypermorphic mutation in inhibitor α of nuclear factor κB (IκBα) both result in impaired nuclear factor κB activation and are associated with X-recessive and autosomal-dominant forms of anhidrotic ectodermal dysplasia with immunodeficiency, respectively. Autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency is also associated with a severe T-cell phenotype. It is not known whether hematopoietic stem cell transplantation can cure immune deficiency in children with anhidrotic ectodermal dysplasia with immunodeficiency. A boy with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency and a severe T-cell immunodeficiency underwent transplantation at 1 year of age with haploidentical T-cell–depleted bone marrow after myeloablative conditioning. Engraftment occurred, with full hematopoietic chimerism. Seven years after transplantation, clinical outcome is favorable, with normal T-cell development. As expected, the developmental features of the anhidrotic ectodermal dysplasia syndrome have appeared and persisted. This is the first report of successful hematopoietic stem cell transplantation in a child with anhidrotic ectodermal dysplasia with immunodeficiency. Hematopoietic stem cell transplantation is well tolerated and efficiently cures the profound immunodeficiency associated with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency.

Copyright © 2006 by the American Academy of Pediatrics

2006

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