Published online June 12, 2006
PEDIATRICS Vol. 118 No. 1 July 2006, pp. e205-e211 (doi:10.1542/peds.2005-2661)

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EXPERIENCE AND REASON

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

Sophie Dupuis-Girod, MD^a,b, Caterina Cancrini, MD, PhD^c, Françoise Le Deist, MD, PhD^d, Paolo Palma, MD^c, Christine Bodemer, MD^e, Anne Puel, PhD^f, Susanna Livadiotti, MD^c, Capucine Picard, MD^a, Xavier Bossuyt, MD, PhD^g, Paolo Rossi, MD, PhD^c, Alain Fischer, MD, PhD^a,h and Jean-Laurent Casanova, MD, PhD^a,f

^a Unité d'Immunologie et d'Hématologie Pédiatriques
^d Centre d'études des Déficits Immunitaires
^e Service de Dermatologie
^h Développement Normal et Pathologique du Système Immunitaire, Institut National de la Santé et de la Recherche Médicale U429, Hôpital Necker-Enfants Malades, Paris, France
^b Service de Génétique, Hospices Civils de Lyon, Hôpital de l'Hotel Dieu, Lyon, France
^c Division of Immunology and Infectious Disease, Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy
^f Laboratoire 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
^g Laboratory of Experimental Medicine, University Hospital Leuven, Leuven, Belgium

Anhidrotic ectodermal dysplasia with immunodeficiency is associated with multiple infections and a poor clinical outcome. Hypomorphic mutations in nuclear factor B essential modulator (NEMO)/IB kinase complex and a hypermorphic mutation in inhibitor of nuclear factor B (IB) both result in impaired nuclear factor B 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.

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Key Words: anhidrotic ectodermal dysplasia • hematopoietic stem cell transplantation • NF-B • primary immunodeficiency

Abbreviations: EDA, anhidrotic ectodermal dysplasia • EDA-ID, anhidrotic ectodermal dysplasia with immunodeficiency • NF-B, nuclear factor B • NEMO, nuclear factor B essential modulator • OL-EDA-ID, osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency • XR, X-recessive • AD, autosomal dominant • HSCT, hematopoietic stem cell transplantation • IB, inhibitor of NF-B • IgG, immunoglobulin G • GVHD, graft-versus-host disease • BMT, bone marrow transplant • TNF-, tumor necrosis factor • IL, interleukin • TLR, Toll-like receptor

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Accepted Jan 17, 2005.

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