title: Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency.
abstract: Anhidrotic ectodermal dysplasia with immunodeficiency is associated with multiple infections and a poor clinical outcome. Hypomorphic mutations in nuclear factor kappaB essential modulator (NEMO)/IkappaB kinase complex and a hypermorphic mutation in inhibitor alpha of nuclear factor kappaB (IkappaBalpha) both result in impaired nuclear factor kappaB 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.
authors.affiliation: Unité d'Immunologie et d'Hématologie Pédiatriques, Institut National de la Santé et de la Recherche Médicale U429, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Dupuis-Girod
authors.forename: Caterina
authors.initials: C
authors.lastname: Cancrini
authors.forename: Françoise
authors.initials: F
authors.lastname: Le Deist
authors.forename: Paolo
authors.initials: P
authors.lastname: Palma
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
authors.forename: Anne
authors.initials: A
authors.lastname: Puel
authors.forename: Susanna
authors.initials: S
authors.lastname: Livadiotti
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Xavier
authors.initials: X
authors.lastname: Bossuyt
authors.forename: Paolo
authors.initials: P
authors.lastname: Rossi
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D046528:Chimerism; D015897:Comorbidity; D004476:Ectodermal Dysplasia / Q000453:epidemiology* / Q000276:immunology / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000453:epidemiology* / Q000276:immunology / Q000628:therapy*; D007231:Infant, Newborn; D018655:Lymphocyte Count; D008297:Male; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000453:epidemiology / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology; D019172:Transplantation Conditioning; D014860:Warts / Q000453:epidemiology / Q000276:immunology
chemical_list: D016756:Immunoglobulins, Intravenous