Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 autosomaldominant 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.

Original languageEnglish
JournalPediatrics
Volume118
Issue number1
DOIs
Publication statusPublished - Jul 2006

Keywords

  • Anhidrotic ectodermal dysplasia
  • Hematopoietic stem cell transplantation
  • NF-κB
  • Primary immunodeficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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