The NF-kB signalling pathway in human diseases: From incontinentia pigmenti to ectodermal dysplasia and immune-deficiency syndromes
Smahi A, Courtois G, Rabia SH, et al. The NF-kB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasia and immune-deficiency syndromes. Hum Mol Genet 2002; 11: 2371-2375.
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK- gamma (NEMO)
Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK- gamma (NEMO). Am J Hum Genet 2000; 67: 1555-1562.
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signaling
Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signaling. Nat Genet 2001; 27: 277-285.
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
Dupuis-Girod S, Corradini N, Hadj-Rabia S, et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 2002; 109: e97.
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
Mansour S, Woffendin H, Mitton S, et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 2001; 99: 172-177.
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)
Roberts CM, Angus JE, Leach IH, et al. A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). Eur J Pediatr 2010; 169: 1403-1407.
Incontinentia pigmenti and Behçet's disease: A case of impaired neutrophil chemotaxis
Endoh M, Yokozeki H, Maruyama R, et al. Incontinentia pigmenti and Behçet's disease: a case of impaired neutrophil chemotaxis. Dermatology 1996; 192: 285-287.
Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: Case report and review of outcomes
Permaul P, Narla A, Hornick JL, et al. Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. Immunol Res 2009; 44: 89-98.