Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

American Journal of Medical Genetics

Volumn 99, Issue 2, 2001, Pages 172-177

  Mansour, S ^a   Woffendin, H ^b   Mitton, S ^a   Jeffery, I ^a   Jakins, T ^b   Kenwrick, S ^b   Murday, V A ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Ectodermal dysplasia; Incontinentia pigmenti; NEMO

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FAILURE TO THRIVE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; HEMATOLOGIC DISEASE; HUMAN; HYPERPIGMENTATION; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNE DEFICIENCY; INCONTINENTIA PIGMENTI; LETHALITY; LYMPHEDEMA; MALABSORPTION; MALE; OSTEOSCLEROSIS; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; SCANTY HAIR; SEGREGATION ANALYSIS; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME INACTIVATION;

CODON, TERMINATOR; ECTODERMAL DYSPLASIA; FEMALE; HEMATOLOGIC DISEASES; HUMANS; HYPOHIDROSIS; I-KAPPA B KINASE; INCONTINENTIA PIGMENTI; INFANT, NEWBORN; INFECTION; INTESTINAL ABSORPTION; LYMPHEDEMA; MALE; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RECURRENCE; SURVIVORS; X CHROMOSOME;

EID: 0035281865     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1155>3.0.CO;2-Y     Document Type: Article

References (12)

1. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
2. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of Incontinentia pigmenti
3. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
4. Incontinentia pigmenti (Bloch-Sulzberger syndrome)
5. Female mice heterozygous for IKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder Incontinentia pigmenti
6. Mutations in the human homologue of mouse d1 cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
7. Selection against mutant alleles in blood leucocytes is a consistent fature in Incontinentia pigmenti type 2
8. Incontinentia pigmenti in a newborn male infant with DNA confirmation
9. IKK-γ is an essential regulatory subunit of the IkB kinase complex
10. NEMO/IKKγ-deficient mice model Incontinentia pigmenti
11. Complementation cloning of NEMO, a component of the IkB kinase complex essential for NF -κB activation
12. 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)