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Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Disease definition

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ORPHA:69088

Classification level: Disorder
  • Synonym(s):
    • OL-EDA-ID
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.2
  • OMIM: 300291  612132
  • UMLS: C1845919
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti.

Clinical description

The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi.

Etiology

The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).

- Last update: March 2009

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.