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Deficiency in anterior pituitary function-variable immunodeficiency syndrome

Disease definition

Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.

ORPHA:293978

  • Synonym(s):
    • DAVID syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 615577
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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