Orphanet: Thymic aplasia

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Thymic aplasia

Disease definition

A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.


Classification level: Disorder
  • Synonym(s):
    • Nezelof syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.4
  • OMIM: 242700
  • UMLS: C0152094  C0685894
  • MeSH: -
  • GARD: 7201
  • MedDRA: -
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