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T-cell immunodeficiency with thymic aplasia

Disease definition

A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia 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.

ORPHA:83471

Classification level: Disorder
  • Synonym(s):
    • Nezelof syndrome
    • TIDTA
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.4
  • ICD-11: 4A01.30
  • OMIM: 242700
  • UMLS: C0152094
  • MeSH: -
  • GARD: 7201
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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