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Primary immunodeficiency syndrome due to p14 deficiency

Disease definition

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.


  • Synonym(s):
    • Primary immunodeficiency syndrome with short stature
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D82.8
  • OMIM: 610798
  • UMLS: C1835829
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


Additional information

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