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Combined immunodeficiency due to Moesin deficiency

Disease definition

A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.

ORPHA:504530

Classification level: Disorder
  • Synonym(s):
    • CID due to Moesin deficiency
    • MSN-related combined immunodeficiency
    • X-linked Moesin-associated immunodeficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 300988
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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