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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Disease definition

A rare primary immunodeficiency characterized by increased susceptibility to infections with candida albicans and weakly pathogenic mycobacteria, such as mycobacterium bovis. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.

ORPHA:477857

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive MSMD due to complete RORgamma receptor defiency
    • Autosomal recessive primary immunodeficiency due to RORC mutation
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: D84.8
  • OMIM: 616622
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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