Orphanet: Monocytopenia with susceptibility to infections

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Monocytopenia with susceptibility to infections

Disease definition

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.


Classification level: Disorder
  • Synonym(s):
    • Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
    • Dendritic cell, monocyte, B and NK lymphoid deficiency
    • MonoMAC
    • Monocyte-B-natural killer-dendritic cell deficiency syndrome
    • Monocytopenia and mycobacterial infection syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Adult
  • ICD-10: D72.8
  • OMIM: 614172
  • UMLS: -
  • MeSH: -
  • GARD: 10934
  • MedDRA: -

Detailed information


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