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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.

ORPHA:228423

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

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.