Monocytopenia with susceptibility to infections
Engelsk navn: Monocytopenia with susceptibility to infections
Engelske synonym: 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
Definisjon
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.
Fra Orphanet
ORPHA: 228423
Klassifiseringsnivå: Disorder
ICD-10: D72.8
