Monocytopenia with susceptibility to infections

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Name:
Monocytopenia with susceptibility to infections
Description:
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.
ORPHAcode:
228423
Synonyms:
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
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14