Monocytopenia with susceptibility to infections

Orpha code: 228423OMIM code: 614172

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.

Disease data
Classification

Disease

Synonyms
Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
MonoMAC
Niedobór komórek dendrytycznych, monocytów, limfocytów B i NK
Niedobór monocytów - B - naturalnych zabójców - komórek dendrytycznych
Zespół monocytopenia i zakażenia mykobakteryjne
Złożony Niedobór odporności z podatnością na zakażenia mykobakteryjne, wirusowe i grzybicze
Dendritic cell, monocyte, B and NK lymphoid deficiency
MonoMAC
Monocyte-B-natural killer-dendritic cell deficiency syndrome
Monocytopenia and mycobacterial infection syndrome
ORPHA code
228423
OMIM code
614172
ICD10 code
D72.8
ICD11 code
4A00.2

No additional description.

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