Monocytopenia with susceptibility to infections

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.

Immunodeficiency

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.


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PMID (PMCID)
23344397
(3798064)
 FEMALE Adult
Management of uterine bleeding during hematopoietic stem cell transplantation.
Purisch SE, Shanis D, Zerbe C, Merideth M, Cuellar-Rodriguez J, Stratton P.
Obstet Gynecol. 2013;121(2 Pt 2 Suppl 1):424-7.
A premenopausal woman with MonoMAC (a rare adult-onset immunodeficiency syndrome characterized by monocytopenia and Mycobacterium avium complex infections resulting from mutations in GATA2, a crucial gene in early hematopoiesis) presented with pancytopenia, evolving leukemia, and recent strokes, necessitating anticoagulation.
23728141
 MALE Young Adult
MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature.
Camargo JF, Lobo SA, Hsu AP, Zerbe CS, Wormser GP, Holland SM.
Clin Infect Dis. 2013;57(5):697-9.
We report a case of MonoMAC syndrome in a patient with a GATA2 mutation and discuss the manifestations, diagnosis, and treatment of this novel immunodeficiency disorder.