MonoMAC

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monoMAC syndrome
Classification and external resources

The autosomal dominant syndrome associated with monocytopenia, B and NK cell lymphopenia and mycobacterial, fungal and viral infections (abbreviated MonoMAC) is a rare genetic disorder first described by Vihn and colleagues in 2010[1] and is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis and myeloid leukemias.[2] Multiple mutations in the GATA2 are considered to be responsible for this syndrome.

Signs and symptoms

This syndrome is characterized by an increased susceptibility to disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses, and fungal infections, primarily histoplasmosis, and molds. There is profound monocytopenia, B lymphocytopenia and NK lymphocytopenia. Patients have an increased chance of developing malignancies, including: myelodysplasia/leukemia vulvar carcinoma, metastatic melanoma, cervical carcinoma, Bowen disease of the vulva, and multiple Epstein-Barr virus(+) leiomyosarcoma. Patients may also develop pulmonary alveolar proteinosis without mutations in the granulocyte-macrophage colony-stimulating factor receptor or anti-granulocyte-macrophage colony-stimulating factor autoantibodies. Last, patients may develop autoimmune phenomena, including lupus like syndromes, primary biliary cirrhosis or aggressive multiple sclerosis.

Of the 25, now 26, patients probably afflicted by this syndrome, 48% died of causes ranging from cancer to myelodysplasia with a mean age at death of 34.7 years and median age of 36.5 years.

Clinical features and complications of the syndrome
Clinical feature Overall (%) Autosomal dominant patients (%) Sporadic patients (%)
Infection
Mycobacteria 78 86 73
HPV 78 86 73
Fungi 28 43 18
Complication
PAP 33 29 36
Panniculitis/erythema nodosum 33 29 36
Myelodiysplasia/acute myeloid leukemia 50 71 36
Death 28 43 18

Genetics

12 distinct mutations in the GATA2 gene have been identified. They include missense mutations affecting the zinc finger-2 domain and insertion/deletion mutations leading to frameshifts and premature termination.

Treatment

There is no FDA approved treatment. Stem cell transplantation is currently under evaluation.[3]

See also

References

Pediatric glossary of terms | Glossary of medical terms | Dictionary of pediatrics

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