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.

Hypothyroidism

Deficiency of thyroid hormone.


Total: 1

                      


(per page)
PMID (PMCID)
31035956
OTHER
GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report.
Mendes-de-Almeida DP, Andrade FG, Borges G, Dos Santos-Bueno FV, Vieira IF, da Rocha LKMDS, Mendes-da-Cruz DA, Zancope-Oliveira RM, Calado RT, Pombo-de-Oliveira MS.
BMC Med Genet. 2019;20(1):64.
We described a 438201years-old white male with 20-year follow-up of autoimmune and thrombotic phenomena, hypothyroidism, disseminated refractory Mycobacterium kansasii infection and MonoMAC syndrome.