Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

Common Name(s)

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' ({614038}) (summary by {1:Bigley et al. (2011)}, {5:Hsu et al. (2011)}, and {8:Spinner et al. (2014)}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.