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.

Monocytopenia

An decreased number of circulating monocytes.

Total: 6

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PMID (PMCID)
29618691	MALE	Young Adult
	[MonoMAC syndrome patient developing myelodysplastic syndrome following persistent EBV infection].
	Yamamoto H, Hattori H, Takagi E, Morishita T, Ishikawa Y, Terakura S, Nishida T, Ito Y, Murata M, Kiyoi H. Rinsho Ketsueki. 2018;59(3):315-322.
	GATA2 mutation p.R230Hfs44 was identified in both bone marrow and control cells (buccal swab) at MDS diagnosis, and he was diagnosed with monocytopenia* and mycobacterial infection (MonoMAC) syndrome.
27232273	FEMALE	Child
	Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency.
	Koegel AK, Hofmann I, Moffitt K, Degar B, Duncan C, Tubman VN. Pediatr Blood Cancer. 2016;63(10):1844-7.
	We report a unique case of a patient who presented with B-cell acute lymphoblastic leukemia (B-ALL) and was subsequently diagnosed with monocytopenia and mycobacterium avium complex (MonoMAC) syndrome/GATA2 haploinsufficiency.
25619630 (4402062)	MIXED_SAMPLE	Child
	Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.
	Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP, Jackson AE, Holland SM, Patnaik MM. Cancer Med. 2015;4(4):490-9.
	Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups.
26716079 (4672090)	OTHER
	Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.
	Lubking A, Vosberg S, Konstandin NP, Dufour A, Graf A, Krebs S, Blum H, Weber A, Lenhoff S, Ehinger M, Spiekermann K, Greif PA, Cammenga J. Leuk Res Rep. 2015;4(2):72-5.
	Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML).
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.
22430350	FEMALE	Young Adult
	GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia.
	Ishida H, Imai K, Honma K, Tamura S, Imamura T, Ito M, Nonoyama S. Eur J Pediatr. 2012;171(8):1273-6.
	The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes.