Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome - PubMed (original) (raw)

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C, de Oliveira-Júnior EB, Rosain J, Rapaport F, Deswarte C, Guérin A, Sajjath SM, Zhou YJ, Marot S, Lozano C, Branco L, Fernández-Hidalgo N, Lew DB, Brunel AS, Thomas C, Launay E, Arias AA, Cuffel A, Monjo VC, Neehus AL, Marques L, Roynard M, Moncada-Vélez M, Gerçeker B, Colobran R, Vigué MG, Lopez-Herrera G, Berron-Ruiz L, Méndez NHS, O'Farrill Romanillos P, Le Voyer T, Puel A, Bellanné-Chantelot C, Ramirez KA, Lorenzo-Diaz L, Alejo NR, de Diego RP, Condino-Neto A, Mellouli F, Rodriguez-Gallego C, Witte T, Restrepo JF, Jobim M, Boisson-Dupuis S, Jeziorski E, Fieschi C, Vogt G, Donadieu J, Pasquet M, Vasconcelos J, Ardeniz FO, Martínez-Gallo M, Campos RA, Jobim LF, Martínez-Barricarte R, Liu K, Cobat A, Abel L, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. J Clin Immunol. 2021 Apr;41(3):639-657. doi: 10.1007/s10875-020-00930-3. Epub 2021 Jan 8. J Clin Immunol. 2021. PMID: 33417088 Free PMC article.

Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report.

Haraguchi M, Harada N, Watanabe J, Yoshikawa H, Shirai Y, Komura M, Koyama M, Ito J, Tsukune Y, Horimoto Y, Hayashi T, Nagaoka T, Uekusa T, Takahashi K. Haraguchi M, et al. BMC Infect Dis. 2021 May 29;21(1):502. doi: 10.1186/s12879-021-06203-7. BMC Infect Dis. 2021. PMID: 34051752 Free PMC article.