MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature

Antzeko izenburuak

• GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
  nork: Hsu, Amy P., et al.
  Argitaratua: (2013)
• Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
  nork: Hsu, Amy P., et al.
  Argitaratua: (2011)
• Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency
  nork: Ding, Ling-Wen, et al.
  Argitaratua: (2016)
• Secondary pulmonary alveolar proteinosis in GATA-2 deficiency (MonoMAC syndrome)
  nork: Raziq, Fazal I, et al.
  Argitaratua: (2020)
• Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
  nork: Kazenwadel, Jan, et al.
  Argitaratua: (2012)