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GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

Matthias Griese1, Ralf Zarbock2, Ulrich Costabel3

  • 1Hauner Children's University Hospital, Ludwig-Maximilians University, Member of the German Center for Lung Research, Lindwurmstr. 4, 80337, Munich, Germany. matthias.griese@med.uni-muenchen.de.

BMC Pulmonary Medicine
|August 13, 2015
PubMed

Insights

GATA2 deficiency is prevalent in patients with severe pulmonary alveolar proteinosis (PAP) lacking GM-CSF auto-antibodies. Early diagnosis and multidisciplinary care are crucial for managing these rare hematologic and pulmonary disorders.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Hematology

Background:

  • Pulmonary alveolar proteinosis (PAP) is often caused by GM-CSF auto-antibodies.
  • Genetic and exogenous factors contribute to rare PAP cases.
  • GATA2 deficiency is a potential underlying cause in PAP patients.

Purpose of the Study:

  • To investigate the prevalence of GATA2 deficiency in pediatric and adult patients with PAP.
  • To identify GATA2 mutations in PAP patients with and without hematologic disorders.

Main Methods:

  • Studied 21 patients with GM-CSF auto-antibody negative PAP.
  • Sequenced GATA2 in 8 patients with co-existing hematologic disorders.

Main Results:

  • GATA2 variations found in 50% of subjects, with two pathogenic mutations identified.
  • Identified typical GATA2 deficiency phenotype and a novel cholesterol pneumonia.
  • Observed various hematologic disorders including leukemia and myelodysplastic syndrome (MDS).

Conclusions:

  • GATA2 deficiency is a significant underlying cause of severe PAP in children and adults.
  • Multidisciplinary collaboration between pulmonologists and hemato-oncologists is essential for diagnosis.
  • Whole lung lavages and stem cell transplantation show potential therapeutic success.
Abstract

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