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

• DOI: 10.1186/s12890-015-0083-2
• Publication Date: 2015-08-11T10:08:12Z
• Authors: Matthias Griese; Ralf Zarbock; Ulrich Costabel; Jenna Hildebrandt; Dirk Theegarten; Michael Albert; Antonia Thiel; Andrea Schams; Joanna Lange; Katazyrna Krenke; Traudl Wesselak; Carola Schön; Matthias Kappler; Helmut Blum; Stefan Krebs; Andreas Jung; Carolin Kröner; Christoph Klein; Ilaria Campo; Maurizio Luisetti; Francesco Bonella
• Keywords: Pulmonary alveolar proteinosis; GATA2; Hematologic disease; Juvenile myelomonocytic leukemia; Hematologic disorders

The majority of cases with severe pulmonary alveolar proteinosis (PAP) are caused by auto-antibodies against GM-CSF. A multitude genetic and exogenous causes responsible for few other cases. Goal this study was to determine the prevalence GATA2 deficiency in children adults PAP hematologic disorders.Of 21 patients GM-CSF-autoantibody negative PAP, 13 had no organ involvement 8 some form disorder. latter were sequenced GATA2.Age at start ranged from 0.3 64 years, 4 children. In half subjects GATA2-sequence variations found, two which considered disease causing. Those typical phenotype deficiency, one whom additionally showed a previously undescribed feature - cholesterol pneumonia. Hematologic disorders included chronic myeloic leukemia, juvenile myelo-monocytic lymphoblastic sideroblastic anemia myelodysplastic syndrome (MDS). year old child MDS DiGeorge Syndrome Type 2 rescued repetitive whole lung lavages her cured heterologous stem cell transplant.In GM-CSF close cooperation between pneumologists hemato-oncologists is needed diagnose underlying diseases, mutations transcription factor GATA2. Treatment as well transplant may be successful.