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

ABSTRACT:

Background

The majority of cases with severe pulmonary alveolar proteinosis (PAP) are caused by auto-antibodies against GM-CSF. A multitude of genetic and exogenous causes are responsible for few other cases. Goal of this study was to determine the prevalence of GATA2 deficiency in children and adults with PAP and hematologic disorders.

Methods

Of 21 patients with GM-CSF-autoantibody negative PAP, 13 had no other organ involvement and 8 had some form of hematologic disorder. The latter were sequenced for GATA2.

Results

Age at start of PAP ranged from 0.3 to 64 years, 4 patients were children. In half of the subjects GATA2-sequence variations were found, two of which were considered disease causing. Those two patients had the typical phenotype of GATA2 deficiency, one

SUBMITTER: Griese M 

PROVIDER: S-EPMC4542098 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature