Granulomatous lung disease in a patient with a family history of hematological disorders.

Granulomatous lung disease in a patient with a family history of hematological disorders. Sarcoidosis Vasc Diffuse Lung Dis. 2015;31(4):350-3 Authors: Overbeek M, Van de Loosdrecht A, Vonk-Noordegraaf A Abstract A 29-year old patient presented with granulomatous lung disease and a family history of myelodysplastic syndrome/acute myeloid leukemia. She appeared to be a carrier of a mutation in the transcription factor GATA2. The case adds to the recent described heterogeneous clinical manifestations and syndromes in which, against a background of hematologic disorders, GATA2 mutations have been demonstrated, such as the Monomac and Emberger syndromes. In patients with a granulomatous disease and a history of (familial) hematologic disorders, the occurence of GATA2 mutations should be considered, as to gain further insight in the occurrence of granulomatous disease in a possible distinct phenotype among GATA2 mutation carriers. PMID: 25591147 [PubMed - in process]
Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research