A mutation in TTF1/NKX2. 1 is associated with familial neuroendocrine cell hyperplasia of infancy
LR Young, GH Deutsch, RE Bokulic, AS Brody… - Chest, 2013 - Elsevier
Background Neuroendocrine cell hyperplasia of infancy (NEHI) is a childhood diffuse lung
disease of unknown etiology. We investigated the mechanism for lung disease in a subject
whose clinical, imaging, and lung biopsy specimen findings were consistent with NEHI; the
subject's extended family and eight other unrelated patients with NEHI were also
investigated. Methods The proband's lung biopsy specimen (at age 7 months) and serial CT
scans were diagnostic of NEHI. Her mother, an aunt, an uncle, and two first cousins had …
disease of unknown etiology. We investigated the mechanism for lung disease in a subject
whose clinical, imaging, and lung biopsy specimen findings were consistent with NEHI; the
subject's extended family and eight other unrelated patients with NEHI were also
investigated. Methods The proband's lung biopsy specimen (at age 7 months) and serial CT
scans were diagnostic of NEHI. Her mother, an aunt, an uncle, and two first cousins had …