期刊
REVISTA PORTUGUESA DE PNEUMOLOGIA
卷 20, 期 5, 页码 273-278出版社
ELSEVIER DOYMA SL
DOI: 10.1016/j.rppneu.2013.08.006
关键词
Alveolar Pulmonary Proteinosis; Immunodeficiency; Parenchymal lung disease; Systemic disease with lung involvement
Case report of a male patient with a five-decade follow-up history in a tertiary care hospital distinguished for malabsorption syndrome, failure-to-thrive, meningitis and recurrent bacterial, fungal and mycobacterial pulmonary infections. Additionally, he developed epidermodysplasia verruciformis, several in situ spinocellular carcinomas and an uncharacteristic parenchymal lung disease. Surgical lung biopsy suggested pulmonary alveolar proteinosis with fibrotic change. Retrospectively, severe monocytopenia had been overlooked in the past, as well as low B and NK cell blood counts. Flow cytometry confirmed the absence of the previous cell subsets along with an undetectable population of dendritic blood cells. Dendritic cell, monocyte, B and NK lymphoid Human Deficiency Syndrome (DCMLS) is a novel rare immunodeficiency described in 2010, linked to GATA-2 mutation. This syndrome should be highlighted as a rare cause of acquired PAP, with a radiological pattern encompassing potential fibrotic change. Failure to recognize nnonocytopenia may impede the chance to diagnose. (C) 2013 Sociedade Portuguesa de Pneumologia. Published by Elsevier Espana, S.L.U. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据