MST1R mutation as a genetic cause of Lady Windermere syndrome

[摘要] ExtractThe prevalence of pulmonary nontuberculous mycobacterial (pNTM) disease is increasing [1]. The most commonly isolated disease-causing NTMs belong to the Mycobacterium avium complex [1]. Susceptibility to and clinical manifestation of NTM disease are largely governed by the immune status of a person. Disseminated or extrapulmonary NTM infections are strongly associated with severe immunosuppression; such as those with frank defects in the interferon (IFN)-xcexb3xe2x80x93interleukin (IL)-12 axis [2]. Isolated pNTM is strongly associated with certain underlying conditions; such as cystic fibrosis; chronic obstructive pulmonary disease and primary ciliary dyskinesia [3; 4]. However; substantial numbers of pNTM patients have no apparent risk factors; and a significant proportion of them exhibit a body morphotype characterised by lifelong slender body habitus; pectus excavatum; scoliosis and mitral valve prolapse [5; 6]; also called the Lady Windermere syndrome. A modest reduction in IFN-xcexb3 production and an increase in transforming growth factor (TGF)-xcexb2 levels have been described [7xe2x80x9310]. Fowler etxc2xa0al. [11] quantified ciliary beat frequency of 58 pNTM patients and 40 controls and found reduced ciliary beat frequency in the pNTM patients. Szymanski etxc2xa0al. [12] performed whole-exome sequencing on patients with pNTM; their unaffected family members and a control group and concluded that pNTM is a multigenic disease; encompassing potential defects in proteins encoded by cilia genes; the cystic fibrosis transmembrane conductance regulator gene; connective tissue genes and certain immune-related genes.

[学科分类] 呼吸医学