publication . Article . 2016

MST1R mutation as a genetic cause of Lady Windermere syndrome

Katharina L. Becker; Peer Arts; Martin Jaeger; Theodorus S. Plantinga; Christian Gilissen; Arjan van Laarhoven; Jakko van Ingen; Joris A. Veltman; Leo A.B. Joosten; Alexander Hoischen; ...
Open Access English
  • Published: 19 Dec 2016
  • Publisher: UK : European Respiratory Society
  • Country: United States
Abstract
The 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)-γ–interleukin (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]. Howe...
Subjects
free text keywords: Lady Windermere syndrome, mutation, Pulmonary and Respiratory Medicine, MST1R, Diabetes mellitus, medicine.disease, medicine, medicine.disease_cause, Immunology, Nontuberculous mycobacteria, biology.organism_classification, biology, Interferon gamma, medicine.drug, business.industry, business
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publication . Article . 2016

MST1R mutation as a genetic cause of Lady Windermere syndrome

Katharina L. Becker; Peer Arts; Martin Jaeger; Theodorus S. Plantinga; Christian Gilissen; Arjan van Laarhoven; Jakko van Ingen; Joris A. Veltman; Leo A.B. Joosten; Alexander Hoischen; ...