Disease | Tests | Evidence linking to NTMLD |
Bronchiectasis, COPD, silicosis, pneumoconiosis, previous TB | HRCT | Cohort studies 24, 30, prevalence studies 22, 23, 26–28, case series 25, 29 |
Cystic fibrosis | Sweat chloride, CFTR genotyping | Cohort studies 33, case–control studies 34–39, prevalence studies 40–45 |
GORD | 24-h pH monitoring (and other diagnostic tests) | Two prevalence studies 46, 47 |
Deficiencies in IFN-γR1, IFN-γR2, IL-12, IL-12R | Tests of IFN-γ production in response to mycobacterial antigens, other specialised immunological tests, genotyping | Case reports and series 48–52; no evidence for isolated lung disease |
STAT1 deficiency | Tests of cellular response to exogenous IFN | Case reports 53, 54; no evidence for isolated lung disease |
Chronic granulomatous disease | Tests of neutrophil function (e.g. nitroblue tetrazolium) | One case report 55 |
HLA types associated with NTM disease | HLA genotyping | One prevalence study 56, one cohort study 57 |
SLC11A1 polymorphisms | SLC11A1 genotyping | One case series 58 |
CFTR heterozygosity | CFTR genotyping | Prevalence studies 59, 60, one case–control study 61 |
α1-AT deficiency | Serum α1-AT | No direct evidence |
VDR polymorphisms | VDR genotyping | One case series 62 |
Vitamin D deficiency | Serum vitamin D | No direct evidence |
Coeliac disease | Coeliac autoantibodies and serum IgA | No direct evidence |
HIV infection | HIV serology | Cohort studies 63, prevalence studies 64, case series 23, 65–68 |
Inhibitory anti-IFN-γ antibodies | Anti-IFN-γ antibodies | One case series 69 |
Only high-resolution computed tomography (HRCT) of the chest can be regarded as a routine clinically relevant test. Further study is required in order to determine whether or not specific indications can be found for the other tests listed. When interpreting the information regarding the type and strength of evidence for each risk factor, it should be borne in mind that the strength of association between many risk factors and NTM disease is unknown due to the lack of mandatory reporting of NTM infection. COPD: chronic obstructive pulmonary disease; TB: tuberculosis; GORD: gastro-oesophageal reflux disease; IFN-γR: interferon (IFN)-γ receptor; IL: interleukin; IL-12R: interleukin-12 receptor; STAT1: signal transducer and activator of transcription 1; HLA: human leukocyte antigen; SLC11A1, soluble carrier 11A1; CFTR: cystic fibrosis transmembrane conductance regulator; α1-AT: α1-antitrypsin; VDR: vitamin D receptor; Ig: immunoglobulin.