Table VI.
Primary and acquired immune deficiencies associated with disseminated non-tuberculous mycobacterial (NTM) infection
| Immunodeficiency | Inheritance | Disease onset | BCG infection | Systematic Salmonella infection | Other possible infection | Granuloma formation | Response to antimicrobial | Indication for immunotherapy | Prognosis |
|---|---|---|---|---|---|---|---|---|---|
| Early onset | |||||||||
| IFNGR1/R2 | |||||||||
| Complete | AR | Infancy/early childhood | Yes | Yes | Listeriosis, herpes virus, respiratory syncytial virus, parainfluenza virus infections, TB | No | Very poor | No | Poor |
| Partial | AR | Late childhood | Yes | Yes | TB | No report | Favourable | Variable | Good |
| Partial | AR | Late childhood/adolescence | Yes | Yes | Histoplasmosis, TB | Yes | Favourable | Yes | Good |
| IL12B | AR | Infancy/early childhood | Yes (97%) | Yes (25%) | CMC, disseminated TB, nocardia, Klebsiella spp. infection | Yes | Favourable | Yes | Fair |
| IL12RB1 | AR | Early childhood | Yes (76%) | Yes (43%) | TB, CMC (24%), Klebsiella spp. infection | Yes | Favourable | Yes | Fair |
| STAT1 LOF | |||||||||
| Complete | AR | Infancy (die early without HSCT) | Yes | No | TB, fulminant viral infection (mainly herpes) | Yes | Poor | No | Poor |
| Partial | AR | Infancy/early childhood/adolescence | Yes | Yes (50%) | Severe, curable viral infection (mainly herpes) | No report | Favourable | Yes | Fair |
| Partial | AD | Infancy/early/childhood/adolescence | Yes | No | TB | Yes | Favourable | Yes | Good |
| IRF8 | AR | Infancy | Yes | No | CMC | Poorly formed | Poor | No | Poor |
| IRF8 | AD | Late infancy | Yes | No | No report | Yes | Favourable | No | Good |
| ISG15 | AR | Infancy | Yes | Yes | No report | No report | Favourable | Yes | Good |
| NEMO | XR | Early to late childhood | Yes | No | Invasive Hib infection TB | Yes | Variable | Yes | Fair |
| CYBB | XR | Infancy/early childhood | Yes | No | TB | Yes | Fair | No | Fair |
| Late onset | |||||||||
| GATA2 | AD | Late childhood/adulthood | No | No | HPV, CMV, EBV, Clostridium difficile infections, histoplasmosis, aspergillosis | Yes | Poor | Yes | Poor |
| Anti-IFN-γ antibodies | Acquired | Young adult to elderly | No | Yes | Salmonella spp., Penicillium spp., Histoplasma spp., Cryptococcus spp., B. pseudomallei, VZV, CMV infections | Yes | Poor | No | Fair |
AR, autosomal recessive; AD, autosomal dominant; CMC, chronic mucocutaneous candidiasis; LOF, loss of function; HSCT, haemopoietic stem cell transplantation; Hib, Haemophilis influenzae type b, HPV, human papillomavirus; CMV, cytomegalovirus; EBV, Epstein-Barr virus; VZV, varicella zoster virus; BCG, bacille Calmette-Guerin; B. pseudomallei, Burkholderia pseudomallei; IFN-γ, interferon-gamma; XR, X-linked recessive; IFNGR, interferon-gamma recapter; IL, interleukin; STAT, signal transducer and activator of transcription; IRF, interferon regulatory factor; ISG, interferon-stimulated genes; NEMO, nuclear factor kappa-light-chain-enhancer of activated B cells essential modulator; GATA, transcription factor implicated in early hematopoietic, lymphatic and vascular development. Note: Investigations for GATA2 deficiency should be done in patients with myelodysplastic syndrome and mycobacterial disease. Source: Reproduced with permission from Ref. 73