Human immunodeficiencies that predispose to intracellular bacterial infections

Current Opinion in Rheumatology

Volumn 17, Issue 4, 2005, Pages 440-446

  Doffinger, Rainer ^a   Patel, Smita ^a,b   Kumararatne, Dinakantha S ^a,c  

^a Department of Clinical Biochemistry and Immunology ^*  (United Kingdom)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Human immunodeficiency; Intracellular bacterial infection

Indexed keywords

ADALIMUMAB; AUTOANTIBODY; CORTICOSTEROID; ETANERCEPT; GAMMA INTERFERON; GAMMA INTERFERON ANTIBODY; GAMMA INTERFERON RECEPTOR; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INFLIXIMAB; INTERLEUKIN 12; INTERLEUKIN 23; INTERLEUKIN RECEPTOR; METHOTREXATE; NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; PROTEIN P40; TUMOR NECROSIS FACTOR ALPHA RECEPTOR; TUMOR NECROSIS FACTOR ANTIBODY;

CELL FUNCTION; CELL INTERACTION; CELLULAR IMMUNODEFICIENCY; COMPLEMENT DEFICIENCY; CROHN DISEASE; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE SEVERITY; GENE MUTATION; GRANULOMATOUS INFLAMMATION; HEREDITY; HUMAN; HUMORAL IMMUNE DEFICIENCY; INFECTION RISK; MACROPHAGE ACTIVATION; MYCOBACTERIOSIS; MYCOBACTERIUM; NEUTROPHIL; NONHUMAN; PHAGOCYTE; PRIORITY JOURNAL; PROTEIN FUNCTION; RECEPTOR BINDING; REVIEW; RHEUMATOID ARTHRITIS; SALMONELLA; SALMONELLOSIS; SIGNAL TRANSDUCTION; T LYMPHOCYTE; TRANSCRIPTION INITIATION; TUBERCULOSIS;

DISEASE SUSCEPTIBILITY; HUMANS; IMMUNOCOMPROMISED HOST; IMMUNOLOGIC DEFICIENCY SYNDROMES; MYCOBACTERIUM INFECTIONS; SALMONELLA INFECTIONS;

EID: 23044451227     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.bor.0000166387.70475.dd     Document Type: Review

References (38)

1. Sonnenberg P, Glynn JR, Fielding K, et al. How soon after infection with HIV does the risk of tuberculosis start to increase? A retrospective cohort study in South African gold miners. J Infect Dis 2005; 191:150-158.
2. Gardam MA, Keystone EC, Menzies R, et al. Anti-tumour necrosis factor agents and tuberculosis risk: mechanisms of action and clinical management. Lancet Infect Dis 2003; 3:148-155.
3. Flynn JL, Chan J. Immunology of tuberculosis. Annu Rev Immunol 2001; 19:93-129.
4. Notarangelo L, Casanova JL, Fischer A, et al. Primary immunodeficiency diseases: an update. J Allergy Clin Immunol 2004; 114:677-687. This paper provides a classification of currently defined primary immunodeficiency diseases.
5. Fischer A. Severe combined immunodeficiencies (SCID). Clin Exp Immunol 2000; 122:143-149.
6. Stephan JL, Vlekova V, Le Deist F, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 1993; 123:564-572.
7. John GT, Shankar V. Mycobacterial infections in organ transplant recipients. Semin Respir Infect 2002; 17:274-283.
8. Sahn SA, Lakshminarayan S. Tuberculosis after corticosteroid therapy. Br J Dis Chest 1976; 70:195-205.
9. Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 2000; 79:170-200.
10. Ahluwalia J, Tinker A, Clapp LH, et al. The large-conductance Ca2+-activated K+ channel is essential for innate immunity. Nature 2004; 427:853-858.
11. Reeves EP, Lu H, Jacobs HL, et al. Killing activity of neutrophils is mediated through activation of proteases by K+ flux. Nature 2002; 416:291-297.
12. Andrews T, Sullivan KE. Infections in patients with inherited defects in phagocytic function. Clin Microbiol Rev 2003; 16:597-621.
13. Casanova JL, Jouanguy E, Lamhamedi S, et al. Immunological conditions of children with BCG disseminated infection. Lancet 1995; 346:581.
14. Trinchieri G. Interleukin-12 and the regulation of innate resistance and adaptive immunity. Nat Rev Immunol 2003; 3:133-146.
15. Farrar MA, Schreiber RD. The molecular cell biology of interferon-gamma and its receptor. Annu Rev Immunol 1993; 11:571-611.
16. van de Vosse E, Hoeve MA, Ottenhoff TH. Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae. Lancet Infect Dis 2004; 4:739-749. This paper summarises the current knowledge of key cellular mechanisms required for protection against intracellular bacteria and the genetic defects of these pathways.
17. Casanova JL, Abel L. The human model: a genetic dissection of immunity to infection in natural conditions. Nat Rev Immunol 2004; 4:55-66. This paper discusses strategies for dissecting genetic mechanisms influencing susceptibility to microbial infection in humans.
18. Dorman SE, Picard C, Lammas D, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 2004; 364:2113-2121. This seminal publication summarises the clinical consequences of IFNγ receptor defects and the correlation between the nature of the molecular defect and clinical outcome.
19. Jouanguy E, Lamhamedi-Cherradi S, Altare F, et al. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J Clin Invest 1997; 100:2658-2664.
20. Doffinger R, Jouanguy E, Dupuis S, et al. Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guerin and Mycobacterium abscessus infection. J Infect Dis 2000; 181:379-384.
21. Picard C, Fieschi C, Altare F, et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 2002; 70:336-348.
22. Fieschi C, Dupuis S, Catherinot E, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 2003; 197:527-535.
23. Lammas DA, De Heer E, Edgar JD, et al. Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway. Int J Exp Pathol 2002; 83:1-20.
24. Dupuis S, Dargemont C, Fieschi C, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 2001; 293:300-303.
25. Dupuis S, Jouanguy E, Al-Hajjar S, et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 2003; 33:388-391.
26. MacLennan C, Fieschi C, Lammas DA, et al. Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis 2004; 190:1755-1757.
27. Puel A, Picard C, Ku CL, et al. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol 2004; 16:34-41.
28. Orange JS, Jain A, Ballas ZK, et al. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol 2004; 113:725-733.
29. Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001; 27:277-285.
30. Dai Y-S, Liang MG, Gellis SE, et al. Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-(kappa)B essential modulator mutation, with or without ectodermal dysplasia. J Am Acad Dermatol 2004; 51:718-722.
31. Courtois G, Smahi A, Reichenbach J, et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 2003; 112:1108-1115.
32. Janssen R, van Wengen A, Hoeve MA, et al. The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med 2004; 200:559-568.
33. Picard C, Puel A, Bonnet M, et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 2003; 299:2076-2079.
34. Medvedev AE, Lentschat A, Kuhns DB, et al. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J Exp Med 2003; 198:521-531.
35. Wallis RS, Broder MS, Wong JY, et al. Granulomatous infectious diseases associated with tumor necrosis factor antagonists. Clin Infect Dis 2004; 38:1261-1265. This key publication summarises the epidemiologic association between the use of therapeutic agents causing TNF receptor blockade and intracellular bacterial infections. It highlights the higher risk of tuberculosis in patients treated with infliximab than in those receiving etanercept. The data on overall risk of tuberculosis in patients in the United States receiving TNF blockers is overestimated in this paper, but the error is corrected in reference 36.
36. Wallis RS, Broder M, Wong J, Beenhouwer D. Granulomatous infections due to tumor necrosis factor blockade: correction. Clin Infect Dis 2004; 39:1254-1255.
37. Hoflich C, Sabat R, Rosseau S, et al. Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans. Blood 2004; 103:673-675.
38. Doffinger R, Helbert MR, Barcenas-Morales G, et al. Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis 2004; 38:e10-e14.