Diagnosis and management of inheritable disorders of interferon-γ-mediated immunity

Immunology and Allergy Clinics of North America

Volumn 20, Issue 1, 2000, Pages 65-76

  Picard, Capucine ^a   Baud, Olivier ^b   Fieschi, Claire ^a   Casanova, Jean Laurent ^a,b  

^a Faculté Necker   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BCG VACCINE; GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR;

BONE MARROW TRANSPLANTATION; CHILD; CLINICAL ARTICLE; GENE MUTATION; GENE SEQUENCE; GENE TRANSFER; GENETIC DISORDER; GENETIC PREDISPOSITION; GRANULOMA; HUMAN; IMMUNE DEFICIENCY; MYCOBACTERIUM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; VIRUS INFECTION;

EID: 0034000529     PISSN: 08898561     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8561(05)70134-X     Document Type: Article

References (32)

1. F. Altare A. Durandy D. Lammas Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency Science 280 1998 1432 1435
2. F. Altare E. Jouanguy S. Lamhamedi Mendelian susceptibility to mycobacterial infections in man Curr Opin Immunol 10 1998 413 417
3. F. Altare E. Jouanguy S. Lamhamedi-Cherradi A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child Am J Hum Genet 62 1998 723 726
4. F. Altare E. Jouanguy M. Newport IFN-γR1, a human mycobacterial susceptibility candidate gene Res Infect Dis/Bull Inst Pasteur 95 1997 143 146
5. F. Altare D. Lammas P. Revy Inherited interleukin-12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis –disseminated infection J Clin Invest 102 1998 2035 2040
6. J.L. Casanova S. Blanche J.F. Emile Idiopathic disseminated bacillus Calmette-Guerin infection: A French national retrospective study Pediatrics 98 1996 774 778
7. J.L. Casanova E. Jouanguy S. Lamhamedi Immunological conditions of children with BCG disseminated infection Lancet 346 1995 581
8. J.L. Casanova M. Newport A. Fischer Inherited interferon gamma receptor deficiency Ochs H.D. Smith C.I.E. Puck J.M. Primary Immunodeficiency Diseases 1999 Oxford University Press New York 209 221
9. J.L. Casanova H.D. Ochs Interferon-γ receptor deficiency An expanding phenotype? J Pediatr 135 1999 543 545
10. de Jong R. F. Altare I.A. Haagen Severe mycobacterial and salmonella infections in interleukin-12 receptor–deficient patients Science 280 1998 1435 1438
11. R. Döffinger E. Jouanguy F. Altare Inheritable defects in IL-12– and IFN-γ–mediated immunity and the Th1/Th2 paradigm in man Allergy 54 1999 409 412
12. R. Döffinger E. Jouanguy S. Dupuis Partial interferon-γ receptor signalling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection J Infect Dis 2000
13. S.E. Dorman S.M. Holland Mutation in the signal-transducing chain of the interferon-γ receptor and susceptibility to mycobacterial infection J Clin Invest 101 1998 2364 2369
14. S.E. Dorman G. Uzel J. Roesler Viral infections in interferon-γ receptor deficiency J Pediatr 135 1999 640 643
15. J.F. Emile N. Patey F. Altare Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection J Pathol 181 1997 25 30
16. D.M. Frucht S.M. Holland Defective monocyte costimulation for IFN-γ production in familial disseminated Mycobacterium avium complex infection: Abnormal IL-12 regulation J Immunol 157 1996 411 416
17. Fleisher T.A. S.E. Dorman J.A. Anderson Detection of intracellular phosphorylated STAT-1 by flow cytometry Clin Immunol 90 1999 425 430
18. S.A. Holland S.E. Dorman A. Kwon Abnormal regulation of interferon-γ, interleukin-12, and tumor necrosis factor-α in interferon-γ receptor 1 deficiency J Infect Dis 178 1998 1095 1104
19. E. Jouanguy F. Altare S. Lamhamedi Interferon-γ receptor deficiency in an infant with fatal bacille Calmette-Guerin infection N Engl J Med 335 1996 1956 1961
20. E. Jouanguy F. Altare S. Lamhamedi-Cherradi Infections in IFN-γR1–deficient children J Interferon Cytokine Res 17 1997 583 587
21. E. Jouanguy R. Döffinger S. Dupuis IL-12 and IFN-γ in host defense against mycobacteria and salmonella in mice and men Curr Opin Immunol 11 1999 346 351
22. E. Jouanguy S. Lamhamedi-Cherradi F. Altare Partial interferon-γ receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis J Clin Invest 100 1997 2658 2664
23. E. Jouanguy S. Lamhamedi-Cherradi D. Lammas A human IFN-γR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection Nature Genet 21 1999 370 378
24. Jouanguy E, Pallier A, Dupuis S, et al: A novel form of complete IFN-γR1 deficiency: Cell-surface receptors that do not bind IFN-γ. J Clin Invest, submitted
25. S. Lamhamedi E. Jouanguy F. Altare Interferon-γ receptor deficiency: Relationship between genotype, environment, and phenotype Int J Mol Med 1 1998 415 418
26. M. Levin M.J. Newport S. D'Souzal Familial disseminated atypical mycobacterial infection in childhood: A human mycobacterial susceptibility gene? Lancet 345 1995 79 83
27. V.A. McKusick Mendelian Inheritance in Man: Catalogs of Human Genes and Genetic Disorders 11th ed 1994 Johns Hopkins University Press Baltimore
28. M.J. Newport C.M. Huxley S. Huston A mutation in the interferon-γ receptor gene and susceptibility to mycobacterial infection N Engl J Med 335 1996 1941 1949
29. T. Ottenhoff D. Kumararatne J.L. Casanova Novel immunodeficiencies reveal the essential role of type I cytokines in immunity to intracellular bacteria Immunol Today 19 1998 491 494
30. C. Pierre-Audigier E. Jouanguy S. Lamhamedi Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon-γ receptor deficiency Clin Infect Dis 24 1997 982 984
31. J. Roesler B. Kofink J. Wendisch Recurrent mycobacterial and Listeria infections in a child with interferon-γ receptor deficiency Exp Haematol 27 1999 1368 1374
32. World Health Organization Primary immunodeficiency diseases Clin Exp Immunol 109 1997 1 28