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Published in: Virchows Archiv 1/2007

01-07-2007 | Case Report

Hepatoportal venopathy due to disseminated Mycobacterium avium complex infection in a child with IFN-γ receptor 2 deficiency

Authors: Amy V. Rapkiewicz, Smita Y. Patel, Steven M. Holland, David E. Kleiner

Published in: Virchows Archiv | Issue 1/2007

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Abstract

The control of intracellular microorganisms such as mycobacteria is largely dependent on the adaptive immune response, specifically the interaction of T helper cells and antigen presenting cells such as macrophages. The interferon gamma (IFN-γ) pathway activation is crucial for containment and killing of mycobacteria, as evidenced by the fact that defects in this pathway often result in profound infections with both tuberculous and non-tuberculous mycobacteria. We herein report a case of a child with autosomal recessive IFN-γ receptor 2 (IFN-γR2) deficiency who developed hepatic venopathy secondary to disseminated Mycobacterium avium complex (MAC) infection.
Literature
1.
go back to reference Bhatt N, Baran CP, Allen J, Magro C, Marsh CB (2006) Promising pharmacologic innovations in treating pulmonary fibrosis. Curr Opin Pharmacol 6(3):284–292PubMedCrossRef Bhatt N, Baran CP, Allen J, Magro C, Marsh CB (2006) Promising pharmacologic innovations in treating pulmonary fibrosis. Curr Opin Pharmacol 6(3):284–292PubMedCrossRef
2.
go back to reference Bonilla N, Barget N, Andrieu M, Roulot D, Letoumelin P, Grando V, Trinchet JC, Ganne-Carrie N, Beaugrand M, Deny P, Choppin J, Guillet J, Ziol M (2006) Interferon gamma-secreting HCV-specific CD8+ T cells in the liver of patients with chronic C hepatitis: relation to liver fibrosis—ANRS HC EP07 study. J Viral Hepatitis 13(7):474–481CrossRef Bonilla N, Barget N, Andrieu M, Roulot D, Letoumelin P, Grando V, Trinchet JC, Ganne-Carrie N, Beaugrand M, Deny P, Choppin J, Guillet J, Ziol M (2006) Interferon gamma-secreting HCV-specific CD8+ T cells in the liver of patients with chronic C hepatitis: relation to liver fibrosis—ANRS HC EP07 study. J Viral Hepatitis 13(7):474–481CrossRef
3.
go back to reference Dorman SE, Holland SM (1998) Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 101(11):2364–2369PubMedCrossRef Dorman SE, Holland SM (1998) Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 101(11):2364–2369PubMedCrossRef
4.
go back to reference Dorman SE, Holland SM (2000) Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev 11(4):321–333PubMedCrossRef Dorman SE, Holland SM (2000) Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev 11(4):321–333PubMedCrossRef
5.
go back to reference Fonga-Djimi HS, Gottrand F, Bonnevalle M, Farriaux JP (1995) A fatal case of portal hypertension complicating systemic mastocytosis in an adolescent. Eur J Pediatr 154(10):819–821PubMedCrossRef Fonga-Djimi HS, Gottrand F, Bonnevalle M, Farriaux JP (1995) A fatal case of portal hypertension complicating systemic mastocytosis in an adolescent. Eur J Pediatr 154(10):819–821PubMedCrossRef
6.
go back to reference Haverkamp MH, van Dissel JT, Holland SM (2006) Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling. Microbes Infect/Institut Pasteur 8(4):1157–1166 Haverkamp MH, van Dissel JT, Holland SM (2006) Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling. Microbes Infect/Institut Pasteur 8(4):1157–1166
7.
go back to reference Hillaire S, Valla D, Lebrec D (1997) Noncirrhotic portal hypertension. Clin Liver Dis 1(1):223–240, xiiiPubMedCrossRef Hillaire S, Valla D, Lebrec D (1997) Noncirrhotic portal hypertension. Clin Liver Dis 1(1):223–240, xiiiPubMedCrossRef
8.
go back to reference Holland SM, Dorman SE, Kwon A, Pitha-Rowe IF, Frucht DM, Gerstberger SM, Noel GJ, Vesterhus P, Brown MR, Fleisher TA (1998) Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. J Infect Dis 178(4):1095–1104PubMedCrossRef Holland SM, Dorman SE, Kwon A, Pitha-Rowe IF, Frucht DM, Gerstberger SM, Noel GJ, Vesterhus P, Brown MR, Fleisher TA (1998) Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency. J Infect Dis 178(4):1095–1104PubMedCrossRef
9.
go back to reference Holland SM (2000) Cytokine therapy of mycobacterial infections. Adv Intern Med 45:431–452PubMed Holland SM (2000) Cytokine therapy of mycobacterial infections. Adv Intern Med 45:431–452PubMed
10.
11.
go back to reference Huh JJ, Panther LA (2001) Mycobacterium avium complex peritonitis in an AIDS patient. Scand J Infect Dis 33(12):936–938PubMedCrossRef Huh JJ, Panther LA (2001) Mycobacterium avium complex peritonitis in an AIDS patient. Scand J Infect Dis 33(12):936–938PubMedCrossRef
12.
13.
go back to reference Jagadha V, Andavolu RH, Huang CT (1985) Granulomatous inflammation in the acquired immune deficiency syndrome. Am J Clin Pathol 84(5):598–602PubMed Jagadha V, Andavolu RH, Huang CT (1985) Granulomatous inflammation in the acquired immune deficiency syndrome. Am J Clin Pathol 84(5):598–602PubMed
14.
go back to reference Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondaneche MC, Dupuis S, Doffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL (1999) A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 21(4):370–378PubMedCrossRef Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondaneche MC, Dupuis S, Doffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL (1999) A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet 21(4):370–378PubMedCrossRef
15.
go back to reference Navarro RM, Mendes-Correa MC, Cavalheiro Nde P, Barone AA (2005) Clinical laboratory assessment of hepatitis C and HIV coinfected patients according to the antiretroviral therapy received. Rev Inst Med Trop Sao Paulo 47(1):13–17PubMed Navarro RM, Mendes-Correa MC, Cavalheiro Nde P, Barone AA (2005) Clinical laboratory assessment of hepatitis C and HIV coinfected patients according to the antiretroviral therapy received. Rev Inst Med Trop Sao Paulo 47(1):13–17PubMed
16.
go back to reference Navasa M, Feu F, Garcia-Pagan JC, Jimenez W, Llach J, Rimola A, Bosch J, Rodes J (1993) Hemodynamic and humoral changes after liver transplantation in patients with cirrhosis. Hepatology 17(3):355–360PubMed Navasa M, Feu F, Garcia-Pagan JC, Jimenez W, Llach J, Rimola A, Bosch J, Rodes J (1993) Hemodynamic and humoral changes after liver transplantation in patients with cirrhosis. Hepatology 17(3):355–360PubMed
17.
go back to reference Okuda K (2002) Non-cirrhotic portal hypertension: why is it so common in India? J Gastroenterol Hepatol 17(1):1–5PubMedCrossRef Okuda K (2002) Non-cirrhotic portal hypertension: why is it so common in India? J Gastroenterol Hepatol 17(1):1–5PubMedCrossRef
18.
go back to reference Rosenzweig SD, Dorman SE, Uzel G, Shaw S, Scurlock A, Brown MR, Buckley RH, Holland SM (2004) A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol 173(6):4000–4008PubMed Rosenzweig SD, Dorman SE, Uzel G, Shaw S, Scurlock A, Brown MR, Buckley RH, Holland SM (2004) A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. J Immunol 173(6):4000–4008PubMed
19.
go back to reference Ward CM, Jyonouchi H, Kotenko SV, Smirnov SV, Patel R, Aguila H, McSherry G, Dashefsky B, Holland SM (2007) Adjunctive treatment of disseminated Mycobacterium avium complex infection with interferon alpha-2b in a patient with complete interferon-gamma receptor R1 deficiency. Eur J Pediatr (in press) Ward CM, Jyonouchi H, Kotenko SV, Smirnov SV, Patel R, Aguila H, McSherry G, Dashefsky B, Holland SM (2007) Adjunctive treatment of disseminated Mycobacterium avium complex infection with interferon alpha-2b in a patient with complete interferon-gamma receptor R1 deficiency. Eur J Pediatr (in press)
Metadata
Title
Hepatoportal venopathy due to disseminated Mycobacterium avium complex infection in a child with IFN-γ receptor 2 deficiency
Authors
Amy V. Rapkiewicz
Smita Y. Patel
Steven M. Holland
David E. Kleiner
Publication date
01-07-2007
Publisher
Springer-Verlag
Published in
Virchows Archiv / Issue 1/2007
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-007-0427-2

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