Top

Published in:

01-07-2006 | Original Paper

Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency

Authors: Maria N. Tsolia, Ariane Chapgier, Polyxeni Taprantzi, Marina Servitzoglou, Ioannis Tassios, Nikolaos Spyridis, Fotini Papageorgiou, Orchidée Filipe Santos, Jean-Laurent Casanova, Panayotis Spyridis

Published in: European Journal of Pediatrics | Issue 7/2006

Abstract

We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing, poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum–Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-γ receptor 1 gene (IFNγR1) revealed that he was homozygous for a novel null mutation, 453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNγR1 deficiency. The spectrum of IFNγR1 genotypes associated with this immunological disorder is expanding.

Altare F, Lammas D, Revy P, Jouanguy E, Doffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS (1998) Inherited interleukin 12 deficiency in a child with Bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J Clin Investig 102:2035–2040PubMedCrossRef

Casanova JL, Abel L (2002) Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 20:581–620CrossRefPubMed

Casanova JL, Blanche S, Emile JF, Jouanguy E, Lamhamedi S, Altare F, Stephan JL, Bernaudin F, Bordigoni P, Turck D, Lachaux A, Albertini M, Bourillon M, Dommergues JP, Pocidalo MA, Le Deist F, Gaillard JL, Griscelli C, Fischer A (1996) Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study. Pediatrics 98:774–778PubMed

Dorman SE, Holland SM (2000) Interferon-γ and interleukin 12 pathway defects and human disease. Cytokine Growth Factor Rev 11:321–333CrossRefPubMed

Dorman SE, Holland SM (1998) Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest 101:2364–2369PubMedCrossRef

Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, Holland SM (2004) Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet 264:2113–2121CrossRef

Dorman SE, Uzel G, Roesler J, Bradley JS, Bastian J, Billman G, King S, Filie A, Schermerhorn J, Holland SM (1999) Viral infections in interferon-γ receptor deficiency. J Pediatr 135:640–643CrossRefPubMed

de Jong R, Altare F, Haagen IA, Elferink DG, Boer T, van Breda Vriesman PJ, Kabel PJ, Draaisma JM, van Dissel JT, Kroon FP, Casanova JL, Ottenhoff TH (1998) Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280:1435–1438CrossRefPubMed

Gollob JA, Veenstra KG, Jyonouchi H, Kelly AM, Ferrieri P, Panka DJ, Altare F, Fieschi C, Casanova JL, Frank DA, Mier JW (2000) Impairment of STAT activation by IL-12 in a patient with atypical mycobacterial and staphylococcal infections. J Immunol 165:4120–4126PubMed

10.

Hoyt L, Oleske J, Holand B, Connor E (1992) Non-tuberculous mycobacteria in children with acquired immunodeficiency syndrome. Pediatr Infect Dis J 11:354–360PubMedCrossRef

11.

Interlied CB, Salfinger M (1999) Antimycobacterial agents and susceptibility tests. In: Murray PR, Baron EJ , Pfaller MA et al. (eds) Manual of clinical microbiology, 7th edn. American Society for Microbiology. ASM Press, Washington DC

12.

Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL (1996) Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 335:1956–1961CrossRefPubMed

13.

Koscielniak E, de Boer T, Dupuis S, Naumann L, Casanova JL, Ottenhoff T (2003) Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency. Ped Infect Dis J 22:378–380CrossRef

14.

Larroche C, Mouthon L (2004) Pathogenesis of hemophagocytic syndrome. Autoimmun Rev 3:69–75CrossRefPubMed

15.

Levin M, Newport MJ, D’Souza S, Kalabalikis P, Brown IN, Lenicker HM, Agius PV, Davies EG, Thrasher A, Klein N, Blackwell JM (1995) Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet 343:79–83CrossRef

16.

Roesler J, Horwitz ME, Picard C, Bordigoni P, Davies G, Koscielniak E, Levin M, Veys P, Reuter U, Schulz A, Thiede C, Klingebiel T, Fischer A, Holland SM, Casanova JL, Friedrich W (2004) Hematopoietic stem cell transplantation for complete IFN-γ receptor deficiency: a multi-institutional survey. J Pediatr 145:806–812CrossRefPubMed

Title: Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency
Authors: Maria N. Tsolia
Ariane Chapgier
Polyxeni Taprantzi
Marina Servitzoglou
Ioannis Tassios
Nikolaos Spyridis
Fotini Papageorgiou
Orchidée Filipe Santos
Jean-Laurent Casanova
Panayotis Spyridis
Publication date: 01-07-2006
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 7/2006
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-006-0110-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 7/2006

CNS-manifestation of aspergillosis in an extremely low-birth-weight infant

Transient antiphospholipid antibodies associated with acute infections in children: a report of three cases and a review of the literature

Measurement of reticulocyte hemoglobin content to diagnose iron deficiency in Saudi children

Recent advances in vitamin E metabolism and deficiency

Maternal vitamin A deficiency and neonatal microphthalmia: complications of biliopancreatic diversion?

Human metapneumovirus infections cause similar symptoms and clinical severity as respiratory syncytial virus infections