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Cited by 377

The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

Open access
Jouanguy, E, Lamhamedi-Cherradi, S, Altare, F, Fondanèche, M C, Tuerlinckx, D, Blanche, S, Emile, J F, Gaillard, J L, Schreiber, R, Levin, M, Fischer, A, Hivroz, C, Casanova, J L·1997·Journal of Clinical Investigation
DOI 10.1172/jci119810
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Abstract

Complete interferon-gamma receptor 1 (IFNgammaR1) deficiency has been identified previously as a cause of fatal bacillus Calmette-Guérin (BCG) infection with lepromatoid granulomas, and of disseminated nontuberculous mycobacterial (NTM) infection in children who had not been inoculated with BCG. We report here a kindred with partial IFNgammaR1 deficiency: one child afflicted by disseminated BCG infection with tuberculoid granulomas, and a sibling, who had not been inoculated previously with BCG, with clinical tuberculosis. Both responded to antimicrobials and are currently well without prophylactic therapy. Impaired response to IFN-gamma was documented in B cells by signal transducer and activator of transcription 1 nuclear translocation, in fibroblasts by cell surface HLA class II induction, and in monocytes by cell surface CD64 induction and TNF-alpha secretion. Whereas cells from healthy children responded to even low IFN-gamma concentrations (10 IU/ml), and cells from a child with complete IFNgammaR1 deficiency did not respond to even high IFN-gamma concentrations (10,000 IU/ml), cells from the two siblings did not respond to low or intermediate concentrations, yet responded to high IFN-gamma concentrations. A homozygous missense IFNgR1 mutation was identified, and its pathogenic role was ascertained by molecular complementation. Thus, whereas complete IFNgammaR1 deficiency in previously identified kindreds caused fatal lepromatoid BCG infection and disseminated NTM infection, partial IFNgammaR1 deficiency in this kindred caused curable tuberculoid BCG infection and clinical tuberculosis.

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Crossref · 10.1172/jci119810

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Metadata

Authors
Jouanguy, E., Lamhamedi-Cherradi, S., Altare, F., Fondanèche, M. C., Tuerlinckx, D., Blanche, S., Emile, J. F., Gaillard, J. L., Schreiber, R., Levin, M., Fischer, A., Hivroz, C., & Casanova, J. L.
Venue
Journal of Clinical Investigation
Publisher
American Society for Clinical Investigation
Published
1997-12-01
Volume
100
Issue
11
Pages
2658-2664
ISSN
0021-9738 (ISSN-L)
DOI
10.1172/jci119810
OpenAlex
W2004192405
Cited by
377
References
21
FWCI
7.92
Type
journal article
Language
en
Open access
bronze

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The paper
Jouanguy, E., Lamhamedi-Cherradi, S., Altare, F., Fondanèche, M. C., Tuerlinckx, D., Blanche, S., Emile, J. F., Gaillard, J. L., Schreiber, R., Levin, M., Fischer, A., Hivroz, C., & Casanova, J. L. (1997). Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. Journal of Clinical Investigation. https://doi.org/10.1172/jci119810

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.