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Journal article

Biliary cirrhosis in a child with inherited interleukin-12 deficiency.

Abstract:

Interleukin-12 (IL-12) is a key cytokine in the defense against intracellular bacteria notably Mycobacteria and Salmonella species. We report a case of disseminated mycobacterial infection, following BCG vaccination, in a child who later developed tuberculosis. Functional tests and a novel diagnostic polymerase chain reaction (PCR) assay, revealed a loss-of-function deletion in the IL12 gene. Analysis of samples from the parents and siblings of the patient indicated an autosomal recessive inh...

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Publication status:
Published

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Publisher copy:
10.1093/tropej/fmm119

Authors


Pulickal, AS More by this author
Hambleton, S More by this author
Callaghan, MJ More by this author
Goulding, J More by this author
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Journal:
Journal of tropical pediatrics
Volume:
54
Issue:
4
Pages:
269-271
Publication date:
2008-08-05
DOI:
EISSN:
1465-3664
ISSN:
0142-6338
URN:
uuid:bdd29a69-197e-4d25-a036-479fedf87e48
Source identifiers:
119163
Local pid:
pubs:119163

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