Interleukin- 12 receptor β1 deficiency presenting as recurrent Salmonella infection

Orna Staretz-Haham; Rimma Melamed; Matitiahu Lifshitz; Nurith Porat; Claire Fieschi; Jean Laurent Casanova; Jacov Levy

doi:10.1086/375229

Interleukin- 12 receptor β1 deficiency presenting as recurrent Salmonella infection

Orna Staretz-Haham, Rimma Melamed, Matitiahu Lifshitz, Nurith Porat, Claire Fieschi, Jean Laurent Casanova, Jacov Levy

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39 Scopus citations

Abstract

We describe a child with interleukin-12 receptor β1 (IL-12Rβ1) deficiency caused by a homozygous IL12RB1 large deletion who presented at the age of 1 year with recurrent, often asymptomatic episodes of bacteremia caused by group D Salmonella species. No mycobacterial disease or other unusual infection was present. The episodes of salmonellosis were caused by an identical serovar during a period of 18 months. This is the first case of inherited IL-12Rβ1 deficiency diagnosed after isolated, recurrent salmonellosis.

Original language	English
Pages (from-to)	137-140
Number of pages	4
Journal	Clinical Infectious Diseases
Volume	37
Issue number	1
DOIs	https://doi.org/10.1086/375229
State	Published - 1 Jul 2003

ASJC Scopus subject areas

Microbiology (medical)
Infectious Diseases

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abstract = "We describe a child with interleukin-12 receptor β1 (IL-12Rβ1) deficiency caused by a homozygous IL12RB1 large deletion who presented at the age of 1 year with recurrent, often asymptomatic episodes of bacteremia caused by group D Salmonella species. No mycobacterial disease or other unusual infection was present. The episodes of salmonellosis were caused by an identical serovar during a period of 18 months. This is the first case of inherited IL-12Rβ1 deficiency diagnosed after isolated, recurrent salmonellosis.",

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AU - Staretz-Haham, Orna

AU - Melamed, Rimma

AU - Lifshitz, Matitiahu

AU - Porat, Nurith

AU - Fieschi, Claire

AU - Casanova, Jean Laurent

AU - Levy, Jacov

PY - 2003/7/1

Y1 - 2003/7/1

N2 - We describe a child with interleukin-12 receptor β1 (IL-12Rβ1) deficiency caused by a homozygous IL12RB1 large deletion who presented at the age of 1 year with recurrent, often asymptomatic episodes of bacteremia caused by group D Salmonella species. No mycobacterial disease or other unusual infection was present. The episodes of salmonellosis were caused by an identical serovar during a period of 18 months. This is the first case of inherited IL-12Rβ1 deficiency diagnosed after isolated, recurrent salmonellosis.

AB - We describe a child with interleukin-12 receptor β1 (IL-12Rβ1) deficiency caused by a homozygous IL12RB1 large deletion who presented at the age of 1 year with recurrent, often asymptomatic episodes of bacteremia caused by group D Salmonella species. No mycobacterial disease or other unusual infection was present. The episodes of salmonellosis were caused by an identical serovar during a period of 18 months. This is the first case of inherited IL-12Rβ1 deficiency diagnosed after isolated, recurrent salmonellosis.

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Interleukin- 12 receptor β1 deficiency presenting as recurrent Salmonella infection

Abstract

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