Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

We describe a child with interleukin-12 receptor beta1 (IL-12Rbeta1) 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 i...

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Veröffentlicht in:	Clinical infectious diseases 2003-07, Vol.37 (1), p.137-140
Hauptverfasser:	Staretz-Haham, Orna, Melamed, Rimma, Lifshitz, Matitiahu, Porat, Nurith, Fieschi, Claire, Casanova, Jean Laurent, Levy, Jacov
Format:	Artikel
Sprache:	eng
Schlagworte:	Gene Deletion Humans Infant Male Receptors, Interleukin - deficiency Receptors, Interleukin - genetics Receptors, Interleukin - metabolism Receptors, Interleukin-12 Recurrence Salmonella Infections - genetics Salmonella Infections - immunology Salmonella Infections - metabolism
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Zusammenfassung:	We describe a child with interleukin-12 receptor beta1 (IL-12Rbeta1) 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-12Rbeta1 deficiency diagnosed after isolated, recurrent salmonellosis.
ISSN:	1537-6591