Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor β1 deficiency
نویسندگان
چکیده
منابع مشابه
Interleukin 12 deficiency associated with recurrent infections.
A 3-yr-old female patient exhibited interleukin 12 (IL-12) deficiency that was associated with recurrent episodes of pneumococcal pneumonia with sepsis and other infections in the absence of fevers. The patient's peripheral blood mononuclear cells (PBMCs) exhibited normal proliferative responses to antigens. Immune responses, including in vivo production of antibodies to diphtheria, tetanus, or...
متن کاملLow Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency
The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rbeta1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virul...
متن کاملTwo Greek siblings with sepiapterin reductase deficiency.
BACKGROUND Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek siblings with the diagnosis of SR deficiency. The diagnosis was confirmed by enzyme activity measurement...
متن کاملVit. B12 Deficiency in Children (imerslund-gräsbeck Syndrome in Two Pairs of Siblings).
UNLABELLED Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living conditions of the population have less effect and genetic defects of malabsorption of vitamin B12 became the main reason for cobalamin deficiency in children. Imerslund-Grasbeck syndrome (IGS) is characterized by vitamin B12 deficiency that leads usually ...
متن کاملCholera Toxin Suppresses Interleukin (IL)-12 Production and IL-12 Receptor β1 and β2 Chain Expression
Cholera toxin (CT) is a potent mucosal vaccine adjuvant, which has been shown to induce T helper cell type 2 (Th2) responses in systemic and mucosal tissues. We report that CT inhibits the production of interleukin (IL)-12, a major Th2 counterregulatory cytokine. IL-12 p70 production by stimulated human monocytes was inhibited by CT in a dose-dependent manner. This suppression occurred at the l...
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ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 2007
ISSN: 0340-6199,1432-1076
DOI: 10.1007/s00431-007-0430-2