Associated Papers
Avoidance of related donors in CAEBV with germline immune variants: long-termoutcome of matched unrelated donor HSCT - a case report.
Wang X et al.
Annals of Hematology, 2026
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.
Vall-Palomar M et al.
Plos Genetics, 2025
40173198 (PubMed )
Supplement: pgen.1011568.s004.xlsx › Table_2
Complement Regulates Nutrient Influx and Metabolic Reprogramming during Th1 Cell Responses.
Kolev M et al.
Immunity, 2015
26084023 (PubMed )
Supplement: mmc2.xlsx › 141119_pid_genes_6069_nonsyn_or
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E et al.
Human Mutation, 2013
The R156H variation in IL-12Rβ1 is not a mutation.
van de Vosse E et al.
Italian Journal of Pediatrics, 2013
Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels.
Palamaro L et al.
Italian Journal of Pediatrics, 2012
Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.
Potjewijd J et al.
Clinical Immunology (orlando, Fla.), 2012
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L et al.
Medicine, 2010
Can immunogenetics illuminate the diverse manifestations of respiratory infections?
Affandi JS et al.
Therapeutic Advances in Respiratory Disease, 2010
Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia.
Sahiratmadja E et al.
Tuberculosis (edinburgh, Scotland), 2007
Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.
van de Vosse E et al.
Human Molecular Genetics, 2005
Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
Remus N et al.
The Journal of Infectious Diseases, 2004
Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function.
van de Vosse E et al.
Immunogenetics, 2003
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