Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.
A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor β1 (IL-12/IL-23Rβ1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rβ1 defect.
Department of Internal Medicine, Division of Clinical and Experimental Immunology, Maastricht University Medical Center, Maastricht, The Netherlands. jpotjewijd@hotmail.com
Judith
J
Potjewijd
Roelof A
RA
de Paus
Annelies
A
van Wengen
Jan
J
Damoiseaux
Annelies
A
Verbon
Esther
E
van de Vosse
D000328:Adult; D001483:Base Sequence; D016207:Cytokines / Q000096:biosynthesis / Q000276:immunology; D005838:Genotype; D006801:Humans; D016130:Immunophenotyping; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D009165:Mycobacterium Infections, Nontuberculous / Q000235:genetics* / Q000276:immunology*; D009170:Nontuberculous Mycobacteria / Q000276:immunology*; D010766:Phosphorylation; D018123:Receptors, Interleukin / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D050797:STAT4 Transcription Factor / Q000378:metabolism
D016207:Cytokines; C515500:IL23R protein, human; D053711:Interleukin-12 Receptor beta 1 Subunit; D018123:Receptors, Interleukin; D050797:STAT4 Transcription Factor