A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand.
Genetic defects of interleukin (IL)-12/23-and interferon (IFN)-gamma-mediated immunity can cause increased susceptibility to intracellular microbes. Among these defects, a mutation of the gene encoding the IL-12 receptor beta1 (IL-12Rbeta1) is the most common worldwide. A 12-year old Thai boy with pre-existing neurofibromatosis type 1 (NF1) was evaluated for primary immunodeficiency after a history of tuberculous lymphadenitis, recurrent Salmonella infections and nocardiosis. Flow cytometry of phytohemagglutinin (PHA)-stimulated peripheral blood mononuclear cells (PBMCs) revealed a defect in the IL-12Rbeta1 surface expression. A genetic study showed a novel nonsense homozygous mutation of the IL12RB1 gene in exon 4 (402C > A), confirming the diagnosis of IL-12Rbeta1 deficiency. This is the first case report of a primary IL-12Rbeta1 deficiency in Thailand with the interesting finding of a coexisting NF1.
Luangwedchakarn
Voravich
V
Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. sivlw@mahidol.ac.th
Jirapongsaranuruk
Orathai
O
NiemeLa
Julie E
JE
Thepthai
Charin
C
Chokephaibulkit
Kulkanya
K
Sukpanichnant
Sanya
S
Pacharn
Punchama
P
Visitsunthorn
Nualanong
N
Vichyanond
Pakit
P
Piboonpocanun
Surapon
S
Fleisher
Thomas A
TA
D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D009615:Nocardia / Q000276:immunology* / Q000472:pathogenicity; D009617:Nocardia Infections / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic; D053707:Receptors, Interleukin-12 / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D012008:Recurrence; D012475:Salmonella / Q000276:immunology* / Q000472:pathogenicity; D012480:Salmonella Infections / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D013785:Thailand; D014388:Tuberculosis, Lymph Node / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D014774:Virulence
D018389:Codon, Nonsense; C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12