Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five.
Pediatric Immunology Division, Department of Pediatrics, Uludag University Medical Faculty, Gorukle-Bursa 16059, Turkey.
Sara Sebnem
SS
Kilic
Annelies
A
van Wengen
Roelof A
RA
de Paus
Solmaz
S
Celebi
Bouchra
B
Meziane
Demet
D
Hafizoglu
Jaap T
JT
van Dissel
Esther
E
van de Vosse
D019943:Amino Acid Substitution; D002675:Child, Preschool; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D007223:Infant; D008297:Male; D009154:Mutation; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D009169:Mycobacterium tuberculosis; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics* / Q000276:immunology; D000096743:Interferon gamma Receptor
D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor