A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.
The Children's Cancer Centre, The Royal Children's Hospital, Melbourne, Australia. Electronic address: Charlotte.burns@rch.org.au.
Charlotte
C
Burns
The Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.
Abigail
A
Cheung
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Zornitza
Z
Stark
The Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.
Sharon
S
Choo
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Lilian
L
Downie
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; University of Melbourne, Melbourne, Australia.
Sue
S
White
The Children's Cancer Centre, The Royal Children's Hospital, Melbourne, Australia.
Rachel
R
Conyers
The Department of Immunology, The Royal Children's Hospital, Melbourne, Australia.
Theresa
T
Cole
D006720:Homozygote; D006801:Humans; D007223:Infant; D007249:Inflammation / Q000235:genetics* / Q000628:therapy*; D000073658:Loss of Function Mutation / Q000235:genetics*; D008297:Male; D050794:STAT1 Transcription Factor / Q000235:genetics*; D033581:Stem Cell Transplantation
D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human