PMID- 10608793
OWN - NLM
STAT- MEDLINE
DCOM- 20000303
LR  - 20181130
IS  - 0022-1899 (Print)
IS  - 0022-1899 (Linking)
VI  - 181
IP  - 1
DP  - 2000 Jan
TI  - Partial interferon-gamma receptor signaling chain deficiency in a patient with
      bacille Calmette-Guerin and Mycobacterium abscessus infection.
PG  - 379-84
AB  - Complete deficiency of either of the two human interferon (IFN)-gamma receptor
      components, the ligand-binding IFN-gammaR1 chain and the signaling IFN-gammaR2
      chain, is invariably associated with early-onset infection caused by bacille
      Calmette-Guerin vaccines and/or environmental nontuberculous mycobacteria, poor
      granuloma formation, and a fatal outcome in childhood. Partial IFN-gammaR1
      deficiency is associated with a milder histopathologic and clinical phenotype.
      Cells from a 20-year-old healthy person with a history of curable infections due 
      to bacille Calmette-Guerin and Mycobacterium abscessus and mature granulomas in
      childhood were investigated. There was a homozygous nucleotide substitution in
      IFNGR2, causing an amino acid substitution in the extracellular region of the
      encoded receptor. Cell surface IFN-gammaR2 were detected by flow cytometry.
      Cellular responses to IFN-gamma were impaired but not abolished. Transfection
      with the wild-type IFNGR2 gene restored full responsiveness to IFN-gamma. This is
      the first demonstration of partial IFN-gammaR2 deficiency in humans.
FAU - Doffinger, R
AU  - Doffinger R
AD  - Institut National de la Sante et de la Recherche Medicale (INSERM) U429, Paris,
      France.
FAU - Jouanguy, E
AU  - Jouanguy E
FAU - Dupuis, S
AU  - Dupuis S
FAU - Fondaneche, M C
AU  - Fondaneche MC
FAU - Stephan, J L
AU  - Stephan JL
FAU - Emile, J F
AU  - Emile JF
FAU - Lamhamedi-Cherradi, S
AU  - Lamhamedi-Cherradi S
FAU - Altare, F
AU  - Altare F
FAU - Pallier, A
AU  - Pallier A
FAU - Barcenas-Morales, G
AU  - Barcenas-Morales G
FAU - Meinl, E
AU  - Meinl E
FAU - Krause, C
AU  - Krause C
FAU - Pestka, S
AU  - Pestka S
FAU - Schreiber, R D
AU  - Schreiber RD
FAU - Novelli, F
AU  - Novelli F
FAU - Casanova, J L
AU  - Casanova JL
LA  - eng
GR  - CA-46465/CA/NCI NIH HHS/United States
GR  - R01-AI36450/AI/NIAID NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Infect Dis
JT  - The Journal of infectious diseases
JID - 0413675
RN  - 0 (BCG Vaccine)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (Receptors, Interferon)
RN  - 0 (STAT1 Transcription Factor)
RN  - 0 (STAT1 protein, human)
RN  - 0 (Trans-Activators)
RN  - 07MXG07O12 (interferon gamma receptor)
SB  - IM
MH  - Adult
MH  - BCG Vaccine/*adverse effects
MH  - DNA-Binding Proteins/metabolism
MH  - Female
MH  - Genotype
MH  - HLA-DR Antigens/metabolism
MH  - Homozygote
MH  - Humans
MH  - Mycobacterium Infections/*immunology
MH  - Mycobacterium bovis/immunology/pathogenicity
MH  - Pedigree
MH  - Phenotype
MH  - Point Mutation
MH  - Receptors, Interferon/*genetics/*metabolism
MH  - STAT1 Transcription Factor
MH  - Signal Transduction
MH  - Trans-Activators/metabolism
EDAT- 1999/12/23 09:00
MHDA- 2000/03/21 09:00
CRDT- 1999/12/23 09:00
PHST- 1999/12/23 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/12/23 09:00 [entrez]
AID - JID990663 [pii]
AID - 10.1086/315197 [doi]
PST - ppublish
SO  - J Infect Dis. 2000 Jan;181(1):379-84. doi: 10.1086/315197.