PMID- 9806040
OWN - NLM
STAT- MEDLINE
DCOM- 19981120
LR  - 20231213
IS  - 0022-1899 (Print)
IS  - 0022-1899 (Linking)
VI  - 178
IP  - 4
DP  - 1998 Oct
TI  - Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis 
      factor-alpha in human interferon-gamma receptor 1 deficiency.
PG  - 1095-104
AB  - Mycobacterial infections are critically controlled by interferon-gamma 
      (IFN-gamma) and the cellular responses it elaborates, as shown by patients with 
      mutations in the IFN-gamma receptor ligand-binding chain (IFN-gamma R1) who have 
      disseminated nontuberculous mycobacterial infections. The immunologic sequelae of 
      IFN-gamma R1 deficiency were characterized in 2 unrelated patients from the 
      Indian subcontinent with novel homozygous recessive IFN-gamma R1 mutations. In 
      vitro, these patients' peripheral blood mononuclear cells produced 10% of normal 
      IFN-gamma and interleukin-12 (IL-12) in response to phytohemagglutinin (PHA) but 
      normal amounts of IFN-gamma in response to PHA plus IL-12. Tumor necrosis 
      factor-alpha (TNF-alpha) production was normal in response to endotoxin and to 
      PHA but was not augmented by the addition of IFN-gamma. An abnormal phenotype was 
      not found in heterozygous patient relatives. These patients demonstrate the 
      critical role that the IFN-gamma receptor plays in the regulation of IFN-gamma, 
      IL-12, and TNF-alpha.
FAU - Holland, S M
AU  - Holland SM
AD  - Laboratory of Host Defenses, National Institute of Allergy and Infectious 
      Diseases, National Institutes of Health, Bethesda, Maryland, USA. smh@nih.gov
FAU - Dorman, S E
AU  - Dorman SE
FAU - Kwon, A
AU  - Kwon A
FAU - Pitha-Rowe, I F
AU  - Pitha-Rowe IF
FAU - Frucht, D M
AU  - Frucht DM
FAU - Gerstberger, S M
AU  - Gerstberger SM
FAU - Noel, G J
AU  - Noel GJ
FAU - Vesterhus, P
AU  - Vesterhus P
FAU - Brown, M R
AU  - Brown MR
FAU - Fleisher, T A
AU  - Fleisher TA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Infect Dis
JT  - The Journal of infectious diseases
JID - 0413675
RN  - 0 (Receptors, Interferon)
RN  - 0 (Tumor Necrosis Factor-alpha)
RN  - 187348-17-0 (Interleukin-12)
RN  - 82115-62-6 (Interferon-gamma)
SB  - IM
MH  - Amino Acid Sequence
MH  - Child, Preschool
MH  - Genes, Recessive
MH  - Heterozygote
MH  - Humans
MH  - Interferon-gamma/*immunology
MH  - Interleukin-12/*immunology
MH  - Leukocytes, Mononuclear/immunology
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Mycobacterium avium Complex/*immunology
MH  - Pakistan/ethnology
MH  - Pedigree
MH  - Receptors, Interferon/deficiency/*genetics
MH  - Tumor Necrosis Factor-alpha/*immunology
MH  - Interferon gamma Receptor
EDAT- 1998/11/07 00:00
MHDA- 1998/11/07 00:01
CRDT- 1998/11/07 00:00
PHST- 1998/11/07 00:00 [pubmed]
PHST- 1998/11/07 00:01 [medline]
PHST- 1998/11/07 00:00 [entrez]
AID - 10.1086/515670 [doi]
PST - ppublish
SO  - J Infect Dis. 1998 Oct;178(4):1095-104. doi: 10.1086/515670.