X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (8) 8
mutation (6) 6
genes, recessive (5) 5
genetic predisposition to disease (5) 5
ifn-gamma (5) 5
tuberculosis (5) 5
bacille calmette-guerin (4) 4
index medicus (4) 4
male (4) 4
mycobacterial infection (4) 4
mycobacterium infections, nontuberculous - genetics (4) 4
receptors, interferon - deficiency (4) 4
receptors, interferon - genetics (4) 4
stem-cell transplantation (4) 4
child (3) 3
child, preschool (3) 3
chronic mucocutaneous candidiasis (3) 3
female (3) 3
infectious diseases (3) 3
inherited interleukin-12 deficiency (3) 3
interferon-gamma-receptor (3) 3
mycobacterium infections - genetics (3) 3
mycobacterium infections, nontuberculous - immunology (3) 3
pedigree (3) 3
phenotype (3) 3
recessive ifn-gamma-r1 deficiency (3) 3
salmonella infections - genetics (3) 3
adult (2) 2
age (2) 2
amino acid sequence (2) 2
bacterial infections (2) 2
calmette-guerin infection (2) 2
children (2) 2
genes, dominant (2) 2
genetics & heredity (2) 2
genotype (2) 2
heterozygote (2) 2
human stat1 deficiency (2) 2
infectious disease (2) 2
interferon-gamma (2) 2
interferon-gamma - immunology (2) 2
lymphatic system (2) 2
molecular sequence data (2) 2
mycobacteriosis (2) 2
mycobacterium infections - immunology (2) 2
receptor beta-1 deficiency (2) 2
salmonella infections - immunology (2) 2
susceptibility (2) 2
tuberculosis - genetics (2) 2
tuberculosis - prevention & control (2) 2
adolescent (1) 1
allergy and immunology (1) 1
antitumor necrosis factor (1) 1
article (1) 1
articles (1) 1
autoantibodies (1) 1
autoimmunity (1) 1
avium complex infection (1) 1
b essential modulator (1) 1
bcg (1) 1
bcg vaccine (1) 1
bcg vaccine - adverse effects (1) 1
bcg vaccine - therapeutic use (1) 1
biochemistry & molecular biology (1) 1
biological response modifiers (1) 1
calmette-guerin (1) 1
candidiasis - genetics (1) 1
candidiasis - immunology (1) 1
candidiasis - microbiology (1) 1
candidiasis - pathology (1) 1
chromosome mapping (1) 1
chromosomes (1) 1
chromosomes, human, x (1) 1
chronic granulomatous-disease (1) 1
chronic multifocal osteomyelitis (1) 1
clinical tuberculosis (1) 1
coinfection (1) 1
complementary dna (1) 1
cryptosporidium-parvum (1) 1
crystal-structure (1) 1
cytokines (1) 1
dendritic cells (1) 1
disease (1) 1
disease susceptibility (1) 1
dna-binding domain (1) 1
ectodermal dysplasia (1) 1
electronic letter (1) 1
exons (1) 1
founder effect (1) 1
function stat1 mutations (1) 1
gamma -interferon (1) 1
gamma-receptor deficiency (1) 1
gangrene (1) 1
gene (1) 1
gene therapy (1) 1
genes (1) 1
genetic heterogeneity (1) 1
genetic mutation (1) 1
genetic predisposition to disease - genetics (1) 1
genomes (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Molecular Genetics, ISSN 0964-6906, 04/2011, Volume 20, Issue 8, pp. 1509 - 1523
We report a series of 14 patients from 11 kindreds with recessive partial (RP)- interferon (IFN)-gamma R1 deficiency. The I87T mutation was found in nine... 
MEDIATED IMMUNITY | CALMETTE-GUERIN INFECTION | HUMAN STAT1 DEFICIENCY | INTERFERON-GAMMA | IFN-GAMMA | IL-12R-BETA-1 DEFICIENCY | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CRYPTOSPORIDIUM-PARVUM | GENETICS & HEREDITY | GAMMA-RECEPTOR DEFICIENCY | STEM-CELL TRANSPLANTATION | Haplotypes | Salmonella | Phosphorylation | Humans | Osteomyelitis - genetics | Salmonella Infections - genetics | Child, Preschool | Molecular Sequence Data | Male | Monocytes - metabolism | Tuberculosis - microbiology | Interferon-gamma - metabolism | Mutation, Missense | Mycobacterium Infections - immunology | Young Adult | Founder Effect | STAT1 Transcription Factor - metabolism | Mycobacterium Infections - genetics | Adult | Female | Mycobacterium Infections - microbiology | Pneumonia, Bacterial - genetics | Child | Receptors, Interferon - genetics | Amino Acid Sequence | Genetic Predisposition to Disease | Tuberculosis - mortality | Mycobacterium bovis | Receptors, Interferon - deficiency | Mycobacterium avium | Genes, Recessive | Protein Transport | Phenotype | Receptors, Interferon - immunology | Tuberculosis - genetics | Osteomyelitis - microbiology | Pedigree | Adolescent | Infection | Tuberculosis | Prophylaxis | gamma -Interferon | Salmonellosis | Children | Mutation | Founder effect | Mycobacteriosis | Islands | Age | Genotypes
Journal Article
Seminars in Immunology, ISSN 1044-5323, 2014, Volume 26, Issue 6, pp. 454 - 470
Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly... 
Allergy and Immunology | IFN-γ | Tuberculosis | BCG | ISG15 | Mycobacteriosis | IL-12 | Primary immunodeficiency | CHRONIC MULTIFOCAL OSTEOMYELITIS | INHERITED INTERLEUKIN-12 DEFICIENCY | FUNCTION STAT1 MUTATIONS | RECEPTOR BETA-1 DEFICIENCY | CHRONIC GRANULOMATOUS-DISEASE | RECESSIVE IFN-GAMMA-R1 DEFICIENCY | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | AVIUM COMPLEX INFECTION | IFN-gamma | BACILLE CALMETTE-GUERIN | STEM-CELL TRANSPLANTATION | Candidiasis - genetics | Tuberculosis, Pulmonary - microbiology | Coinfection | Metabolism, Inborn Errors - microbiology | Humans | Salmonella Infections - genetics | Immunity, Innate - genetics | Mycobacterium tuberculosis - immunology | Salmonella Infections - immunology | Candidiasis - microbiology | Tuberculosis, Pulmonary - genetics | Host-Pathogen Interactions - immunology | Interferon-gamma - genetics | Candidiasis - immunology | Candidiasis - pathology | Severity of Illness Index | Salmonella Infections - pathology | Genetic Predisposition to Disease | Genotype | Tuberculosis, Pulmonary - pathology | Metabolism, Inborn Errors - genetics | Genetic Heterogeneity | Metabolism, Inborn Errors - immunology | Phenotype | Tuberculosis, Pulmonary - immunology | Host-Pathogen Interactions - genetics | Interferon-gamma - immunology | Salmonella Infections - microbiology | Metabolism, Inborn Errors - pathology | tuberculosis | primary immunodeficiency | mycobacteriosis
Journal Article
Journal Article
Journal Article
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.