Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two patients with complete defects in interferon gamma receptor-dependent signaling.

Journal of clinical immunology - 1 Sept 2007

Noordzij Jeroen G, Hartwig Nico G, Verreck Frank A W, De Bruin-Versteeg Sandra, De Boer Tjitske, Van Dissel Jaap T, De Groot Ronald, Ottenhoff Tom H M, Van Dongen Jacques J M

Abstract excerpt

Unusual susceptibility to mycobacterial infections can be caused by deleterious mutations in genes that encode the interferon-gamma receptor 1 chain. Such mutations hamper the activation of macrophages by a type 1 immune response and result in enhanced survival of intracellular pathogens. We here report two patients with unusual mycobacterial infections, both diagnosed with homozygous deleterious interferon-gamma...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Interferon gamma Receptor

Share to Mycobacterium Infections

Share to Point Mutation

Share to Receptors, Interferon

Share to RNA Splice Sites

Share to Sequence Deletion

Source

Identifiers

PMID: 17514500
DOI: 10.1007/s10875-007-9097-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two patients with complete defects in interferon gamma receptor-dependent signaling.PMID 17514500Read ↗

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection.Semantic proximity Read ↗

Intractable mycobacterial infections associated with genetic defects in the receptor for interferon gamma: what does this tell us about immunity to mycobacteria?Semantic proximity Read ↗

Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling.Semantic proximity Read ↗

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options.Semantic proximity Read ↗

Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections.Semantic proximity Read ↗

Normal expression of IFN-gammaR in four patients with uncommon mycobacterial infection phenotypes.Semantic proximity Read ↗

Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.Semantic proximity Read ↗

Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.Semantic proximity Read ↗

Diagnostic and therapeutic challenges in a child with complete Interferon‐γ Receptor 1 deficiencySemantic proximity Read ↗

Three patients with defects in interferon gamma receptor signaling: a challenging diagnosisSemantic proximity Read ↗

A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial DiseasesSemantic proximity Read ↗

A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe ImmunodeficiencySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.