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

Diagnostic and therapeutic challenges in a child with complete Interferon‐γ Receptor 1 deficiency

14 Jul 2015

Abstract excerpt

Autosomal recessive (AR) complete Interferon-γ Receptor1 (IFN-γR1) deficiency is a rare variant of Mendelian susceptibility to mycobacterial disease (MSMD). Although hematopoietic stem cell transplantation (HSCT) remains the only curative treatment, outcomes are heterogeneous; delayed engraftment and/or graft rejection being commonly observed. This case report and literature review expands the knowledge about...

Read the complete abstract on PubMed

Topics

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

Share to Cytomegalovirus and herpesvirus research
Share to Immunodeficiency and Autoimmune Disorders
Share to Mycobacterium research and diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26173802
DOI: 10.1002/pbc.25625

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnostic and therapeutic challenges in a child with complete Interferon‐γ Receptor 1 deficiencyPMID 26173802Read ↗

Mendelian susceptibility to mycobacterial disease: 2014–2018 updateSemantic proximity Read ↗

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.Semantic proximity Read ↗

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.Semantic proximity Read ↗

What We Have Here Is a Failure to Communicate: Interleukin-12 / Interferon-gamma Axis Defects and Mendelian Susceptibility to Mycobacterial Disease.Semantic proximity Read ↗

Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Semantic proximity Read ↗

IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.Semantic proximity Read ↗

Disseminated Salmonellosis in a child with IL12Rß1 deficiency – Case report and review of literature.Semantic proximity Read ↗

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.Semantic proximity Read ↗

Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.Semantic proximity Read ↗

Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFNγ immunitySemantic proximity Read ↗

Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood.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 ↗

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