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

Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette-Guérin (BCG)-induced Diseases.

Journal of clinical immunology - 21 Apr 2026

Chen Jinmei, Xi Min, Hu Weiwei, He Rongli, Zhang Wenrui, Zhang Yi, Chen Xiaohua, Chen Jie

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to infections caused by weakly virulent mycobacteria (such as nontuberculous mycobacteria (NTM) or the Bacillus Calmette–Guérin (BCG) vaccine) in otherwise healthy individuals. In this study, we described a 29-year-old patient with MSMD due to NTM infection identified using metagenomic next-generation sequencing...

Read the complete abstract on PubMed

Topics

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

Share to BCG Vaccine
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Mutation

Share to Mycobacterium Infections, Nontuberculous

Share to Nontuberculous Mycobacteria

Share to Receptors, Interleukin-12

Source

Open in PubMed Open full text

Identifiers

PMID: 42012700
DOI: 10.1007/s10875-026-02009-x
PMCID: PMC13230233

Genes

NTM
CD4
STAT4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette-Guérin (BCG)-induced Diseases.PMID 42012700Read ↗

Mendelian susceptibility to mycobacterial disease: recent discoveries.Semantic proximity Read ↗

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.Semantic proximity Read ↗

Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.Semantic proximity Read ↗

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.Semantic proximity Read ↗

Clinical recommendations for diagnosis and management of Mendelian susceptibility to mycobacterial disease in resource-limited settingsSemantic proximity Read ↗

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

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

A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.Semantic proximity Read ↗

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.Semantic proximity Read ↗

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.Semantic proximity Read ↗

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.Semantic proximity Read ↗

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

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