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

Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guérin disease and Pneumocystis pneumonia.

Frontiers in immunology - 1 Jan 2022

Pan Ying, Pan Hui, Lian Chunan, Wu Beiyan, Lin Jieying, Huang Guang, Cui Binglin

Abstract excerpt

Background: As a form of severe combined immunodeficiency (SCID), Janus kinase 3 (JAK3) deficiency can be fatal during severe infections in children, especially after inoculation of live-attenuated vaccines. We report a unique case of JAK3 deficiency with two compound heterozygous JAK3 mutations complicated by disseminated Bacille Calmette-Guérin (BCG) disease and Pneumocystis pneumonia. Case description: A...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to BCG Vaccine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Janus Kinase 3

Share to Pneumonia, Pneumocystis

Share to Severe Combined Immunodeficiency

Share to Vaccines, Attenuated

Source

Open in PubMed Open full text

Identifiers

PMID: 36466884
DOI: 10.3389/fimmu.2022.1055607
PMCID: PMC9712176

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: Mutations in JAK3 causing severe combined immunodeficiency complicated by disseminated Bacille Calmette-Guérin disease and Pneumocystis pneumonia.PMID 36466884Read ↗

Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.Semantic proximity Read ↗

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.Semantic proximity Read ↗

X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review.Semantic proximity Read ↗

Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease.Semantic proximity Read ↗

A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.Semantic proximity Read ↗

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.Semantic proximity Read ↗

A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency.Semantic proximity Read ↗

Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.Semantic proximity Read ↗

Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.Semantic proximity Read ↗

[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period].Semantic proximity Read ↗

Jak3 and the pathogenesis of severe combined immunodeficiency.Semantic proximity Read ↗

Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.Semantic proximity Read ↗

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