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

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like Hyperinflammation

27 Jun 2020

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune and Inflammatory Disorders Research
Share to Immune Cell Function and Interaction
Share to Immunodeficiency and Autoimmune Disorders

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

Source

Identifiers

PMID: 32603902
DOI: 10.1016/j.jaip.2020.06.034

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 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

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like HyperinflammationPMID 32603902Read ↗

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiencySemantic proximity Read ↗

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiencySemantic proximity Read ↗

Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation.Semantic proximity Read ↗

Genetics of Primary Hemophagocytic Lymphohistiocytosis.Semantic proximity Read ↗

Genetics and pathophysiology of haemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 yearsSemantic proximity Read ↗

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathiesSemantic proximity Read ↗

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.Semantic proximity Read ↗

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosisSemantic proximity Read ↗

Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities.Semantic proximity Read ↗

Primary immunodeficiency reveals importance of RIPK1.Semantic proximity Read ↗

STAT1 and STAT3 mutations: important lessons for clinical immunologistsSemantic proximity Read ↗

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