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

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency.

Cold Spring Harbor molecular case studies - 1 Dec 2020

Sklarz Tammarah, Hurwitz Stephanie N, Stanley Natasha L, Juusola Jane, Bagg Adam, Babushok Daria

Abstract excerpt

Acquired aplastic anemia (AA) is a life-threatening bone marrow failure caused by an autoimmune cytotoxic T lymphocyte attack on hematopoietic stem and progenitor cells. Factors contributing to aberrant autoimmune activation in AA include a deficit of T regulatory cells and high levels of inflammatory cytokines. Several acquired conditions of immune dysregulation and genetic polymorphisms in inflammatory...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Aplastic
Share to Benzoates
Share to Common Variable Immunodeficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclosporine

Share to Haploinsufficiency

Share to Hydrazines

Share to NF-kappa B p50 Subunit

Share to Pyrazoles

Source

Open in PubMed Open full text

Identifiers

PMID: 32972988
DOI: 10.1101/mcs.a005769
PMCID: PMC7784489

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

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency.PMID 32972988Read ↗

Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.Semantic proximity Read ↗

NF-κB1 haploinsufficiency due to a novel c.104delT variant in two patients with common variable immunodeficiency.Semantic proximity Read ↗

Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders.Semantic proximity Read ↗

Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.Semantic proximity Read ↗

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.Semantic proximity Read ↗

Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.Semantic proximity Read ↗

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and ConsequencesSemantic proximity Read ↗

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.Semantic proximity Read ↗

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.Semantic proximity Read ↗

The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable ImmunodeficiencySemantic proximity Read ↗

ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.Semantic proximity Read ↗

Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia.Semantic proximity Read ↗

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