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 Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

18 Jun 2020

Abstract excerpt

CARMIL2 deficiency is a rare combined immunodeficiency (CID) characterized by defective CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, and susceptibility to Epstein Barr Virus smooth muscle tumors (EBV-SMTs). Case reports associated with EBV-SMTs are limited. We describe herein a novel homozygous CARMIL2 variant (c.1364_1393del) in two Saudi Arabian male siblings born to consanguineous...

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 Immune Cell Function and Interaction
Share to Immunodeficiency and Autoimmune Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32625199
DOI: 10.3389/fimmu.2020.00884

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle TumorsPMID 32625199Read ↗

CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of LiteratureSemantic proximity Read ↗

A human immunodeficiency syndrome caused by mutations in CARMIL2.Semantic proximity Read ↗

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.Semantic proximity Read ↗

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.Semantic proximity Read ↗

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.Semantic proximity Read ↗

Costimulatory connections: CARMIL2 and CD28.Semantic proximity Read ↗

Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.Semantic proximity Read ↗

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.Semantic proximity Read ↗

Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series.Semantic proximity Read ↗

SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.Semantic proximity Read ↗

The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.Semantic proximity Read ↗

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.Semantic proximity Read ↗

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