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

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.

Frontiers in immunology - 1 Jan 2023

Gazzin Andrea, Pala Francesca, Bosticardo Marita, Niemela Julie, Stoddard Jennifer, Biasin Eleonora, Quarello Paola, Carli Diana, Ferroni Francesca, Delmonte Ottavia M, Montin Davide, Rosenzweig Sergio D, Licciardi Francesco, Notarangelo Luigi D

Abstract excerpt

Introduction: Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. Although immune system impairment has been documented in MUL, the underlying mechanisms remain poorly understood. Methods: We present a case of MUL with progressive lymphopenia and review similar cases...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to Heart Failure

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulins, Intravenous

Share to Kidney Neoplasms

Share to Lymphopenia

Share to Tripartite Motif Proteins

Share to Ubiquitin-Protein Ligases

Share to Wilms Tumor

Source

Open in PubMed Open full text

Identifiers

PMID: 38116000
DOI: 10.3389/fimmu.2023.1303251
PMCID: PMC10728670

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

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.PMID 38116000Read ↗

Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37.Semantic proximity Read ↗

Mulibrey Nanism: Clinical Spectrum and Molecular Pathogenesis.Semantic proximity Read ↗

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.Semantic proximity Read ↗

Lymphoma arising in the setting of inborn errors of immunity: A six-case series of XMEN-associated pediatric lymphomaSemantic proximity Read ↗

CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations.Semantic proximity Read ↗

Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism.Semantic proximity Read ↗

Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.Semantic proximity Read ↗

Immune Deficiency and Immune Dysregulation in Single-Ventricle Congenital Heart Disease: A Forgotten Multidimensional ProblemSemantic proximity Read ↗

Mulibrey nanism: clinical features and diagnostic criteria.Semantic proximity Read ↗

Wilms Tumor with Mulibrey Nanism: A Case Report and Review of LiteratureSemantic proximity Read ↗

Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).Semantic proximity Read ↗

Recent Advances in DOCK8 Immunodeficiency Syndrome.Semantic proximity Read ↗

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