ArticleScientific reports2021
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Cell-type specific analyses in blood and gut identify cis-eQTL matching 140 IBD risk loci and entrectinib as repurposing candidate.Nature communications · 2026Article
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Celiac Disease as A Gastrointestinal Manifestation in A Patient withEuropean journal of case reports in internal medicine · 2026Article
- Combined Immunodeficiency Associated with Two Novel CARMIL2 Mutations: A Case Series.Journal of clinical immunology · 2025Article
- Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.Human genetics · 2023Review
- Functional analysis of HECA variants identified in congenital heart disease in the Chinese population.Journal of clinical laboratory analysis · 2022Article
- Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.Allergy · 2022Article
- Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.Frontiers in pediatrics · 2022Article
- Genetic/Environmental Contributions and Immune Dysregulation in Children with Atopic Dermatitis.Journal of asthma and allergy · 2022Review
- Review
- Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a NovelFrontiers in pediatrics · 2021Article
- Secondary Membranous Nephropathy and Immunodeficiency due to a Novel Biallelic Variant inIndian journal of nephrologyArticle
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Authors and funding
22 authors at 6 institutions in 4 countries.
Funding
Abstract
CARMIL2 is required for CD28-mediated co-stimulation of NF-κB signaling in T cells and its deficiency has been associated with primary immunodeficiency and, recently, very early onset inflammatory bowel disease (IBD). Here we describe the identification of novel biallelic CARMIL2 variants in three patients presenting with pediatric-onset IBD and in one with autoimmune polyendocrine syndrome (APS). None manifested overt clinical signs of immunodeficiency before their diagnosis. The first patient presented with very early onset IBD. His brother was found homozygous for the same CARMIL2 null variant and diagnosed with APS. Two other IBD patients were found homozygous for a nonsense and a missense CARMIL2 variant, respectively, and they both experienced a complicated postoperative course marked by severe infections. Immunostaining of bowel biopsies showed reduced CARMIL2 expression in all the three patients with IBD. Western blot and immunofluorescence of transfected cells revealed an altered expression pattern of the missense variant. Our work expands the genotypic and phenotypic spectrum of CARMIL2 deficiency, which can present with either IBD or APS, aside from classic immunodeficiency manifestations. CARMIL2 should be included in the diagnostic work-up of patients with suspected monogenic IBD.
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