ArticleAllergy2022
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Article in Allergy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency.Journal of human immunity · 2026Article
- Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview.Journal of clinical immunology · 2025Review
- Type 2 immunity in allergic diseases.Cellular & molecular immunology · 2025Review
- Bilateral Adrenal Leiomyomas in a Pediatric Patient.JCEM case reports · 2025Article
- Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.Turkish archives of pediatrics · 2025Article
- Regulatory T cells and their role in allergic disease.Allergy · 2025Review
- Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.Journal of clinical immunology · 2024Article
- DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.Journal of clinical immunology · 2024Article
- Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.Journal of clinical immunology · 2024Article
- Tipping the balance in autoimmunity: are regulatory t cells the cause, the cure, or both?Molecular and cellular pediatrics · 2024Review
- A NovelJournal of fungi (Basel, Switzerland) · 2024Article
- Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.Journal of clinical immunology · 2023Article
- Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.Clinical immunology (Orlando, Fla.) · 2023Article
- Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.The Journal of allergy and clinical immunology · 2023Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.The Journal of experimental medicine · 2023Article
- Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.Journal of clinical immunology · 2022Article
Corrections and comments
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Authors and funding
36 authors at 11 institutions in 4 countries.
Funding
Abstract
backgroundBiallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.
methodsThe presenting phenotypes, long-term outcomes, and treatment responses were evaluated prospectively in 15 CARMIL2-deficient patients, including 13 novel cases. Lymphocyte subpopulations, protein expression, regulatory T (Treg), and circulating T follicular helper (cT
resultsMean age at disease onset was 38 ± 23 months. Main clinical features were skin manifestations (n = 14, 93%), failure to thrive (n = 10, 67%), recurrent infections (n = 10, 67%), allergic symptoms (n = 8, 53%), chronic diarrhea (n = 4, 27%), and EBV-related leiomyoma (n = 2, 13%). Skin manifestations ranged from atopic and seborrheic dermatitis to psoriasiform rash. Patients had reduced proportions of memory CD4
conclusionThis cohort provides clinical and immunological features and long-term follow-up of different manifestations of CARMIL2 deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.