Associated Papers
CARMIL2 deficiency disrupts activation-induced metabolic reprogramming in T cells and is partially rescued by glutamine supplementation.
Kabha M et al.
The Journal of Allergy and Clinical Immunology, 2025
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Gaibee Z et al.
The New England Journal of Medicine, 2025
40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R et al.
The Journal of Experimental Medicine, 2023
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Kolukisa B et al.
Allergy, 2022
Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy.
Zhu Y et al.
Frontiers in Pediatrics, 2022
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Bosa L et al.
Scientific Reports, 2021
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Kurolap A et al.
Journal of Clinical Immunology, 2019
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