Associated Papers
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table
CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature.
Vij M et al.
Fetal and Pediatric Pathology, 2022
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
36727012 (PubMed )
Supplement: Datasheet3.pdf
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
A human immunodeficiency syndrome caused by mutations in CARMIL2.
Schober T et al.
Nature Communications, 2017
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
Linhares ND et al.
European Journal of Medical Genetics, 0
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