Jennifer R Yonkof Ajay Gupta Cesar M Rueda Shamlal Mangray Benjamin T Prince Hemalatha G Rangarajan Mohammad Alshahrani Elizabeth Varga Timothy P Cripe Roshini S Abraham
10.3389/fimmu.2020.00884
Front Immunol
2020 Jun 18;11:884.
carmil2 deficiency dock8 deficiency ebv-associated smooth muscle tumor early-onset inflammatory bowel disease (ibd) rltpr immune dysregulation primary immunodeficiencies
CC BY
https://pubmed.ncbi.nlm.nih.gov/32625199/
Epstein-Barr Virus Infections / genetics Herpesvirus 4, Human / physiology Microfilament Proteins / genetics Primary Immunodeficiency Diseases / genetics T-Lymphocytes / physiology
Epstein-Barr Virus Infections / genetics Herpesvirus 4, Human / physiology Microfilament Proteins / genetics Primary Immunodeficiency Diseases / genetics T-Lymphocytes / physiology Case Reports Research Support, Non-U.S. Gov't CD28 Antigens / metabolism Cells, Cultured Cytoskeleton / metabolism Humans Lymphocyte Activation Male Pedigree Saudi Arabia Siblings Smooth Muscle Tumor CARMIL1 protein, human CD28 Antigens Microfilament Proteins
PMC7314954
32625199
A Novel Pathogenic Variant in CARMIL2 ( RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors
2020