article_metadata: Lihua Jiang Sen Chen
article_metadata: 10.3389/fimmu.2024.1351076
article_metadata: Front Immunol
article_metadata: 2024 Mar 5:15:1351076.
article_metadata: lrba gene variant immune dysregulation pancytopenia paternal origin uniparental disomy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38504982/
article_metadata: Leukocytes, Mononuclear Uniparental Disomy / genetics
article_metadata: Leukocytes, Mononuclear Uniparental Disomy / genetics Case Reports Adaptor Proteins, Signal Transducing / genetics Biomarkers Child, Preschool Homozygote Humans Phenotype Biomarkers LRBA protein, human Adaptor Proteins, Signal Transducing
article_metadata: PMC10948553
article_metadata: 38504982
article_metadata: Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights
article_metadata: 2024