Condition: Decreased antibody level in blood


rs104894419 in LIG4 gene and Decreased antibody level in blood PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

rs1553721236 in SEC61A1 gene and Decreased antibody level in blood PMID 28782633 2018 Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).