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).