Methods: Case description
Results: A 5 year old female with recurrent infections since age 2 months had low IgG, IgA and IgM, low CD4+ and high CD8+ percent of T cells and failed antibody responses to Pneumococcal polysaccharide and Conjugate vaccines, PPV23 and PCV13 respectively. Genetics revealed a missense mutation on exon 6 of the DCLREC1 gene l: c.457G>A; p.G153R. Other mutations found on DCLREC1 reported as unlikely association.
A 2 year-old male presented with recurrent respiratory infections since age 6 months, had low serum IgG, failed antibody responses to PPV 23 and PCV 13 but normal lymphocyte subsets. Genetics revealed a variant mutation of the DCLRE1C gene of unknown significance: c.251C>G (p.S84C) and a heterozygous missense mutation of TNFRSF13B (TACI) gene associated with CVID type 2: c.310T>C (p.C104R). First patient’s mother with isolated similar heterozygous Artemis mutation and second patient's mother and father with isolated TACI and Artemis mutations respectively are all asymptomatic.
Conclusions: Two Patients with heterozygote Artemis mutations associated with an unrelated gene mutation were immunodeficient while their parents with the isolated mutations were asymptomatic.