UNASSIGNED: Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as @entity466 ( @entity466 ). Hypomorphic mutations in the non-homologous end-joining gene @entity33418 (encoding ARTEMIS) have been described to cause atypical @entity466 , @entity466 , @entity23694 and @entity29 -all with severely impaired T-cell immunity. By whole-exome sequencing, we investigated the molecular defect in a consanguineous family with three @entity1 clinically diagnosed with antibody deficiency. We identified perfectly segregating homozygous variants in @entity33418 in three index @entity1 with recurrent @entity1729 , very low B-cell numbers and serum IgA levels. In @entity1 , decreased colony survival after irradiation, impaired proliferative response and reduced counts of na  ve T cells were observed in addition to a restricted T-cell receptor repertoire, increased palindromic @entity2036 in the complementarity determining regions 3 and long stretches of microhomology at switch junctions. Defective V(D)J recombination was complemented by wild-type ARTEMIS protein in vitro. Subsequently, homozygous or compound heterozygous @entity33418 mutations were identified in nine @entity1 from the same geographic region. We demonstrate that @entity33418 mutations can cause a phenotype presenting as @entity465 . This novel association broadens the clinical spectrum associated with ARTEMIS mutations. Clinicians should consider the possibility that an @entity465 with a clinically mild initial presentation could be a @entity465 , so as to provide appropriate care for affected @entity1 .

XXXX (ARTEMIS) mutations causing phenotypes ranging from atypical @entity466 to @entity465 .

@entity1 :: ('9606', 'Species') :: ['children', 'patients'] @entity33418 :: ('64421', 'Gene') :: ['DCLRE1C'] @entity2036 :: ('MESH:D009711', 'Chemical') :: ['nucleotides'] @entity23694 :: ('MESH:D053307', 'Disease') :: ['Hyper IgM syndrome'] @entity29 :: ('MESH:D015212', 'Disease') :: ['inflammatory bowel disease'] @entity465 :: ('MESH:D007153', 'Disease') :: ['immunodeficiency', 'combined immunodeficiency', 'only antibody deficiency'] @entity1729 :: ('MESH:D012141', 'Disease') :: ['respiratory tract infections'] @entity466 :: ('MESH:D016511', 'Disease') :: ['SCID', 'Omenn syndrome', 'severe combined immunodeficiency']
@entity33418 :: (64421,Gene) :: ['DCLRE1C']
