IGH repertoire sequencing of individuals with hyper-IgM syndrome type 2 (HIGM2) caused by heterozygous AIDCA gene variants

Immunoglobulin heavy chain (IGH) repertoires were sequenced from patients with hyper-IgM synrdome type 2 and from healthy controls. Patients carried heterozygous variants within the AIDCA gene. IGH repertoires were sequenced for IgM from transitional, naive and memory B cells for the patients and controls. IgG and IgA repertoires were additionally sequenced from memory B cells for the controls. IGH repertoires were bulk sequenced by targeted PCR from cDNA using primers for the IGHV and IGHM/G constant region. Libraries were sequenced on an Illumina MiSeq using 2x300 paired end reads. Effects on AID driven processes of somatic hypermutation and class-switching recombination were explored.