Whole-exome sequencing of an infant with rare MYD88-related primary immunodeficiency (type 68)

This study reports whole-exome sequencing data from a 3-month-old male with recurrent severe bacterial infections and atypical inflammatory responses. The patient was diagnosed with an extremely rare form of primary immunodeficiency (type 68) caused by novel compound-heterozygous variants in the MYD88 gene, both located in the death domain. MYD88 plays a critical role in innate immune signaling, and loss-of-function variants impair the body's ability to mount effective responses to pyogenic bacteria. Clinical presentation included pyelonephritis, pyogenic liver abscess, and septic pneumonia complicated by pneumothorax. Immunological screening was unremarkable, highlighting the diagnostic challenge in early infancy. Molecular diagnosis allowed for targeted prophylactic management and contributed to expanding the known mutational spectrum of MYD88. This data may assist researchers studying rare immunodeficiencies, genotype-phenotype correlations, and host-pathogen interactions in early childhood.