Immunodeficiency and Autoimmune Disorders

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.

Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome

This study reports clinical and molecular findings of eight Bloom syndrome patients, identifying BLM and RMI1 mutations and highlighting phenotypic differences between BLM- and RMI1-associated cases.

Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model.

This study investigates neurodevelopmental deficits in activated PI3Kδ syndrome (APDS) using patient assessments and a murine model, showing visuomotor and motor impairments linked to PIK3CD mutations.

Whole Genome Sequencing identifies novel structural variant in a large Indian family affected with X - linked agammaglobulinemia

The paper identifies a novel 5,296 bp deletion in the BTK gene in an Indian family with X-linked agammaglobulinemia through whole genome sequencing and carrier screening.

GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.