case_images: PMC10183671_01
case_images: Nucleotide substitution (c.1685G>A, p.R562Q) located in the tyrosine kinase domain of Bruton's tyrosine kinase (BTK) gene.
case_images: fimmu-14-1095123-g001.jpg
case_images: PMC10183671_01_fimmu-14-1095123-g001.jpg
case_images: f1
case_images: Genetic analysis revealed a heterozygous de novo variant in the BTK gene (c.1685G>A, p.R562Q) considered probably pathogenic, not previously described and not present in the patient's parents ( Figure 1 ).