Background and methods: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function variants in the ADA2 gene. DADA2 typically presents in childhood an
CTNNB1 syndrome is a rare monogenetic disorder caused by CTNNB1 de novo pathogenic heterozygous loss-of-function variants that result in cognitive and motor disabilities. Treatment is currently lackin
Background and methods: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive disease caused by loss-of-function variants in the ADA2 gene. DADA2 typically presents in childhood an
We describe an atypical presentation of Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. The patient exhibited food allergies and eczema, along with recurrent and severe infec
