Project description:We studied a case with suspected PIK3CD deficiency with a homozygous mutation in the patient in PIK3CD (c.1340-1 G>A). All other family members were tested and defined as carriers of the same mutation and are clinically healthy. The literature states that there is an AD but also an AR form of the disease (Immunodeficiency 14 A and B, respectively) linked to the gene. The clinical phenotype of the patient fits very well the description as LOF she suffers from severe, recurrent infections since infancy and has low overall IgG levels.

2023-12-31 | GSE216493 | GEO

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Project description: Not available

| S-EPMC3808491 | biostudies-literature

Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats.

Project description: Not available

| S-EPMC4539567 | biostudies-literature