Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.

ABSTRACT: 18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a 12-year-old girl with severe phenotype of 18q deletion syndrome, frequent infections, type 1 diabetes, autoimmune thyroiditis, and vitiligo. At first, the patient was diagnosed with selective immunoglobulin A (sIgAD) which explained her susceptibility to both infections and autoimmunity. With time, sIgAD progressed to common variable immune deficiency-like (CVID-like) disorder. She had a minimum of 12 infections per year, approximately twice as many courses of different antibiotics and up to three hospitalizations annually, making the treatment of diabetes difficult. Due to safety i

SUBMITTER: Hogendorf A 

PROVIDER: S-EPMC8442480 | biostudies-literature | 2021 Jan-Dec

REPOSITORIES: biostudies-literature