# A Novel Autoimmune Presentation of Wiskott‐Aldrich Syndrome: Type 1 Diabetes

## TL;DR

A 37-year-old man with Wiskott-Aldrich syndrome developed type 1 diabetes, a previously unreported autoimmune complication of this rare immunodeficiency disorder.

## Contribution

This is the first reported case of GAD65 and ZnT8 positive autoimmune diabetes in a patient with Wiskott-Aldrich syndrome.

## Key findings

- A patient with Wiskott-Aldrich syndrome was found to have new-onset autoimmune diabetes with elevated GAD65 and ZnT8 antibodies.
- The case expands the known autoimmune complications associated with Wiskott-Aldrich syndrome.
- The patient required insulin therapy to manage hyperglycemia during pre-transplant evaluation.

## Abstract

Wiskott‐Aldrich syndrome (WAS) is a rare X‐linked primary immunodeficiency characterized by microthrombocytopenia, eczema, and recurrent infections. While autoimmune complications are common in WAS, including autoimmune hemolytic anemia, vasculitis, and glomerulonephritis, type 1 diabetes has not been previously described.

We report a 37‐year‐old man with longstanding leukopenia and recurrent infections who was diagnosed with WAS after genetic testing revealed a gain‐of‐function mutation in the WAS gene. During pre‐transplant evaluation for hematopoietic stem cell transplantation, he was incidentally found to have a blood glucose level over 600 mg/dL and an A1c of 12.8%, along with classic symptoms of new‐onset diabetes. Antibody testing confirmed autoimmune diabetes with elevated GAD65 and ZnT8 antibodies, and C‐peptide of 1.2 ng/mL, with a glucose of 186 mg/dL. He was started on intravenous insulin and later discharged home on a basal‐bolus regimen.

To our knowledge, this is the first reported case of GAD65 and ZnT8 positive autoimmune diabetes in a patient with WAS. This case expands the spectrum of autoimmune disease associated with WAS and underscores the importance of maintaining a high index of suspicion for atypical autoimmune presentations in patients with WAS.