Wiskott-Aldrich Syndrome Mimicking Relapsing Polychondritis in a Middle-aged Woman: A Case Report

Inborn errors of immunity pose a diagnostic challenge for rheumatologists, as they can masquerade as various autoimmune diseases. Maintaining a low threshold for investigation is crucial to prevent delays in diagnosis. Additionally, the atypical presentation of an X-linked disorder in a female patient is unlikely and leads to a late diagnosis and suboptimal treatment; thus, our case report aimed to raise awareness of these complex and often overlooked conditions.

Herein, we have described the rare case of Wiskott-Aldrich syndrome, an X-linked disease, presenting in a middle-aged woman who was initially diagnosed with relapsing polychondritis. By reviewing the patient’s medical and family history, we identified key clues of immunodeficiency, a low platelet count, and a son with features consistent with Wiskott-Aldrich syndrome, which could have prompted earlier testing and recognition of her condition.

While autoimmune diseases may resemble inborn errors of immunity, a cautious examination of the patient’s familial history and atypical diagnostic odyssey may help discriminate between the diagnoses.