Primary immunodeficiency syndromes are a group of genetic disorders that are characterized by aberrant innate and adaptive immune responses.1 Patients are at increased risk of developing recurrent infections, allergies, autoimmune diseases, and, in some instances, cancers.2 The subtle nature of clinical symptoms often makes them overlooked and delays diagnosis. Skin and hair conditions are increasingly recognized as components of these syndromes. We describe a patient with alopecia areata (AA) and seemingly unconnected comorbidities who was ultimately received a diagnosis of cytotoxic T-lymphocyte antigen−4 (CTLA-4) haploinsufficiency.
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Casale F, Nguyen C, Ward S, Mesinkovska NA. Cytotoxic T-Lymphocyte Antigen–4 Haploinsufficiency Cutaneous Manifestations. JAMA Dermatol. Published online July 14, 2021. doi:10.1001/jamadermatol.2021.2317
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