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July 14, 2021

Cytotoxic T-Lymphocyte Antigen–4 Haploinsufficiency Cutaneous Manifestations

Author Affiliations
  • 1Department of Dermatology, University of California Irvine School of Medicine, Irvine
JAMA Dermatol. Published online July 14, 2021. doi:10.1001/jamadermatol.2021.2317

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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