• Med. Clin. North Am. · Jul 2024

    Review

    Inborn Errors of Immunity.

    • Carolyn H Baloh and Hey Chong.
    • Division of Allergy and Clinical Immunology, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, 60 Fenwood Road, BTM/Hale Building, 5th Floor, Boston, MA 02115, USA. Electronic address: cbaloh@bwh.harvard.edu.
    • Med. Clin. North Am. 2024 Jul 1; 108 (4): 703718703-718.

    AbstractInborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer for evaluation. The PCP can begin a laboratory evaluation before referral by sending a complete blood count (CBC) with differential, antibody levels, vaccine titers, and possibly other tests. Management approaches vary from antibiotic prophylaxis to hematopoietic stem cell transplantation depending on the specific diagnosis.Copyright © 2023 Elsevier Inc. All rights reserved.

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