Inborn Errors of Immunity - 28/05/24

Doi : 10.1016/j.mcna.2023.08.006

Carolyn H. Baloh, MD ^a,^⁎ , Hey Chong, MD, PhD ^b
^a 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
^b Division of Allergy and Immunology, Department of Pediatrics, UPMC Children’s Hospital of Pittsburgh, 4401 Penn Avenue, AOB 3300, Pittsburgh, PA 15224, USA

^∗Corresponding author. 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, USADivision of Allergy and Clinical ImmunologyDepartment of MedicineHarvard Medical SchoolBrigham and Women’s Hospital60 Fenwood Road, BTM/Hale Building, 5th FloorBostonMA02115USA

Résumé

Inborn 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.

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Keywords : Immunodeficiency, Antibody deficiency, Combined immunodeficiency, Inborn errors of immunity, Recurrent infection(s), Immunoglobulin replacement, Antibiotic prophylaxis, Hematopoietic stem cell transplantation