title: Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.
abstract: Increased serum eosinophil levels have been associated with multiple disorders of immune deficiency or immune dysregulation. Although primary immunodeficiency diseases are rare, it is important to consider these in the differential diagnosis of patients with eosinophilia. In this review, the clinical features, laboratory findings, diagnosis, and genetic basis of disease of several disorders of immune deficiency or dysregulation are discussed. The article includes autosomal dominant hyper IgE syndrome, DOCK8 deficiency, phosphoglucomutase 3 deficiency, ADA-SCID, Omenn syndrome, Wiskott-Aldrich syndrome, Loeys-Dietz syndrome, autoimmune lymphoproliferative syndrome, immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, Comel-Netherton syndrome, and severe dermatitis, multiple allergies, and metabolic wasting syndrome.
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 33 North Drive, Building 33, Room 2W10A, Bethesda, MD 20892, USA.
authors.forename: Kelli W
authors.initials: KW
authors.lastname: Williams
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Building 10/CRC, Room 5-3950, Bethesda, MD 20892, USA.
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Milner
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Building 10/CRC, Room 12C103, Bethesda, MD 20892, USA. Electronic address: freemaal@mail.nih.gov.
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
mesh_terms: D004802:Eosinophilia / Q000473:pathology*; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000276:immunology / Q000473:pathology*
chemical_list: D007073:Immunoglobulin E
keywords: Deficiency; Dysregulation; Eosinophilia; Immune