title: Immunodeficiency Presenting as an Undiagnosed Disease.
abstract: Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more autoimmune disorders, unusual severe atopic disease, or a combination of these disorders should lead a clinician to consider primary immunodeficiency disorders.
authors.affiliation: Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Clinics Building, Suite B440, 9000 West Wisconsin Avenue, Milwaukee, WI 53226-4874, USA. Electronic address: jroutes@mcw.edu.
authors.forename: John M
authors.initials: JM
authors.lastname: Routes
authors.affiliation: Department of Pediatrics, Children's Corporate Center, Children's Research Institute, Medical College of Wisconsin, Suite C465, 9000 West Wisconsin Avenue, Milwaukee, WI 53226-4874, USA.
authors.forename: James W
authors.initials: JW
authors.lastname: Verbsky
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000276:immunology; D002648:Child; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000276:immunology; D035583:Rare Diseases / Q000175:diagnosis* / Q000276:immunology
keywords: Autoimmunity; Common variable immunodeficiency; Granulomatous and lymphocytic interstitial lung disease; IPEX; Immune dysregulation, polyendocrinopathy, enteropathy, X-linked; Primary immunodeficiencies