title: X-linked agammaglobulinemia in a 10-year-old child: a case study.
abstract: OBJECTIVE
  To discuss the advanced practice nurse's diagnosis and management of an unsuspected primary immunodeficiency (PI) disease, X-linked agammaglobulinemia (XLA), in a child.
  
  
  METHODS
  Review of historical and current scientific literature, practice guidelines, and a case study.
  
  
  CONCLUSIONS
  While a diagnosis of XLA is most commonly made in the first 3 years of life, this case study presents a 10-year-old boy's circuitous route to this diagnosis. A diagnosis of an immune defect should be considered for patients with chronic, recurrent, or unusual infections. For patients who lack immune globulins and antibodies, intravenous immune globulin, given monthly and continued throughout life, is the standard of care.
  
  
  CONCLUSIONS
  Diagnosis of children and adults with primary immune deficiency diseases may be delayed if practitioners fail to find the root cause of recurrent infections. Nurses as patient advocates should recognize the need for a referral in clinical cases where immunodeficiency may not be suspected. Evaluation of the immune system is performed by a panel of blood tests. There is a need to increase awareness of PI, their manifestations, and treatment among nurses both at the bedside and in advanced practice settings.
authors: Division of Clinical Immunology, Mount Sinai School of Medicine, New York, New York 10029-6574, USA. lissette.estrella@mssm.edu
authors: Lissette
authors: L
authors: Estrella
authors: Mary E
authors: ME
authors: Foley
authors: Charlotte
authors: C
authors: Cunningham-Rundles
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002648:Child; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male; D010375:Pedigree; D017410:Practice Guidelines as Topic
chemical_list: D016756:Immunoglobulins, Intravenous