When to Think of Immunodeficiency?
Primary Immunodeficiencies (PIDs), although rare, are serious and heightened clinical suspicion leads to earlier diagnosis and improved outcome. Recognition of PIDs may be difficult as infections are common in young children in particular. Clues to the diagnosis of PID may be found in history, examination and initial basic investigations such as lymphocyte count. Age at presentation, type of infective organism and family history help focus on likely PIDs. Type of infective organism may indicate a specific PID, for example Aspergillus and Chronic Granulomatous Disease and Pneumocystis Jiroveci and SCID amongst others. Diagnostic aids such as ‘The 10 Warning Signs of Primary Immunodeficiency’ can be useful with failure to thrive, need for IV antibiotics, and family history of severe or unusual infections being the most discriminating. Systemic examination including the recognition of dysmorphic features may also support a particular diagnosis.
KeywordsRespiratory Syncytial Virus Chronic Granulomatous Disease Sclerosing Cholangitis Primary Immunodeficiency Meningococcal Disease
- 3.Dow M, Arkwright PD (2004) Primary antibody immunodeficiency in children. J Allergy Clin Immunol 113(2)Google Scholar
- 4.Bylund J, Goldblatt D, Speert D (2005) Chronic granulomatous disease: from genetic defect to clinical presentation. In: Pollard AJ, Finn A (eds) Hot topics in infection and immunity in children. Springer, New YorkGoogle Scholar
- 5.Wan-Fai Ng, Carmichael AJ, Arkwright PD, Abinun M, Cant AJ, Jollies S, Lilic D (2010) Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy—candidiasis—ectodermal dystrophy. J Allergy Clin Immunol 126(5):1006–1015CrossRefGoogle Scholar
- 7.Health Protection Agency (2011) Epidemiological Data of Meningococcal 2011. http://www.hpa.org.uk/Topics/InfectiousDiseases/InfectionsAZ/MeningococcalDisease/EpidemiologicalData/. (cited 2011 10/10/2011)
- 10.Chief Medical Officer (2005) Changes to the BCG vaccination programme. Department of HealthGoogle Scholar
- 13.Niklaus H, Mueller DHG, Randall J, Mahalingam R, Nagel MA (2008) Varicella Zoster Virus infection: clinical features, molecular pathogenesis of disease, and latency. Neurol Clin 26:3Google Scholar
- 15.Newborn blood spot screening in the UK (2005) Department of HealthGoogle Scholar
- 22.Bylund J, Goldblatt D, Speert D (2005) Chronic granulomatous disease: from genetic defect to clinical presentation. In: Pollard AJ, Finn A (eds) Hot topics in infection and immunity in children. Springer, New YorkGoogle Scholar
- 32.NIH (2011) http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#SignsandSymptoms. (cited 2011 17/10/2011)