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Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation.
Simon Urschel1, Lale Kayikci, Uwe Wintergerst
1Pediatric Immunology and Infectious Diseases, University Children's Hospital, Ludwig Maximilians University, Munich, Germany. simon.urschel@med.uni-muenchen.de
The Journal of Pediatrics
|February 24, 2009
Summary
Common variable immunodeficiency disorder (CVID) in children presents similarly to adults, significantly impacting growth and development. Delayed diagnosis is common due to overlapping symptoms and insufficient awareness.
Area of Science:
- Pediatric Immunology
- Clinical Immunology
Background:
- Common Variable Immunodeficiency Disorder (CVID) is a primary immunodeficiency.
- Characterizing CVID in childhood is crucial for timely diagnosis and management.
Purpose of the Study:
- To characterize the clinical presentation of CVID in a pediatric cohort.
- To identify common comorbidities and long-term outcomes in children with CVID.
Main Methods:
- Retrospective investigation of clinical findings in 32 children with primary CVID.
- Data collected via questionnaire and medical file review.
Main Results:
- Recurrent infections (respiratory, sinus, ear, intestinal) were prevalent (88%).
- Significant rates of meningitis (25%), sepsis (16%), allergic disorders (38%), and autoimmune diseases (31%) were observed.
- Delayed diagnosis averaged 5.8 years, impacting growth (28%) and mental development (16%).
Conclusions:
- Pediatric CVID shares clinical features with adult CVID.
- CVID significantly affects childhood growth and development.
- Delayed diagnosis in children stems from symptom overlap and low awareness.
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