Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation.
OBJECTIVE
To characterize common variable immunodeficiency disorder (CVID) in childhood.


METHODS
We retrospectively investigated clinical findings in 32 children with primary CVID by questionnaire and file review.


RESULTS
Clinical presentation included recurrent or chronic respiratory tract infections (88%), sinusitis (78%), otitis media (78%), and intestinal tract infections (34%), mainly with encapsulated bacteria. Meningitis was found in 25%, sepsis in 16%, and pyelonephritis in 16% of patients. Poliomyelitis after vaccination occurred in 2 patients and opportunistic infections occasionally. Allergic disorders were present in 38%, and autoimmune disease in 31% of patients. Eighty percent of the patients underwent surgical procedures because of recurrent infections. Growth retardation was seen in 28% of patients, and 16% showed retarded mental development. Bronchiectasis developed in 34%, and lymphoid proliferative disease in 13%. Incidence of allergic and autoimmune diseases was increased in first-degree relatives with normal immunologic findings. Mean time between symptoms and induction of immunoglobulin substitution therapy was 5.8 years (0.2-14.3).


CONCLUSIONS
CVID in children presents with comparable symptoms and disorders as in adults. We found a significant influence on growth and development. The marked delay of diagnosis may be due to overlap with common pediatric disorders, while also reflecting insufficient awareness of these disorders.
Urschel
Simon
S
Pediatric Immunology and Infectious Diseases, University Children's Hospital, Ludwig Maximilians University, Munich, Germany. simon.urschel@med.uni-muenchen.de
Kayikci
Lale
L
Wintergerst
Uwe
U
Notheis
Gundula
G
Jansson
Annette
A
Belohradsky
Bernd H
BH
D000293:Adolescent; D001327:Autoimmune Diseases / Q000150:complications / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D006967:Hypersensitivity / Q000150:complications / Q000276:immunology; D007223:Infant; D007239:Infections / Q000150:complications / Q000276:immunology; D008297:Male; D012008:Recurrence; D011795:Surveys and Questionnaires