Infections in 252 patients with common variable immunodeficiency.
BACKGROUND
Common variable immunodeficiency is characterized by recurrent infections and defective immunoglobulin production.


METHODS
The DEFI French national study prospectively enrolled adult patients with primary hypogammaglobulinemia. Clinical events before inclusion were retrospectively analyzed at that time.


RESULTS
From April 2004 through April 2007, 341 patients were enrolled, 252 of whom had received a diagnosis of common variable immunodeficiency; of those, 110 were male, 142 were female, and 228 were white. The median age at first symptoms was 19 years. The median age at common variable immunodeficiency diagnosis was 33.9 years. The median delay for diagnosis was 15.6 years for the 138 patients with initial symptoms before 1990 and 2.9 years for the 114 patients with initial symptoms from 1990 to the time of the study. The most frequent initial symptoms were upper respiratory tract infections: bronchitis (in 38% of patients), sinusitis (36%), pneumonia (31%), and/or bronchiectasis (14%). Overall, 240 patients had respiratory symptoms. Pneumonia was reported in 147 patients; Streptococcus pneumoniae and Haemophilus influenzae were documented in 46 and 17 cases, respectively. Recurrent or chronic diarrhea was reported in 118 patients. Giardia (35 cases), Salmonella (19), and Campylobacter (19) infections were more frequent in patients with undetectable serum immunoglobulin A (P<.001). Sixteen patients developed opportunistic infections. Persistent infections and requirement for antibiotics despite immunoglobulin substitution correlated with severe defect of memory switched B cells (P=.003) but not with immunoglobulin G trough levels (P=.55).


CONCLUSIONS
Although reduced within the past decade, the delay of diagnosis of common variable immunodeficiency remains unacceptable. Recurrence of upper respiratory tract infection or pneumonia should lead to systematic evaluation of serum immunoglobulin.
Oksenhendler
Eric
E
Department of Clinical Immunology, Hôpital Saint-Louis, Paris, France.
Gérard
Laurence
L
Fieschi
Claire
C
Malphettes
Marion
M
Mouillot
Gael
G
Jaussaud
Roland
R
Viallard
Jean-François
JF
Gardembas
Martine
M
Galicier
Lionel
L
Schleinitz
Nicolas
N
Suarez
Felipe
F
Soulas-Sprauel
Pauline
P
Hachulla
Eric
E
Jaccard
Arnaud
A
Gardeur
Anaelle
A
Théodorou
Ioannis
I
Rabian
Claire
C
Debré
Patrice
P
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002648:Child; D017074:Common Variable Immunodeficiency / Q000150:complications*; D003141:Communicable Diseases / Q000453:epidemiology / Q000209:etiology*; D003967:Diarrhea / Q000453:epidemiology / Q000209:etiology; D005260:Female; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008297:Male; D008875:Middle Aged; D011014:Pneumonia / Q000453:epidemiology / Q000209:etiology; D015995:Prevalence; D012141:Respiratory Tract Infections / Q000453:epidemiology / Q000209:etiology; D013997:Time Factors
D000900:Anti-Bacterial Agents; D007074:Immunoglobulin G