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Objectives: We
analyzed the clinical features of 138
patients with primary immunodeficiency (PID)
and performed genetic testing on a subset of
patients in order to complete gaps in
research on PID in South China and thus
improve pediatricians' ability to recognize
and diagnose PID.
Methods: We performed a retrospective
analysis based on the medical records of PID
patients hospitalized in our institution
between May 1999 and June 2012. Gene
sequencing was performed in 59 cases.
Results: Children with PID usually
present with fever and repeated infections
that generally affect the respiratory and
digestive tracts. Growth retardation is
observed in some cases. Of the 138 patients,
113 were boys, median age at onset was 5
months (range, 0-119 months), and
age at diagnosis was 10 months (2-159
months). A family history of repeated
infection or death of family members in
infancy because of recurrent infections was
recorded in 20 cases (14.49%). Antibody
defects were detected in 48 cases (34.78%),
combined immunodeficiency disease in 45
cases (32.61%), and other well-defined
immunodeficiency syndromes in 45 cases
(32.61%). Of the 59 patients from the
genetic subanalysis, 24 (15.94%) had a
genetic mutation (x-linked
agammaglobulinemia, 8 cases; severe combined
immunodeficiency, 8 cases;
hyperimmunoglobulin M syndrome, 3 cases;
hyperimmunoglobulin E syndrome, 3 cases;
chronic granulomatous disease, 2 cases). We
detected 4 novel mutations. No relevant
mutations were found in the remaining 35
cases. After treatment with intravenous
immunoglobulin and anti-infectious agents,
16 patients died in hospital, and 5 cases
died after discontinuing treatment
(mortality, 15.22%).
Conclusions: In recent years, the
number of patients with PID has risen
gradually in South China. Genetic testing
can confirm diagnosis. Since PID seriously
affects childrens quality of life, it is
important to diagnose, treat, and intervene
early. We hope our clinical and genetic
analyses of children with PID can provide
diagnostic guidance for clinicians.
Key words: Primary immunodeficiency.
Clinical features. Gene. Chinese. |
