A Clinical Study of Primary Immunodeficiency Disease in a Single Center in Seoul from 1996 to 2004.
- Author:
Jee Hyun LEE
1
;
Woo Yun SOHN
;
Hwa Young PARK
;
Su Jung HWANG
;
Won Hee SEO
;
Su Jung KIM
;
So Hyun AHN
;
Eun Kyeong JO
;
Kang Mo AHN
;
Sang Il LEE
Author Information
1. Department of Pediatrics, Sungkyunkwan University School of Medicine, Seoul, Korea. kmaped@smc.samsung.co.kr
- Publication Type:Original Article
- Keywords:
Primary immunodeficiency;
Common variable immunodeficiency;
X-linked agammaglobulinemia;
Severe combined immunodeficiency;
Selective IgA deficiency;
Hyper IgM syndrome;
Chronic granulomatous disease
- MeSH:
Abscess;
Agammaglobulinemia;
Arthritis, Infectious;
Bone Marrow Transplantation;
Child;
Common Variable Immunodeficiency;
Diagnosis;
Early Diagnosis;
Female;
Granulomatous Disease, Chronic;
Hospital Distribution Systems;
Humans;
Hyper-IgM Immunodeficiency Syndrome;
IgA Deficiency;
Immunoglobulins, Intravenous;
Korea;
Male;
Medical Records;
Meningitis, Bacterial;
Mortality;
Otitis Media;
Pneumonia, Bacterial;
Prognosis;
Respiratory Tract Infections;
Retrospective Studies;
Seoul*;
Severe Combined Immunodeficiency;
Sinusitis;
Tuberculosis, Pulmonary
- From:Pediatric Allergy and Respiratory Disease
2005;15(4):368-380
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Although primary immunodeficiency disorders are relatively rare, early diagnosis provides the opportunity to reduce morbidity and mortality. The aim of this study was to investigate disease distribution, clinical manifestations, genetic mutation, treatment and prognosis of primary immunodeficiency disorders of childhood. METHODS: We retrospectively reviewed the medical records of 15 cases with primary immunodeficiency disorders between 1996 and 2004 in Samsung Seoul Hospital, Seoul, Korea. RESULTS: The most common primary immunodeficiency was common variable immunodeficiency (CVID) (n=7), followed by X-linked agammaglobulinemia (XLA) (n=3), severe combined immunodeficiency (SCID) (n=2), hyper IgM syndrome (n=1), selective IgA deficiency (n=1), and chronic granulomatous disease (CGD) (n=1). Most cases had recurrent infections such as otitis media, bacterial pneumonia, sinusitis and other respiratory infections during infancy. The age at diagnosis ranged from 4 months to 17 years with a median age of 5 years. The male to female ratio was 11 to 4. Eleven patients were diagnosed with primary immunodeficiency diseases following respiratory infection, while the other 4 patients had pulmonary tuberculosis, perianal abscess, bacterial meningitis, septic arthritis. All the patients with XLA and CVID were regularly treated with IVIG. Two cases of SCID underwent successful bone marrow transplantation without complications. The patients with hyper IgM syndrome died due to severe infection even after bone marrow transplantation. CONCLUSION: Fifteen variable cases of primary immunodeficiency were diagnosed during 9 years. A high index of suspicion is required in children with recurrent or severe infections for the diagnosis of primary immunodeficiency, because early diagnosis and treatment can reduce mortality and morbidity.
