Pediatr Allergy Respir Dis.  2005 Dec;15(4):368-380.

A Clinical Study of Primary Immunodeficiency Disease in a Single Center in Seoul from 1996 to 2004

• Lee JH
• Sohn WY
• Park HY
• Hwang SJ
• Seo WH
• Kim SJ
• Ahn SH
• Jo EK
• Ahn KM
• Lee SI

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.

Keyword

Primary immunodeficiency; Common variable immunodeficiency; X-linked agammaglobulinemia; Severe combined immunodeficiency; Selective IgA deficiency; Hyper IgM syndrome; Chronic granulomatous disease

MeSH Terms

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
Immunoglobulins, Intravenous