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Review Article
Immunology
Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns
Evgenia Olegovna Khalturina, Natalia Dmitrievna Degtyareva, Anastasiia Vasi’evna Bairashevskaia, Alena Valerievna Mulenkova, Anna Vladimirovna Degtyareva
Clin Exp Pediatr. 2021;64(10):504-510.   Published online March 25, 2021
· Neonatal screening for primary immunodeficiency diseases (PIDs) enables early diagnosis and subsequent initiation of therapy.
· Excision of T-cell receptors and kappa-recombination excision circles are cheaper alternative PID screening methods.
· Sanger DNA sequencing remains the reference method for detecting PID; however, next-generation sequencing technology is increasingly used to diagnose it.
· Here we developed a graphical algorithm for diagnosing primary immunodeficiency syndrome based on modern methods of screening for primary immunodeficiencies in newborns.
Review article
Immunology
Systematic review of literature and analysis of big data from the National Health Insurance System on primary immunodeficiencies in Korea
Sohee Son, Ji-Man Kang, Younsoo Hahn, Kangmo Ahn, Yae-Jean Kim
Clin Exp Pediatr. 2021;64(4):141-148.   Published online July 13, 2020
In this article, a systematic review of reported primary immunodeficiency disease (PID) cases in Korea was performed and we attempted to estimate the number of PID patients and healthcare costs for the first time in Korea. Our review revealed that Korean PID cases are greatly underreported in the literature based on health insurance. Physicians in the field and health care policymakers should be aware of the disease burden of PID.
Case Report
Immunology
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Clin Exp Pediatr. 2016;59(Suppl 1):S49-S52.   Published online November 30, 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy...

A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
Ji-man Kang, Jungmun Suh, Jihyun Kim, Hee-Jin Kim, Yae-jean Kim, Hun Seok Lee, Young Kee Shin, Kangmo Ahn, Sang-Il Lee
Clin Exp Pediatr. 2010;53(4):592-597.   Published online April 15, 2010
Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene (stat3) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent...
Clinical Lecture
Approach to the Children with Recurrent Infections
Jae Ho Lee
Clin Exp Pediatr. 2005;48(5):461-468.   Published online May 15, 2005
The major function of immune system is to protect infections. The immune systems are composed of innate and adaptive immunity. In adaptive immunity, the cellular and humoral components interact each other. Neonates and infants are infected frequently, because immune systems are naive and easy to expose to infectious agents. The complete history and physical examination is essential to evaluate the...
Medical Lecture Course
Impact of Host Genetics on Susceptibility and Outcome of Viral Infections
Eun Hwa Choi
Clin Exp Pediatr. 2004;47(8):815-820.   Published online August 15, 2004
The generation of a draft sequence of the human genome has lead to an opportunity to characterize human diversity, including the differences in host response to numerous pathogens. Host responses upon exposure to a pathogen can determine the wide spectrum of illness from subclinical or mild to severe diseases. Host factors, particularly genetic backgrounds, influence the pathogenesis of infectious diseases....
Clinical Lecture
Detection and Diagnosis of Primary Immunodeficiency Diseases
Youn-Soo Hahn
Clin Exp Pediatr. 2004;47(5):475-479.   Published online May 15, 2004
Primary immunodeficiency diseases result from innate defects of immune system. As a consequence, recurrent viral, bactrial, fungal, and protozoal infections of varying severity ensue. Although primary immunodeficiency diseases are relatively rare, intensive study of these disorder has expanded our understanding of immunity. Recent progress in immunobiology and genetics has identified the causes of many of the primary immunodeficiency diseases. Diagnosis...
Case Report
A Case Of Common Variable Immunodeficiency with Fatal Measles
Su Jin Cho, So Hyun Kim, Soo Jung Lee, Kyung Ha Yoo, Kyung Hyo Kim
Clin Exp Pediatr. 2001;44(12):1463-1468.   Published online December 15, 2001
Common variable immunodeficiency(CVID) is a heterogeneous immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, and a variety of immunological abnormalities. We report a 10-year-old boy diagnosed with CVID and a fatal case of measles. He was admitted for fever, cough, conjunctival injection with purulent discharge and maculopapular rash with some scattered pinpoint sized petechial lesions on the whole body for...
An Infant with Vertical Transmission of Human Immunodeficiency Virus Infection Detected Due to Failure to Thrive
Byung Wook Eun, Ho Kyung Lim, Yun Kyung Kim, Yuong Ho Kwak, Jung Youn Hong, He Sun Jung, Kyung Mo Kim, Hoan Jong Lee
Clin Exp Pediatr. 2001;44(5):592-596.   Published online May 15, 2001
Five to fifteen percent of patients affected by human immunodeficiency virus(HIV) are children in developing countries. In Korea, most of HIV infections in children have been transfusion-related, and cases of vertical transmission have been very rare so far and are usually suspected due to a maternal positive history. We experienced a case of vertical transmission of HIV in a 19...
Original Article
Immunologic Characteristics of CATCH 22 Syndrome
Hye Young Ryu, Eun Kyung Jo, Eun Jung Cheon, Hong Ryang Kil, Jae Ho Lee
Clin Exp Pediatr. 2000;43(11):1423-1429.   Published online November 15, 2000
Purpose : Microdeletion of chromosome 22q11.2 are associated with DiGeorge syndrome(DGS), velocardiofacial syndrome(VCFS) and conotruncal anomaly face syndrome(CTAFS). DGS was originally described as an immunodeficiency disorder secondary to impaired T cell production due to thymic aplasia or hypoplasia. But the frequency & severity of immunodeficiency of other clinical syndromes associated with the chromosome 22q11 deletion has not been investigated. This...
Case Report
A Case of Common Variable Immunodeficiency with Autoimmune Hemolytic Anemia
Kyung-Yil Lee, Yon-Joo Lee, Sang-Won Cha, Dong Joon Lee, Ji-Whan Han, Kyung-Tae Whang, Joong-Gon Kim
Clin Exp Pediatr. 2000;43(1):117-122.   Published online January 15, 2000
Common variable immunodeficiency(CVID) is a heterogeneous collection of disorders with hypogammaglobulinemia with recurrent bacterial infections and high incidence of autoimmune disorders as its hallmark. We report a 7-year-old girl suffering from CVID with Coombs' test positive hemolytic anemia. She had been relatively well until 23-months old when she was admitted to Taejon St. Mary' s Hospital with pneumonia 5 years ago. Afterwards, she had...
A Case of Nezelof's Syndrome
Hyeon Tae Kim, Nok Hong Kim, Eun Yeong Seol, Ki Hyun Chun, Kung Ho Lee, Mun Ki Cho, Kung Ran Choi
Clin Exp Pediatr. 1996;39(11):1620-1626.   Published online November 15, 1996
Nezelof's syndrome(combined immunodeficiency with immunoglobulin) is a hereditary primary immunodeficiency characterized by recurrent chronic pulmonary infections, oral and cutaneous candidiasis, failure to thrive, chronic diarrhea, skin infection, urinary tract infection, gram-negative sepsis, severe progressive varicella infection, lymphopenia, diminished lymphoid tissue, abnormal structure of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody...
Effect of Cultured Thymic Epithelium Transplantation in a Patients with Severe Combined Immunodeficiency
Soo Kyung Yun, Byoung Ho Cha, Woo Seung Jeoun, Dong Soo Kim
Clin Exp Pediatr. 1992;35(10):1443-1448.   Published online October 15, 1992
Severe combined immunodeficiency disease is caused by a group of genetic disease characterized by abnormal function of T and B lymphocytes. The treatment of choice for severe combined immunodeficiency disease is a HLA mached bone marrow transplant, but transplantation of cultured thymus epithelium was used to treat severe combined immunodeficiency disease in case of that mached, related bone...
Acquired Persistent Cytomegalovirus Infection : An Association with Common Variable Immunodeficiency
Min Hyea Kim, Young Mi Hong, Sung Joo Lee, Je Geun Chi, Dong Soo Kim
Clin Exp Pediatr. 1992;35(9):1272-1279.   Published online September 15, 1992
Acquired persistent cytomegalovirus infection was diagnosed by anti CMV antibody and lymph node biopsy and persisted in a 3-year-old boy with recurrent episode of high fever, lymphadenopathy hepatosplenomegaly and pneumonia. Initial immunologic abnormalities including low serum IgG, high IgM decreased T4 and T4/T8 ratio finally progressed to immunologic paralysis which was compatible to common variable immunodeficiency. This is the first case which...
Original Article
A Case of Patient with Common Variable Immunodeficiency.
Keun Cheon Kim, Chang Gee Kang, Chang Hyun Yang, Dong Soo Kim, Kir Young Kim
Clin Exp Pediatr. 1989;32(8):1123-1127.   Published online August 31, 1989
Common variable immunodeficiency, as defined by World Health Organization classification of primary immunodeficiency, is a heterogenous group of disorders with hypogammaglobulinemia, decreased ability to produced antibody following antigenic challenge, and increased incidence of infections. The disorder was often familial, but no mode of inheritance has been discerned. Clinical fingings are recurrent bacterial infections, particularly respiratory infection. Laboratory evaluations in common variable immunodeficiency demonstrate decrease in...
Primary Immunode Ficiency Disorders in Infancy and Childhood.
Hoan Jong Lee, Jung han Choi, Jeong Kee Seo, Hyo Sup Ahn, Kwang Wook Ko
Clin Exp Pediatr. 1985;28(3):263-282.   Published online March 31, 1985
The immunodeficiency disorders are a diverse group of illness which results from defectsin one or more of the four major mechanisms of immune system-antibody-mediated(B cell) immunity, cell-mediated(T cell) immunity, phagocytosis, and complements. Though immunodeficiency disorders are uncommon, the possibility should be considered in any individuals with recurrent or persistent infection. During the period between January, 1973 and October, 1984, we...
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