• Clinical and Experimental Pediatrics
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• v.59 no.6
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• pp.252-255
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• 2016

Purpose: Pneumocystis jirovecii pneumonia occurs in various immunocompromised patients. Despite the prophylaxis strategies in clinical practice, certain patients develop P. jirovecii pneumonia. This study was performed to investigate pediatric cases with P. jirovecii pneumonia in a single center. Methods: We identified pediatric patients younger than 19 years with microbiologically confirmed P. jirovecii pneumonia from January 2000 to February 2014. A retrospective chart review was performed. Results: Fifteen episodes of P. jirovecii pneumonia in 14 patients were identified with median age of 8.3 years (range, 0.4-18.6 years). Among these patients, 11 patients had hematology-oncology diseases, 2 had primary immunodeficiency disorders (one with severe combined immunodeficiency and the other with Wiskott Aldrich syndrome), 1 had systemic lupus erythematosus and 1 received kidney transplant. Four patients were transplant recipients; 1 allogeneic and 2 autologous hematopoietic cell transplant and 1 with kidney transplant. The median absolute lymphocyte count at the diagnosis of P. jirovecii pneumonia was $5,156cells/mm^3$ (range, $20-5,111cells/mm^3$). In 13 episodes (13 of 15, 86.7%), patients were not receiving prophylaxis at the onset of P. jirovecii pneumonia. For treatment, trimethoprim/sulfamethoxazole was given as a main therapeutic agent in all 15 episodes. Steroid was given in 9 episodes (60%). Median treatment duration was 15 days (range, 4-33 days). Overall mortality at 60 days was 35.7% (5 of 14). Conclusion: Majority of our patients developed P. jirovecii pneumonia while not on prophylaxis. Continuous efforts and more data are needed to identify high risk patients who may get benefit from P. jirovecii pneumonia prophylaxis.

• Pediatric Infection and Vaccine
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• v.29 no.1
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• pp.54-60
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• 2022

Salmonella meningitis is rare yet poses causes significant neurological morbidity in children. Infants, especially those under 3 months of age, and those with immunocompromised states, such as malignancy, malaria, and human immunodeficiency virus infection, are at increased risk for developing Salmonella meningitis. Herein, we describe a case of Salmonella meningitis in a previous healthy 8-year-old girl who presented with high fever, vomiting, and altered mental status. Group D Salmonella species were isolated in cerebrospinal fluid culture, and no abnormal findings were noted in brain magnetic resonance imaging. Immunoglobulin levels and lymphocyte subset counts were within the normal ranges, and no genetic mutation responsible for primary immunodeficiency disease was detected by next-generation sequencing. The patient's condition improved rapidly with third-generation cephalosporin, and no complications or sequalae developed. Nontyphoidal Salmonella can cause meningitis in immunocompetent children and can be successfully treated with early administration of antibiotics.

• Pediatric Infection and Vaccine
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• v.24 no.3
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• pp.134-140
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• 2017

Purpose: Severe combined immunodeficiency (SCID) is the most serious form of primary immunodeficiency. Infants with SCID are susceptible to life-threatening infections. To establish newborn screening for SCID in Korea, we performed a screening test for T-cell receptor excision circle (TREC) and ${\kappa}$-deleting recombination excision circle (KREC) in neonates and investigated the awareness of SCID among their parents. Methods: Collections of dried blood spots from neonates and parent surveys were performed at the Samsung Medical Center and Cheil General Hospital & Women's Healthcare Center in Korea. The amplification crossing point (Cp) value <37.0 was defined as TREC/KRECpositive based on cutoff values from measuring multiplex real-time polymerase chain reaction. A Cp value >39.0 was defined as negative. Results: For TREC/KREC screening, 141 neonates were enrolled; 63 (44.7%) were male. One hundred forty neonates (99.3%) had positive TREC/KREC results at the time of the initial test; 82.3% and 75.9% were positive and 17.0% and 23.4% were weakly positive for TREC and KREC, respectively. In one neonate (0.7%), the initial TREC/KREC test result was negative. However, repeated tests obtained and confirmed a positive result. For an awareness survey, 168 parents were engaged. Only 2% of parents (3/168) knew that the newborn screening test for SCID had been introduced and performed in other countries. Eighty-four percent of parents (141/168) replied that nationwide newborn SCID screening should be performed in Korean newborns. Conclusions: In this study, newborn SCID screening was performed along with assessment of public awareness of the SCID test in Korea. The study results showed that newborn SCID screening can be readily applied for clinical use at a relatively low cost in Korea.

• Journal of Chest Surgery
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• v.34 no.7
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• pp.539-546
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• 2001

Background: Pulmonary complications in immunocompromised patients are often fatal. Empirical treatment is usually applied based on the clinical and radiological findings because of the risk of the aggressive diagnostic procedures such as open lung biopsy. However, recent advancements in operative procedures and perioperative management has decreased the procedure-related risks. We have prospectively analyzed the risks and benefits of the early application of open lung biopsy in such patients. Material and Method: Forty-two consecutive immunocompromised patients with critical pulmonary complications were included from June, 1996 to December, 1999. The definition of the immunocompromised is as those with chemotherapy and/or other modality for hematologic disorders, with usage of immunosuppressive drug after transplantation, with usage of steroid for more than 1 month, and with primary immunodeficiency disorders. The indication of open lung biopsy was those with no significant improvement after a week of aggressive application of empirical treatment or with rapidly aggressive process. The underlying disease included hematologic disorder(31 patients), post-transplantation(3 patients), chemotherapy for solid tumor(2 patients), and others(6 patients). Operations were done through thoracotomy(conventional or mini-) or VATS.

• Pediatric Infection and Vaccine
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• v.13 no.2
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• pp.201-205
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• 2006

Immunodeficiency affected by antibody formation is most common among primary immuno-deficiencies. Selective IgA deficiency is more common but, one or more IgG subclass level is low or deficient in some patients. Patients with antibody production deficiency are vulnerable to pneumococci, staphylococci and H.influenzae leading to sinusitis, otitis media and pneumonia. A 10-year-old girl had suffered from frequent upper respiratory infections, a history of tuberculous lymphadenitis tuberculosis medication, and frequent pneumonia that requires hospital adimission. Her height and weight were below 3 percentile normal growth as a manifestation of failure to thrive. When she had another severe pneumonia, all the immunologic test was normal at first, and then we checked the IgG subclass levels. Her IgG1 was within normal, IgG2 was very low, IgG3 and IgG4 was not detected. We report a case of IgG subclass deficiency in frequent upper respiratory infection and failure to thrive.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.92-96
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• 2018

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

• Tuberculosis and Respiratory Diseases
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• v.65 no.3
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• pp.207-211
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• 2008

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).

• Tuberculosis and Respiratory Diseases
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• v.85 no.1
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• pp.56-66
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• 2022

Background: Because the etiologies of bronchiectasis and related diseases vary significantly among different regions and ethnicities, this study aimed to develop a diagnostic bundle for bronchiectasis in South Korea. Methods: A modified Delphi method was used to develop expert consensus statements on a diagnostic bundle for bronchiectasis in South Korea. Initial statements proposed by a core panel, based on international bronchiectasis guidelines, were discussed in an online meeting and two email surveys by a panel of experts (≥70% agreement). Results: The study involved 21 expert participants, and 30 statements regarding a diagnostic bundle for bronchiectasis were classified as recommended, conditional, or not recommended. The consensus statements of the expert panel were as follows: A standardized diagnostic bundle is useful in clinical practice; diagnostic tests for specific diseases, including immunodeficiency and allergic bronchopulmonary aspergillosis, are necessary when clinically suspected; initial diagnostic tests, including sputum microbiology and spirometry, are essential in all patients with bronchiectasis, and patients suspected with rare causes such as primary ciliary dyskinesia should be referred to specialized centers. Conclusion: Based on this Delphi survey, expert consensus statements were generated including specific diagnostic, laboratory, microbiological, and pulmonary function tests required to manage patients with bronchiectasis in South Korea.

• Pediatric Infection and Vaccine
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• v.24 no.3
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• pp.152-159
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• 2017

Purpose: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children's Hospital. Methods: Fourteen Korean boys with XLA showing serum agammaglobulinemia, non-detectable to less than 2% of peripheral B-cells, and mutation of the Btk gene were enrolled. We observed the clinical features, laboratory findings, status of treatment, and complications in these XLA patients. Results: All XLA patients had a history of recurrent bacterial infections before diagnosis, and 20% of them had a neutropenia. Of the XLA patients 35.7% had a family history of XLA and 75% of their mothers were carriers. Btk gene analysis showed variable gene mutations in Xq22 including 9 amino acid substitutions, 3 frameshifts, 1 premature stop codon, and 1 splice defect. After intravenous immunoglobulin replacement therapy, infection episodes decreased, but complications such as bronchiectasis and chronic sinusitis remained. Conclusions: In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.

• Journal of agricultural medicine and community health
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• v.40 no.2
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• pp.72-79
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• 2015

Objectives: To identify the importance of preventing tuberculosis for HIV (Human Immunodeficiency Virus) infectees and to monitor their management of health, we investigated the proportion of HIV-TB (Tuberculosis) deaths among the HIV deaths and its related factors. Methods: Data for HIV deaths from 2002 to 2010 was acquired from Statistics Korea, after which the HIV deaths were reclassified into HIV-TB deaths or other deaths according to the KCD (Korean Classification of Diseases). We analyzed the proportion of HIV-TB deaths among HIV disease deaths and the relationship between HIV-TB deaths and related variables such as sex, age, educational level, marital status, etc. Results: There were 774 HIV deaths in South Korea between 2002 and 2010. TB was the main cause of death in 10.1% of all HIV deaths. The total proportion of HIV-TB deaths was 10.1% but its proportion reached 16.3% between 2005-2007 and then decreased to 4% in 2010. Also, the proportion of HIV-TB deaths was significantly high in the young age groups, but its proportion was significantly low in married groups and well educated groups (p<0.05). Conclusions: The result implies that the policy that takes care of HIV infectee regarding TB prevention has been getting systemized on a national scale. Also, HIV-TB deaths have been affected by social factors such as education and marriage status.