Lee, Jeongeun;Rhee, Minhee;Min, Taek Ki;Bang, Hae In;Jang, Mi-Ae;Kang, Eun-Suk;Kim, Hee-Jin;Yang, Hyeon-Jong;Pyu, Bok Yang
Clinical and Experimental Pediatrics
/
v.59
no.sup1
/
pp.49-52
/
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 presented with recurrent sinusitis and otitis media after 6 months of age, and had a family history of 2 maternal uncles with XLA. Laboratory tests revealed a profound deficiency of Ig isotypes, and a decreased count of $CD19^+$ B cells in the peripheral circulation. Based on his family history and our laboratory test results, he was diagnosed with XLA. We performed BTK gene analysis of peripheral blood samples obtained from family members to confirm the diagnosis. Mutational analysis revealed a novel hemizygous frameshift mutation (c.82delC, p.Arg28Alafs*5), in the BTK gene. His mother and maternal grandmother were heterozygous carriers of this mutation and his two maternal uncles were hemizygous at the same position. After XLA diagnosis, intravenous immunoglobulin (400 mg/kg, monthly) treatment was initiated; recurrent sinusitis and otitis media were subsequently brought under control. To our knowledge, this is the first reported case of a Korean pedigree with a novel mutation in the BTK gene.
Neonatal alloimmune thrombocytopenia (NAIT) is induced by maternal antibodies to fetal platelet alloantigens. Because the main cause of NAIT is incompatibility to platelet specific antibodies, NAIT due to HLA antibodies are relatively rare. We managed a case of NAIT induced by maternal anti-HLA-B35 antibodies. The patient was a second born male. He had no petechiae or purpura at birth. He was admitted to the hospital due to fever for 5 days and a platelet count of $106\times10^9/L$. The fever subsided after admission but on the 2nd day of admission, petechiae developed on the chest wall and the platelet count decreased to $25\times10^9/L$. Other laboratory findings included C-reactive protein, prothrombin time, and partial thromboplastin time were normal. His mother's platelet count was normal and she had no history of bleeding. Anti-HLA-B35, B52, B56, C3, and C14 were identified in the mother's serum by a panel reactive antibody test and HLA-B35 antigen was identified in the father's and patient's sera. These finding suggested that maternal Anti-HLA-B35 antibody was a response to neonatal HLA-B35 antigen inherited from the father. The patient received concentrated platelet and intravenous immunoglobulin. The platelet count rose to $248\times10^9/L$ and was maintained thereafter.
Han, Ae Ra;Lee, Dayong;Kim, Seul Ki;Choo, Chang Woo;Park, Joon Cheol;Lee, Jung Ryeol;Choi, Won Jun;Jun, Jin Hyun;Rhee, Jeong Ho;Kim, Seok Hyun;Korean Society for Reproductive Medicine (KSRM),;Korean Society for Reproductive Immunology (KSRI),;Korean Society for Assisted Reproduction (KOSAR),
Clinical and Experimental Reproductive Medicine
/
v.49
no.1
/
pp.2-8
/
2022
Humanity is in the midst of the coronavirus disease 2019 (COVID-19) pandemic, and vaccines-including mRNA vaccines-have been developed at an unprecedented speed. It is necessary to develop guidelines for vaccination for people undergoing treatment with assisted reproductive technology (ART) and for pregnancy-related situations based on the extant laboratory and clinical data. COVID-19 vaccines do not appear to adversely affect gametes, embryos, or implantation; therefore, active vaccination is recommended for women or men who are preparing for ART. The use of intravenous immunoglobulin G (IVIG) for the treatment of immune-related infertility is unlikely to impact the effectiveness of the vaccines, so COVID-19 vaccines can be administered around ART cycles in which IVIG is scheduled. Pregnant women have been proven to be at risk of severe maternal and neonatal complications from COVID-19. It does not appear that COVID-19 vaccines harm pregnant women or fetuses; instead, they have been observed to deliver antibodies against severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) to the fetus. Accordingly, it is recommended that pregnant women receive COVID-19 vaccination. There is no rationale for adverse effects, or clinical cases of adverse reactions, in mothers or neonates after COVID-19 vaccination in lactating women. Instead, antibodies to SARS-CoV-2 can be delivered through breast milk. Therefore, breastfeeding mothers should consider vaccination. In summary, active administration of COVID-19 vaccines will help ensure the safe implementation of ART, pregnancy, and breastfeeding.
Hwang, Dae Hwan;Sin, Kyoung Mi;Choi, Kyong Min;Choi, Jae Young;Sul, Jun Hee;Kim, Dong Soo
Clinical and Experimental Pediatrics
/
v.48
no.4
/
pp.416-424
/
2005
Purpose : To find the risk factors associated with coronory artery lesions, non-responsiveness to intravenous immunoglobulin(IVIG) treatment, and recurrences in Kawasaki disease patients. Methods : We retrospectively analyzed 1,000 Kawasaki disease patients who were admitted to Yonsei University Medical Center from September 1990 to December 2003. We compared between responder and non-responder groups to IVIG treatment as well as between relapsed and non-relapsed groups, and as to the relapsed group, we also compared variables between patients in their first and second attack states. Finally, factors associated with longer-fever duration from disease onset were evaluated. Results : Longer fever durations before and after IVIG treatment, male sex, lower Hgb and Hct level, higher WBC count and segmented WBC proportion, and higher CRP and Harada's score were related with coronary artery lesions. Non-responsiveness was related to higher WBC count, segmented WBC proportion, CRP, SGPT, Harada's score, and pyuria. Moderate-to-severe coronary artery dilatations and recurrences were more commonly seen among the non-responder group. No significant predictive factors for recurrence were found. In the relapsed group, lower WBC count, CRP, and shorter fever duration from disease onset were observed in their second attack state. Fever duration from disease onset showed positive correlation with WBC count, CRP, and Harada's score and negative correlation with Hgb levels. Conclusion : Higher WBC count, CRP, and higher Harada's score were related to both higher incidences of coronary artery lesions and non-responsiveness to IVIG treatment, and these factors were also related with longer fever duration. Non-responders to IVIG treatment showed higher recurrence rate and more moderate-to-severe coronary artery dilatations than responders.
Purpose : Homocysteine is a strong and independent risk factor for cardiovascular disease. The deleterious effects of homocysteine included endothelial dysfunction, arterial intimal-medial thickening, wall stiffness and procoagulant activity. However, the precise mechanism responsible for homocysteine release in children with coronary artery disease is still unknown. The purpose of this study was to investigate serum homocysteine and tumor necrosis $factor(TNF)-{\alpha}$ levels and identify whether these levels had any association with the development of coronary artery lesions in Kawasaki disease(KD). Methods : Serum homocysteine and $TNF-{\alpha}$ levels were measured in 24 KD patients(group 1, eight patients with normal coronary artery; group 2, 16 patients with coronary artery lesions) and 21 controls(group 3, 10 afebrile controls; group 4, 11 febrile controls). Blood samples were drawn from each study group before and after intravenous immunoglobulin(IVIG) therapy and in the convalescent stage. Results : The homocysteine levels before IVIG therapy were significantly higher in group 1 than in group 3, and in group 2 than in group 3 and 4. The $TNF-{\alpha}$ levels before IVIG therapy were significantly higher in group 2 than group 3 and 4. Serum homocysteine and $TNF-{\alpha}$ levels were highest in group 2 before IVIG therapy. In the acute KD patients, serum homocysteine levels correlated significantly with $TNF-{\alpha}$ levels. Conclusion : The increased serum homocysteine levels in the acute stage increase the susceptibility to coronary arterial lesions in KD. $TNF-{\alpha}$ may also play an important role in the formation of coronary arterial lesions in KD.
Purpose:The etiology of Kawasaki disease (KD) is still unknown. Recently, an association between human coronavirus NL63 (HCoV-NL63) and KD was implicated. Hence, we attempted to determine the association between KD and acute respiratory viral infections. Methods:Nasopharyngeal aspirate samples were obtained from 54 patients diagnosed with KD at the Seoul National University (SNU) Children's Hospital and SNU-Bundang Hospital between October 2003 and September 2006. Viral diagnoses of 11 respiratory viruses were made using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR): respiratory syncytial virus (RSV), adenovirus, rhinovirus (RV), parainfluenza viruses (PIVs) 1 and 3, influenza viruses (IFVs) A and B, human metapneumovirus (HMPV), human bocavirus (HBoV), HCoV OC43/229E, and HCoV-NL63. Clinical data were reviewed retrospectively. Results:The median age was 32 months (6 months-10.4 years). Respiratory symptoms were observed in 37 patients (69%). The following respiratory viruses were identified in 12 patients (22%): RV (n=4), PIV-3 (n=2), HBoV (n=2), and adenovirus, RSV, PIV-1, IFV-A, and HCoV-NL63 (n=1). Co-infection with PIV-3 and RV was observed in one patient. Respiratory symptoms were observed in 7 (58.3%) and 30 (71.4%) patients of the virus-positive and virus-negative groups (P>0.05). Response rate to intravenous immunoglobulin administration was 67% (n=8) and 86% (n=36) in the virus- positive and virus-negative groups (P>0.05). Conclusion:Respiratory symptoms were commonly observed in KD patients but the association between respiratory viruses and KD were not found. Large multicenter-based investigations are required to confirm the association between acute respiratory viral infections and KD.
Background: Guillain-Barre syndrome is defined as a recognizable clinical entity that is characterized by rapidly evolving symmetric limb weakness, the loss of tendon reflexes, absent or mild sensory signs, and variable autonomic dysfunctions. This study evaluated the clinical and electrophysiological findings retrospectively. Materials and Methods: Forty-five patients with Guillain-Barre syndrome, who were admitted to the Yeungnam University Hospital for six years from Jan. 1994 to Dec. 1999 were investigated. The correlation between the clinical manifestation and the electrophysiological study was evaluated. Results: The male to female ratio was 1.8:1 and there was a peak seasonal incidence in the winter. A preceding illness was noted in 66.7 % of cases, and an upper respiratory tract infection was the most common one. The most common clinical manifestations were a loss of tendon reflex and ascending muscle weakness and paralysis. The cerebrospinal fluid examinations revealed, albuminocytologic dissociation in 33 cases (73.3 %). Intravenous immunoglobulin therapy was performed in 29 cases (64.4 %). The sequential electrophysiological abnormalities were most marked at 2 to 4 weeks after onset. At that time the most significant change was a decrease in the compound muscle action potential amplitude. These 45 patients with Guillain-Barre syndrome were subclassified using the clinical and electrophysiological data. Conclusion: The result in this study, concured with other research on the clinical and electrophysiological data of Guillain-Barre syndrome. However, an extensive and dynamic investigation is necessary to determine the reason for the peak seasonal incidence in winter.
Kim, Minshik;Kim, Youngsook;Cho, Namji;Kim, Kyungsook
Pediatric Infection and Vaccine
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v.4
no.1
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pp.140-149
/
1997
Purpose : Kawasaki Disease(KD) is a febrile disease with acute multisystemic vasculitis which is seen commonly in early childhood. The cause and etiologic agents are still unknown to identify using ordinary bacterial and viral culture, but the clinical labaratory studies suggest that KD is one of autoimmune disorder caused by infectious agents, but that is not proved yet. The study was performed to investigate the IgG subclasses in acute stage of KB before treatment of IVIG(Intravenous immunoglobulin). Method : The 35 cases in acute stage of KD before treatment of IVIG who were hospitalized from jan. 1995 to dec. 1996. The obtained sera were measured level of total IgG, IgM, IgA, IgE and IgG subclasses IgGl, IgG2, IgG3, IgG4 by using EIA and SRID method. Results : 1) The sex ratio is male to female is 1.5: 1.0, and male is prone to infected. 2) Total IgG, IgM, IgA and IgE level is normal range with age adjusted, but few cases are shown slight high level of total IgG compare to normal range of age adjusted. 3) acute phage reactants such as CRP, C3, ESR are all increased in acute stage of cases. 4) IgG subclasses IgGl, IgG2, IgG3 are shown normal range of age adjusted, but remarkably low level of IgG4 in all of cases. Conclusions : The low level of IgG4 is able to increasing the incidence of KD, and may use early diagnostic tools combine with other clinical symptoms and signs. But the resulsts of reported studies are different to each other, so it needs more times and cases to get final evaluation of changes of serum immnunoglobulin levels correlate to increase the incidence of high risk group of KD patients.
Youn, Song Ee;Ju, Hee Young;Lee, Kyung Suk;Cha, Sung Ho;Han, Mi Young;Yoon, Kyung Lim
Pediatric Infection and Vaccine
/
v.23
no.2
/
pp.102-108
/
2016
Purpose: Kawasaki disease (KD) shows a variety of clinical signs of multi-system involvement, including clinical diagnostic criteria. It is unknown that the severity of the clinical signs is associated with the risk of coronary artery lesions (CALs). We wanted to evaluate clinical characteristics and the risk of CALs in the patient groups who had severe skin lesions or those with arthritis. Methods: We retrospectively reviewed the medical records of 220 KD patients who were treated with intravenous immunoglobulin (IVIG). We compared clinical and laboratory data between the group with severe skin lesions (n=52) and those with mild or no skin lesions (n=168), and between the group with arthritis (n=6) and those without arthritis (n=214). Results: The mean age of total patients was $2.23{\pm}1.87years$ of age, and the male-to-female ratio was 1.5:1 (138/82). Among 220 patients, 52 patients had CALs (23.6%), and 29 patients (13.2%) showed incomplete KD. The patients with CALs had a higher mean age, longer total fever duration, and higher rate of IVIG non-responsiveness. The patient group with severe skin lesions showed a higher mean age (P<0.001), more prolonged fever duration (P=0.041), higher frequency of CALs (P=0.033), higher WBC, neutrophil, and neutrophil-to-lymphocyte ratio levels, compared to the patient group without severe skin lesions. The patients with arthritis had a tendency of further treatment with methylprednisolone or infliximab. Conclusions: The frequency of CALs was higher in patient group with severe skin lesions. Our results suggest that the intensity of clinical signs of KD such as skin rash, cervical lymphadenopathy and possibly arthritis may be associated the risk of CALs.
Purpose : We evaluated the effectiveness of treatment and cardiac complications of replacing a high dose of aspirin with a high dose of ibuprofen for children in acute phase of Kawasaki disease. We also analyzed the possibility of replacing a high dose of aspirin with a high dose of ibuprofen to prevent complications such as Reyes syndrome caused by aspirin. Methods : One hundred eight children with Kawasaki disease were admitted in the pediatrics department from January 1, 2004 to December 31, 2008. Echocardiography and laboratory tests were performed during diagnosis, and the children were followed-up at 6-8 weeks after the diagnosis. We retrospectively analyzed their characteristics and clinical results. Results : The children were assigned to receive either a high dose of aspirin with intravenous immunoglobulin (IVIG) (aspirin group) or a high dose of ibuprofen with IVIG (ibuprofen group). A total of 55 and 53 children were included in the aspirin and ibuprofen groups, respectively. The mean defervescence period was 6.5${\pm}$2.1 days in the aspirin group, and $6.9{\pm}1.9$ days in the ibuprofen group (P=0.309). The number of failed treatments, during and after treatment, was 8 in the aspirin group and 10 in the ibuprofen group (P=0.547). There were 11 initial cardiac complications in the aspirin group, and 14 in the ibuprofen group, but children who showed improvement at follow-up was 7 and 13 in the aspirin and ibuprofen groups, respectively (P=0.133). Laboratory findings were also improved in both groups. Conclusion : We can be considered whether we will replace high dose of aspirin by high dose of ibuprofen in acute phase of Kawasaki disease. Therefore, we can prevent the severe complications of aspirin use, such as Reye's syndrome.
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