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1.
Artículo en Inglés | WPRIM | ID: wpr-1042349

RESUMEN

Purpose@#Post-transplantation lymphoproliferative disorders (PTLDs) after hematopoietic stem transplantation (HCT) or solid organ transplantation (SOT) result in poorer outcomes, including death. There are limited large cohort data on the incidence and natural course of PTLD in Asians. @*Materials and Methods@#We investigated PTLD using Korean national health insurance claims data of 47,518 patients who underwent HCT or SOT in 2008-2020. Patient demographics, time and type of PTLD diagnosis, type of PTLD treatment, and death data were collected. We used Fine and Gray subdistribution hazard models to calculate the cumulative incidence and risk factors for PTLD. @*Results@#During median follow-up of 5.32 years, PTLD occurred in 294 of 36,945 SOT patients (0.79%) and 235 of 10,573 HCT patients (2.22%). Cumulative incidence of PTLD were 0.49% at 1 year, 1.02% at 5 years, and 1.50% at 10 years post-transplantation. Age < 20 years (subdistribution hazard ratio [SHR] of 1.67 in age 10-19, SHR 1.51 in age 0-9), HCT (SHR 3.02), heart transplantation (SHR 2.27), and liver transplantation (SHR 1.47) were significant risk factors for PTLD. The presence of PTLD was associated with an increased risk of death (hazard ratio of 2.84). Overall, 5-year survival of PTLD patients was 68.9% (95% confidence interval, 64.9 to 73.2). @*Conclusion@#We observed a steady increase in PTLD over 10 years after HCT or SOT in this large cohort study. Pediatric age group, HCT, liver transplantation, and heart transplantation were suggested to be risk factors for PTLD, and PTLD was associated with a higher risk of death.

2.
Artículo en Inglés | WPRIM | ID: wpr-1043607

RESUMEN

Background@#We aimed to analyze the effects of an antimicrobial stewardship program (ASP) on the proportion of antimicrobial-resistant pathogens in bacteremia, antimicrobial use, and mortality in pediatric patients. @*Methods@#A retrospective single-center study was performed on pediatric inpatients under 19 years old who received systemic antimicrobial treatment from 2001 to 2019. A pediatric infectious disease attending physician started ASP in January 2008. The study period was divided into the pre-intervention (2001–2008) and the post-intervention (2009–2019) periods. The amount of antimicrobial use was defined as days of therapy per 1,000 patientdays, and the differences were compared using delta slope (= changes in slopes) between the two study periods by an interrupted time-series analysis. The proportion of resistant pathogens and the 30-day overall mortality rate were analyzed by the χ2 . @*Results@#The proportion of extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli and Klebsiella pneumoniae bacteremia increased from 17% (39 of 235) in the pre-intervention period to 35% (189 of 533) in the post-intervention period (P < 0.001). The total amount of antimicrobial use significantly decreased after the introduction of ASP (delta slope value = −16.5; 95% confidence interval [CI], −30.6 to −2.3; P = 0.049). The 30-day overall mortality rate in patients with bacteremia did not increase, being 10% (55 of 564) in the pre-intervention and 10% (94 of 941) in the post-intervention period (P = 0.881). @*Conclusion@#The introduction of ASP for pediatric patients reduced the delta slope of the total antimicrobial use without increasing the mortality rate despite an increased incidence of ESBL-producing gram-negative bacteremia.

3.
Artículo en Inglés | WPRIM | ID: wpr-1045119

RESUMEN

Chikungunya fever, a viral illness transmitted to humans through the bites of infected mosquitoes, presents with symptoms such as high fever, severe myalgia, headache, arthralgia, rash, and vomiting. This disease predominantly manifests in Southeast Asia, Africa, and Central and South America, with a limited occurrence in Northeast Asia. To date, no such a documented case has been reported in South Korea. Herein, we present the first adolescent case of chikungunya fever in South Korea following a travel to Bali, Indonesia.

4.
China Pharmacist ; (12): 336-344, 2024.
Artículo en Chino | WPRIM | ID: wpr-1025952

RESUMEN

Objective To provide pharmaceutical monitoring using the Pharmaceutical Care Network Europe(PCNE)for patients with respiratory diseases,to explore effective pharmaceutical monitoring models in the department of respiratory,and to promote clinical rational drug use.Methods Inpatients diagnosed with chronic obstructive pulmonary disease(COPD)and lung infections in 2022 at the First Affiliated Hospital of Anhui University of Science and Technology were selected and divided into a simple group and an intervention group.According to the PCNE classification system,the types,causes,interventions,acceptance of interventions,and resolution status of drug-related problems(DRPs)were analyzed.Results A total of 120 cases were included,60 cases in the simple group and 60 cases in the intervention group.Regarding the number of DRPs,there were 15 cases in the simple group and 45 cases in the intervention group,and there was a significant difference between the two groups(P<0.05).There were a total of 82 DRPs,which were mainly related to therapeutic efficacy(51.22%)and safety(46.34%),and the reasons for this were that patients'incorrect medication usage method,inappropriate usage and dosage,and unscheduled safety monitoring,etc.The pharmacist interventions were 75(91.46%)at the drug level,38(46.34%)at the physician level,and 43(52.44%)at the patient level;after the pharmacist interventions,the acceptance rate was in the range of 97.56%,and 74.39%of the DRPs were resolved.Conclusion PCNE classification system helps clinical pharmacists to enhance their ability to find and deal with DRPs,reduce the risk of clinical adverse events and promote reasonable and safe drug use.Meanwhile,it is conducive to the standardization of pharmaceutical care records for patients with respiratory diseases and provides reference for pharmaceutical service models for patients in the department of respiratory.

5.
Yonsei Medical Journal ; : 241-245, 2024.
Artículo en Inglés | WPRIM | ID: wpr-1045602

RESUMEN

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS, OMIM: #142680) is a rare autoinflammatory disease (AID) with recurrent febrile episodes. To our knowledge, we report herein the first case of a patient with TRAPS in South Korea whose symptoms included fever, arthralgia, abdominal pain, rash, myalgia, cough, and lymphadenopathy. A pathogenic de novo mutation, c.175T>C (p.Cys59Arg), in the tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) gene, was confirmed by gene sequencing. The patient has been with tocilizumab (an interleukin-6 inhibitor); tocilizumab administration every other week has completely alleviated the patient’s symptoms. Our report further expands the clinical spectrum of patients with TRAPS and reaffirms the use of tocilizumab as a viable alternative treatment option for those patients who are unsatisfactorily responsive to other commonly used biologics, such as canakinumab, anakinra, infliximab, and etanercept. Furthermore, our report may aid in increasing awareness about the existence of mutation-confirmed TRAPS in South Korea in addition to emphasizing the importance of actively pursuing genetic testing to correctly diagnose rare AID.

6.
Yonsei Medical Journal ; : 78-88, 2024.
Artículo en Inglés | WPRIM | ID: wpr-1045612

RESUMEN

Purpose@#Encephalitis is a heterogeneous syndrome that occurs in childhood and is not rare. However, epidemiological studies of encephalitis based on the International Encephalitis Consortium (ICS) and expert recommendations are lacking. We investigated the aetiology and prognosis of encephalitis in Korean children. @*Materials and Methods@#This retrospective study included children aged <19 years hospitalised for encephalitis at Severance Children’s Hospital between 2005 and 2020. The 2013 ICS criteria were used to diagnose encephalitis, and causality was classified according to the site from which the specimen was obtained. Neurological sequelae were categorised using the modified Rankin Scale (mRS) score. @*Results@#In total, 551 children were included, with 7% classified as possible, 77% as probable, and 15% as proven cases. A cause was identified in 42% of the cases (n=222), with viruses being the most common (42%), followed by bacteria (38%) and autoimmune encephalitis (12%). In cases of proven/probable encephalitis (n=65), bacteria accounted for 52%, followed by viruses (25%) and autoimmune encephalitis (22%). In cases with a single pathogen, the anti-N-methyl-D-aspartate receptor autoantibody (n=14) was the most common, followed by Group B streptococcus (n=13), herpes simplex virus (n=11), enterovirus (n=4), and others. Approximately 37% of patients had severe sequelae (mRS score ≥3) at discharge, which decreased to 31% 6 months after discharge. @*Conclusion@#This large-scale study showed that autoimmune and infectious causes accounted for a significant proportion of encephalitis in Korean children. Further studies are needed to determine whether early targeted treatment following early diagnosis leads to a favourable prognosis in these populations.

7.
Artículo en Inglés | WPRIM | ID: wpr-915522

RESUMEN

Background@#We aimed to examine the delay in antiviral initiation in rapid antigen test (RAT) false-negative children with influenza virus infection and to explore the clinical outcomes. We additionally conducted a medical cost-benefit analysis. @*Methods@#This single-center, retrospective study included children (aged < 10 years) with influenza-like illness (ILI), hospitalized after presenting to the emergency department during three influenza seasons (2016–2019). RAT-false-negativity was defined as RAT-negative and polymerase chain reaction-positive cases. The turnaround time to antiviral treatment (TAT) was from the time when RAT was prescribed to the time when the antiviral was administered. The medical cost analysis by scenarios was also performed. @*Results@#A total of 1,430 patients were included, 7.5% were RAT-positive (n = 107) and 2.4% were RAT-false-negative (n = 20). The median TAT of RAT-false-negative patients was 52.8 hours, significantly longer than that of 4 hours in RAT-positive patients (19.2–100.1, P< 0.001). In the multivariable analysis, TAT of ≥ 24 hours was associated with a risk of severe influenza infection and the need for mechanical ventilation (odds ratio [OR], 6.8, P = 0.009 and OR, 16.2, P = 0.033, respectively). The medical cost varied from $11.7–187.3/ILI patient. @*Conclusion@#Antiviral initiation was delayed in RAT-false-negative patients. Our findings support the guideline that children with influenza, suspected of having severe or progressive infection, should be treated immediately.

8.
Artículo en Inglés | WPRIM | ID: wpr-938147

RESUMEN

Sarcoidosis is a systemic granulomatous disorder of unknown etiology characterized by granuloma formation. Due to the limited incidence of sarcoidosis in pediatric patients, little is known about the clinical course of this disease. A combination of clinical, radiologic, and pathologic examination is necessary to exclude other differential diagnoses (i.e., infection and granulomatous inflammatory disorder) and establish a diagnosis of sarcoidosis. Here, we report a case of histologically confirmed sarcoidosis initially misdiagnosed as hepatosplenic abscesses in an 11-year-old male. Treatment with corticosteroids improved his symptoms and resolved his skin and hepatosplenic lesions. A three-year follow-up was uneventful. This study emphasizes the importance of considering sarcoidosis in children presenting with findings of multi-organ involvement in the presence of histologic evidence of granuloma.

9.
Artículo en Coreano | WPRIM | ID: wpr-903072

RESUMEN

Neonatal lupus (NL) is a passively acquired autoimmune disease that occurs in infants born from asymptomatic mothers having anti-SSA or anti-SSB antibody. Infants with NL may show symptoms of systemic lupus erythematosus, including skin rash, congenital heart block, hepatic dysfunction, and hematological abnormalities. Mothers of the infants are asymptomatic or diagnosed with autoimmune diseases. When infants born to asymptomatic mothers who have never been diagnosed with the diseases show symptoms of NL, they may be mistaken for having infections. We report an NL case of a 47-day-old girl who presented to the emergency department with fever and skin rash.

10.
Artículo en Inglés | WPRIM | ID: wpr-903136

RESUMEN

Purpose@#This study aimed to evaluate the diagnostic value of the QuantiFERON-TB Gold InTube (QFT-GIT) in children with confirmed tuberculosis (TB). @*Methods@#We retrospectively reviewed the medical records of children aged ≤18 years who underwent both QFT-GIT and Mycobacterium tuberculosis culture between 2006 and 2017.Confirmed TB was defined as the presence of at least one positive specimen for M. tuberculosis on culture or a nucleic acid amplification test. @*Results@#Of the 582 patients included in the analysis, 48 were confirmed to have TB. The sensitivity and specificity of QFT-GIT for the diagnosis of confirmed TB were 85.4% and 95.5%, respectively. Among children with confirmed TB, the proportion in the immunocompromised state was higher in the QFT-GIT negative group than in the QFT-GIT positive group (50.0% vs. 5.7%, P=0.010). The median age at sampling was lower in the QFTGIT indeterminate group than in the QFT-GIT positive group (7 years vs. 17 years, P=0.008), and the proportion of immunosuppression was higher in the QFT-GIT indeterminate group than in the QFT-GIT positive group (42.9% vs. 5.7%, P=0.017). The interferon gamma response to mitogen control was significantly higher in the 10–18 years group than in the 0–9 years group (P<0.001), and was significantly higher in the immunocompetent group than in the immunocompromised group (P=0.001). @*Conclusion@#The QFT-GIT results should be interpreted carefully in immunocompromised or younger children suspected of having TB.

11.
Artículo en Inglés | WPRIM | ID: wpr-903139

RESUMEN

Tinea faciei is a rare dermatophyte infection of the face that most often appears as a facial rash, followed by patches of small and raised bumps. Since it is uncommon in children and has similar rash patterns with various skin diseases, it is likely to be misdiagnosed as herpes simplex infection, contact dermatitis, disc-shaped lupus erythematosus, acne, and atopic dermatitis. In this case, siblings aged 3 and 4 were hospitalized due to skin rashes that occurred after traveling to Vietnam, and were administered antiviral drugs and systemic steroids under suspicion of herpes simplex infection with atopic dermatitis. Despite administration of these drugs, skin lesions did not show improvement. Serum beta-Dglucan assays were elevated in both patients, and after approximately 2 weeks, Trichophyton interdigitale was cultured in the older sister's skin fungal culture test. Both patients recovered after local and systemic antifungal therapy, without relapse or side effects. Skin lesions on the face, which do not respond to the existing treatment in children, should be checked for the possibility of tinea faciei through repeated fungal tests, and the beta-D-glucan assay can be a useful tool in diagnosing tinea faciei.

12.
Artículo en Coreano | WPRIM | ID: wpr-895368

RESUMEN

Neonatal lupus (NL) is a passively acquired autoimmune disease that occurs in infants born from asymptomatic mothers having anti-SSA or anti-SSB antibody. Infants with NL may show symptoms of systemic lupus erythematosus, including skin rash, congenital heart block, hepatic dysfunction, and hematological abnormalities. Mothers of the infants are asymptomatic or diagnosed with autoimmune diseases. When infants born to asymptomatic mothers who have never been diagnosed with the diseases show symptoms of NL, they may be mistaken for having infections. We report an NL case of a 47-day-old girl who presented to the emergency department with fever and skin rash.

13.
Artículo en Inglés | WPRIM | ID: wpr-895432

RESUMEN

Purpose@#This study aimed to evaluate the diagnostic value of the QuantiFERON-TB Gold InTube (QFT-GIT) in children with confirmed tuberculosis (TB). @*Methods@#We retrospectively reviewed the medical records of children aged ≤18 years who underwent both QFT-GIT and Mycobacterium tuberculosis culture between 2006 and 2017.Confirmed TB was defined as the presence of at least one positive specimen for M. tuberculosis on culture or a nucleic acid amplification test. @*Results@#Of the 582 patients included in the analysis, 48 were confirmed to have TB. The sensitivity and specificity of QFT-GIT for the diagnosis of confirmed TB were 85.4% and 95.5%, respectively. Among children with confirmed TB, the proportion in the immunocompromised state was higher in the QFT-GIT negative group than in the QFT-GIT positive group (50.0% vs. 5.7%, P=0.010). The median age at sampling was lower in the QFTGIT indeterminate group than in the QFT-GIT positive group (7 years vs. 17 years, P=0.008), and the proportion of immunosuppression was higher in the QFT-GIT indeterminate group than in the QFT-GIT positive group (42.9% vs. 5.7%, P=0.017). The interferon gamma response to mitogen control was significantly higher in the 10–18 years group than in the 0–9 years group (P<0.001), and was significantly higher in the immunocompetent group than in the immunocompromised group (P=0.001). @*Conclusion@#The QFT-GIT results should be interpreted carefully in immunocompromised or younger children suspected of having TB.

14.
Artículo en Inglés | WPRIM | ID: wpr-895435

RESUMEN

Tinea faciei is a rare dermatophyte infection of the face that most often appears as a facial rash, followed by patches of small and raised bumps. Since it is uncommon in children and has similar rash patterns with various skin diseases, it is likely to be misdiagnosed as herpes simplex infection, contact dermatitis, disc-shaped lupus erythematosus, acne, and atopic dermatitis. In this case, siblings aged 3 and 4 were hospitalized due to skin rashes that occurred after traveling to Vietnam, and were administered antiviral drugs and systemic steroids under suspicion of herpes simplex infection with atopic dermatitis. Despite administration of these drugs, skin lesions did not show improvement. Serum beta-Dglucan assays were elevated in both patients, and after approximately 2 weeks, Trichophyton interdigitale was cultured in the older sister's skin fungal culture test. Both patients recovered after local and systemic antifungal therapy, without relapse or side effects. Skin lesions on the face, which do not respond to the existing treatment in children, should be checked for the possibility of tinea faciei through repeated fungal tests, and the beta-D-glucan assay can be a useful tool in diagnosing tinea faciei.

15.
Yonsei Medical Journal ; : 542-546, 2020.
Artículo | WPRIM | ID: wpr-833355

RESUMEN

Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in PIK3CD, which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein, we investigated clinical manifestations of APDS1 and collected data on the efficacy and safety profile of sirolimus, a mammalian target of rapamycin inhibitor and pathway-specific targeted medicine. The same heterozygous PIK3CD mutation was detected in all three patients (E1021K). After genetic diagnosis, all patients received sirolimus and experienced an excellent response, including amelioration of lymphoproliferation and improvement of nodular mucosal lymphoid hyperplasia in the gastrointestinal tract. The median trough level of sirolimus was 5.5 ng/mL (range, 2.8–7.5) at a dose of 2.6–3.6 mg/m2. Two patients who needed highdose, short-interval, immunoglobulin-replacement treatment (IGRT) had a reduced requirement for IGRT after initiating sirolimus, and the dosing interval was extended from 2 and 3 weeks to 4 weeks. The IgG trough level after sirolimus treatment (median, 594 mg/dL; range, 332–799 mg/dL) was significantly higher than that before sirolimus treatment (median, 290 mg/dL; range, 163–346 mg/dL) (p<0.001). One episode of elevated serum creatinine with a surge of sirolimus (Patient 2) and episodes of neutropenia and oral stomatitis (Patient 1) were observed. We diagnosed the first three patients with APDS1 in Korea. Low-dose sirolimus may alleviate clinical manifestations thereof, including hypogammaglobulinemia.

16.
Artículo | WPRIM | ID: wpr-837079

RESUMEN

Purpose@#This study aimed to investigate the clinical features of recurrent urinary tract infection (UTI) in children with vesicoureteral reflux (VUR) and to compare the causative uropathogen and antibiotic susceptibility between the first and recurrent UTI episodes. @*Methods@#We retrospectively reviewed the medical records of children with VUR who had recurrent UTI. Group 1 included patients in whom the same pathogen caused the first and recurrent UTI episodes. Group 2 included patients in whom different pathogens caused the first and recurrent UTI episodes. @*Results@#During a 13-year study period (2005–2018), 77 children with VUR experienced at least one episode of UTI. Among these, 47 patients (61.0%) had recurrent UTI. Of the children with recurrent UTI, 19 (40.4%) were in group 1 and 28 (59.6%) were in group 2. Escherichia coli was the most commonly isolated uropathogen (n=37; 39.4%) in both episodes of recurrent UTIs, followed by Klebsiella pneumoniae (n=18; 19.1%), Enterococcus faecalis (n=14; 14.9%), and Enterobacter aerogenes (n=7; 7.4%). Although the difference was not significant, the rate of resistance to the antibiotics ceftazidime, piperacillin/tazobactam, and trimethoprim-sulfamethoxazole increased in patients with the second episode of E. coli recurrence in group 1, and that to cefotaxime, ceftazidime, piperacillin/tazobactam, and meropenem increased in children with the second episode of E. aerogenes recurrence in group 1. @*Conclusions@#When selecting empirical antibiotics for recurrent UTI in children with VUR, it is important to consider that the pathogen and antimicrobial susceptibility of the previous UTI are not always the same in recurrent UTIs.

17.
Artículo | WPRIM | ID: wpr-837081

RESUMEN

Coronavirus disease 2019 (COVID-19), which started in Wuhan, China, in December 2019 and declared a worldwide pandemic on March 11, 2020, is a novel infectious disease that causes respiratory illness and death. Pediatric COVID-19 accounts for a small percentage of patients and is often milder than that in adults; however, it can progress to severe disease in some cases. Even neonates can suffer from COVID-19, and children may spread the disease in the community. This review summarizes what is currently known about COVID-19 in children and adolescents.

18.
Artículo en Inglés | WPRIM | ID: wpr-903128

RESUMEN

Purpose@#We evaluated the incidence and characteristics of Clostridioides difficile infection (CDI) in Korean children. @*Methods@#Medical records of patients aged 2–18 years and diagnosed with CDI at a tertiary hospital between 2009 and 2018 were analyzed. The patients were classified into three CDI groups: community-acquired (CA), community onset-health care facility-associated (COHCFA), and healthcare facility onset (HO). @*Results@#The incidence of CDI increased from 1.00 to 10.01 cases per 10,000 admissions from 2009 to 2018 (P<0.001). As compared to the CA group, the HO group had a higher frequency of operation and malignancy as predisposing factors (40.4% vs. 0.0%, P=0.001; and 27.7% vs. 0.0%, P=0.027, respectively), frequency and number of previous antibiotic use (97.9% vs. 31.3%, P<0.001; and 2 vs. 0, P<0.001, respectively), and median postdiagnosis hospital stay (13 vs. 5 days, P=0.008). The CO-HCFA group had a lower median age and higher frequency of malignancy than the CA group (5 vs. 13 years, P=0.012; and 30.8% vs.0.0%, P=0.030, respectively). As compared to the HO group, the CA group had a higher frequency of abdominal pain and hematochezia (56.3% vs. 10.6%, P=0.001; and 50.0% vs. 10.6%, P=0.002, respectively), inflammatory bowel disease (68.8% vs. 2.1%, P=0.001), and intravenous metronidazole treatment (37.5% vs. 2.1%,P=0.001). @*Conclusions@#With the increasing incidence of pediatric CDI, awareness regarding its epidemiology and clinical characteristics is important to manage nosocomial infections.

19.
Artículo en Inglés | WPRIM | ID: wpr-895424

RESUMEN

Purpose@#We evaluated the incidence and characteristics of Clostridioides difficile infection (CDI) in Korean children. @*Methods@#Medical records of patients aged 2–18 years and diagnosed with CDI at a tertiary hospital between 2009 and 2018 were analyzed. The patients were classified into three CDI groups: community-acquired (CA), community onset-health care facility-associated (COHCFA), and healthcare facility onset (HO). @*Results@#The incidence of CDI increased from 1.00 to 10.01 cases per 10,000 admissions from 2009 to 2018 (P<0.001). As compared to the CA group, the HO group had a higher frequency of operation and malignancy as predisposing factors (40.4% vs. 0.0%, P=0.001; and 27.7% vs. 0.0%, P=0.027, respectively), frequency and number of previous antibiotic use (97.9% vs. 31.3%, P<0.001; and 2 vs. 0, P<0.001, respectively), and median postdiagnosis hospital stay (13 vs. 5 days, P=0.008). The CO-HCFA group had a lower median age and higher frequency of malignancy than the CA group (5 vs. 13 years, P=0.012; and 30.8% vs.0.0%, P=0.030, respectively). As compared to the HO group, the CA group had a higher frequency of abdominal pain and hematochezia (56.3% vs. 10.6%, P=0.001; and 50.0% vs. 10.6%, P=0.002, respectively), inflammatory bowel disease (68.8% vs. 2.1%, P=0.001), and intravenous metronidazole treatment (37.5% vs. 2.1%,P=0.001). @*Conclusions@#With the increasing incidence of pediatric CDI, awareness regarding its epidemiology and clinical characteristics is important to manage nosocomial infections.

20.
Artículo en Inglés | WPRIM | ID: wpr-785340

RESUMEN

PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of flow cytometry (FCM) as a quick tool for immunophenotyping and functional assays in patients suspected to have PIDs at a single tertiary care institute.METHODS: Between January 2001 and June 2018, patients suspected of having PIDs were subjected to FCM tests, including lymphocyte subset analysis, detection of surface- or intracellular-target proteins, and functional analysis of immune cells, at Samsung Medical Center, Seoul, Korea. The genetic diagnosis was performed using Sanger or diagnostic exome sequencing.RESULTS: Of 60 patients diagnosed with definite or probable PID according to the European Society of Immune Deficiencies criteria, 24 patients were provided with useful information about immunological dysfunction after initial FCM testing. In 10 patients, the PID diagnosis was based on abnormal findings in FCM testing without genetic tests. The FCM findings provided strong evidence for the diagnosis of severe combined immunodeficiency (n = 6), X-linked chronic granulomatous diseases (CGD) (n = 6), leukocyte adhesion deficiency type 1 (n = 3), X-linked agammaglobulinemia (n = 11), autoimmune lymphoproliferative syndrome-FASLG (n = 1), and familial hemophagocytic lymphohistiocytosis type 2 (n = 1), and probable evidence for autosomal recessive-CGD (n = 2), autosomal dominant-hyper-immunoglobulin E (IgE)-syndrome (n = 1), and STAT1 gain-of-function mutation (n = 1). In PIDs derived from PIK3CD (n = 2), LRBA (n = 2), and CTLA4 mutations (n = 3), the FCM test provided useful evidence of immune abnormalities and a tool for treatment monitoring.CONCLUSIONS: The initial application of FCM, particularly with known protein targets on immune cells, would facilitate the timely diagnosis of PIDs and thus would support clinical decisions and improve the clinical outcome.


Asunto(s)
Humanos , Agammaglobulinemia , Diagnóstico , Exoma , Citometría de Flujo , Pruebas Genéticas , Enfermedad Granulomatosa Crónica , Inmunofenotipificación , Corea (Geográfico) , Leucocitos , Subgrupos Linfocitarios , Linfohistiocitosis Hemofagocítica , Fenotipo , Estudios Retrospectivos , Seúl , Inmunodeficiencia Combinada Grave , Atención Terciaria de Salud
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