RESUMEN
PURPOSE: Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate diagnosis and management of IPEX. We sought to present clinical, genetic, and immunological assessments of 12 IPEX patients with long-term follow-up to facilitate the diagnosis and management of the disease. METHODS: Clinical findings and treatment options of the patients were collected over time. Lymphocyte subpopulations, protein expressions, regulatory T (Treg) and circulating T follicular helper (cTFH) cells, and T-cell proliferation were analyzed. RESULTS: Predominant presentations included autoimmunity (91.6%), failure to thrive (66.7%), and eczema (58.3%). There were four classical and eight atypical IPEX individuals. Allergic manifestations were more common in atypical patients. Notably, chronic diarrhea demonstrated heightened severity compared to other manifestations. Four patients (33.3%) demonstrated eosinophilia, and nine (75%) showed high serum IgE levels. Most patients exhibited normal percentages of Treg cells with reduced CD25, FOXP3, and CTLA-4 expressions, corrected after hematopoietic stem cell transplantation (HSCT). Compared to healthy controls, the TH2-like skewing accompanied by reduced TH17-like responses was observed in cTFH and Treg cells of patients. Overall, nine patients (75%) received immunosuppressants (ISs), and six (50%) underwent HSCT, which was the only treatment revealing sustained control. Sirolimus was used in six patients and showed better control than other ISs. CONCLUSIONS: The first cohort from Turkey with long-term follow-up results, comparing typical and atypical cases, provides insights into the outcomes of different therapeutic modalities and T- cell subtype changes in IPEX syndrome.
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Factores de Transcripción Forkhead , Enfermedades Genéticas Ligadas al Cromosoma X , Linfocitos T Reguladores , Humanos , Turquía , Masculino , Preescolar , Factores de Transcripción Forkhead/genética , Factores de Transcripción Forkhead/metabolismo , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/inmunología , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Linfocitos T Reguladores/inmunología , Lactante , Femenino , Niño , Diabetes Mellitus Tipo 1/inmunología , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/congénito , Enfermedades del Sistema Inmune/diagnóstico , Enfermedades del Sistema Inmune/genética , Enfermedades del Sistema Inmune/terapia , Enfermedades del Sistema Inmune/congénito , Autoinmunidad , Adolescente , DiarreaRESUMEN
INTRODUCTION: Data from studies conducted to date have evaluated clinical atherosclerotic conditions in adult patients with atopic dermatitis (AD). Subclinical atherosclerotic changes that are a precursor of atherosclerotic conditions may begin in childhood. The aim of this study was to investigate the presence of subclinical atherosclerosis in pediatric patients with AD and to determine the associated risk factors. METHODS: A total of 59 patients who were referred to our department over a 6-month period and diagnosed with AD, and 53 healthy controls with a similar age and gender were included in the study. Subclinical atherosclerosis markers (carotid intima media thickness [CIMT], distensibility, stiffness, and strain) were measured using conventional echocardiography. The patients' age, SCORAD index, and duration of symptoms were recorded. Serum total immunoglobulin E, C-reactive protein (CRP), blood lipid profile, and complete blood count markers were measured. RESULTS: The median age of the patients was 61 (10-103) months, and 59.3% of them were male. The patients with AD had a higher CIMT (1.60 ± 0.35 vs. 1.30 ± 0.50 mm) and a lower distensibility (0.006 ± 0.009 vs. 0.01 ± 0.008) and strain (0.10 ± 0.14 vs. 0.19 ± 0.14) than the healthy controls (p < 0.01 for all), but there was no significant difference with regard to stiffness (10.16 ± 21.75 vs. 8.99 ± 12.66). Significant correlations between CIMT and disease duration, age, and the SCORAD index were found (p < 0.01, p < 0.01, and p < 0.05, respectively). No correlation between the subclinical atherosclerosis markers and the other laboratory results was found (p > 0.05 for all). CONCLUSION: This study demonstrates that pediatric patients with AD may express subclinical atherosclerosis markers. The evaluation of subclinical atherosclerosis in these patients revealed that CIMT may be the most important marker, as it displayed positive correlations with symptom duration, age, and disease severity.
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Aterosclerosis , Dermatitis Atópica , Adulto , Humanos , Masculino , Niño , Preescolar , Femenino , Grosor Intima-Media Carotídeo , Dermatitis Atópica/complicaciones , Dermatitis Atópica/diagnóstico , Aterosclerosis/diagnóstico , Aterosclerosis/complicaciones , Factores de Riesgo , Proteína C-ReactivaAsunto(s)
Alérgenos , Pyroglyphidae , Animales , Niño , Humanos , Dermatophagoides pteronyssinus , Inmunoterapia , Polvo , Antígenos Dermatofagoides , Desensibilización InmunológicaRESUMEN
The aim of the study is to investigate how renal involvement is correlated with frequency of amyloidosis, risk factors, and demographic and clinical characteristics in pediatric patients with Familial Mediterranean fever (FMF). Demographic and clinical characteristics and laboratory data of the pediatric patients diagnosed with FMF between 1990 and 2018 were recorded from their files. The diagnosis of patients with amyloidosis (AA) was proven by renal biopsy, and as for patients with non-amyloidosis renal involvement (RI wo AA), amyloidosis could not be detected but they were followed up with the diagnosis of proteinuria and/or hematuria. A total of 1929 FMF pediatric patients were included in the study. About 962 (49.9%) participants were male. There were 134 (6.9%) patients with RI wo AA and 23 (1.2%) patients with AA diagnosed by biopsy. The most common M694V heterozygous/homozygous(het/hom) (31%) mutation was observed. Delay in diagnosis and presence of colchicine resistance were more in patients with RI wo AA and AA (p < 0.05). M694V het/hom mutation was high in both RI wo AA and AA, while the presence of compound heterozygous with M694V mutation was high in RI wo AA (p < 0.01, p = 0.02, p = 0.048, respectively). There was a positive correlation between M694V mutation and monoarthritis/polyarthritis, between compound heterozygous with M694V mutations and presence of chest pain, and between V726A mutation and constipation. Also a negative correlation was found between E148Q and chest pain and between R202Q mutation and monoarthritis/polyarthritis. While M694V mutation increased the risk 2.6 times for AA and 1.7 times for RI wo AA, colchicine resistance increased the risk 33 times for AA and 25 times for RI wo AA. Concluson: It was concluded in the present study that M694V mutation and colchicine resistance were two important risk factors for RI wo AA (6.9%) and amyloidosis (1.2%) in FMF patients. It should be kept in mind that compound heterozygous with M694V mutations may be associated with chest pain and R202Q mutation may be negatively correlated with arthritis, unlike M694V. The genetic results and clinical findings of the patients should be evaluated together and followed up closely. What is Known: ⢠M694V mutation and colchicine resistance were two important risk factors for RI wo AA and amyloidosis in FMF patients. What is New: ⢠Compound heterozygous with M694V mutations were associated with chest pain and may be more serious than thought. ⢠Another point is that while R202Q mutations were negatively correlated with arthritis, M694V mutations were positively correlated.
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Amiloidosis , Artritis , Fiebre Mediterránea Familiar , Masculino , Humanos , Femenino , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/diagnóstico , Fiebre Mediterránea Familiar/genética , Pirina/genética , Amiloidosis/complicaciones , Amiloidosis/diagnóstico , Heterocigoto , Mutación , Colchicina/uso terapéutico , Fenotipo , GenotipoRESUMEN
OBJECTIVES: The participation of families in childhood vaccination decreases slightly every year around the world. Parents arrive at a decision that vaccines are not safe for their children due to many sources of misinformation. The aim of this study was to investigate the relationship between vaccine hesitancy, vaccine knowledge status and socio-demographic characteristics of the children's parents. METHODS: In this cross-sectional study, 361 parents of children aged 5 years and under, who were admitted to our paediatric outpatient clinic, were included. The parents received scores between 0-20 points according to the correct answers they gave to the questions asked. RESULTS: Although all parents had a positive attitude towards vaccination, some myths, e.g. that vaccination could weaken the child's immune system because it contains heavy metals which could cause infertility and that complementary and alternative medicine could replace vaccination, are thought to be real by 1.7% to 34.6% of the parents. CONCLUSIONS: Since the presence of misinformation may lead to vaccine hesitancy and incomplete vaccination, healthcare personnel have important duties and responsibilities for this group.