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1.
Allergy ; 2019 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-31596517

RESUMO

BACKGROUND: Dedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and function in a Dock8-deficient mouse model. In this study, we sought to test whether DOCK8 is required for the function and maintenance of ILC subsets in humans. METHODS: Peripheral blood ILC1-3 subsets of 16 DOCK8-deficient patients recruited at the pretransplant stage, and seven patients with autosomal dominant (AD) HIES due to STAT3 mutations, were compared with those of healthy controls or post-transplant DOCK8-deficient patients (n = 12) by flow cytometry and real-time qPCR. Sorted total ILCs from DOCK8- or STAT3-mutant patients and healthy controls were assayed for survival, apoptosis, proliferation, and activation by IL-7, IL-23, and IL-12 by cell culture, flow cytometry, and phospho-flow assays. RESULTS: DOCK8-deficient but not STAT3-mutant patients exhibited a profound depletion of ILC3s, and to a lesser extent ILC2s, in their peripheral blood. DOCK8-deficient ILC1-3 subsets had defective proliferation, expressed lower levels of IL-7R, responded less to IL-7, IL-12, or IL-23 cytokines, and were more prone to apoptosis compared with those of healthy controls. CONCLUSION: DOCK8 regulates human ILC3 expansion and survival, and more globally ILC cytokine signaling and proliferation. DOCK8 deficiency leads to loss of ILC3 from peripheral blood. ILC3 deficiency may contribute to the susceptibility of DOCK8-deficient patients to infections.

2.
Pediatr Transplant ; 23(7): e13545, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31297914

RESUMO

DOCK8 deficiency is a rare inherited combined immunodeficiency, caused by mutations in the DOCK8 gene. We describe a case with DOCK8 deficiency associated with severe CLD in whom orthotopic LT was performed successfully after allogeneic HSCT. A 5 year-old girl with DOCK8 deficiency presented with mild direct hyperbilirubinemia and abnormal GGT level and without a previous history of jaundice. She had severe growth retardation, hepatosplenomegaly and generalized eczema. Progressive worsening of CLD was observed within 4 months. Investigations for etiology of liver disease were negative. Liver biopsy showed bridging necrosis, cholestasis and, cirrhosis. Recurrent immune hemolytic crisis and several viral infections developed in follow-up. She underwent whole cadaveric LT for end-stage liver disease (ESLD) 1 year after allogenic HSCT from a full matched related donor. The postoperative course was uneventful. The patient is alive with normal liver function and moderate skin graft versus host disease for 36 months after LT. In conclusion DOCK8 deficiency can be associated with severe CLD. Successful LT following HSCT is possible in patients with ESLD in DOCK8 deficiency. The timing of LT is challenging in patients requiring both HSCT and LT since conditioning regimens for HSCT can be highly hepatotoxic and the patients with suboptimal liver function can become decompensated during HSCT.

3.
J Allergy Clin Immunol Pract ; 7(8): 2790-2800.e15, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31238161

RESUMO

BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. The long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established. OBJECTIVE: To determine the clinical and immunologic features of LRBA deficiency and long-term efficacy of abatacept treatment in controlling the different disease manifestations. METHODS: Twenty-two LRBA-deficient patients were recruited from different immunology centers and followed prospectively. Eighteen patients on abatacept were evaluated every 3 months for long-term clinical and immunologic responses. LRBA expression, lymphocyte subpopulations, and circulating T follicular helper cells were determined by flow cytometry. RESULTS: The mean age of the patients was 13.4 ± 7.9 years, and the follow-up period was 3.4 ± 2.3 years. Recurrent infections (n = 19 [86.4%]), immune dysregulation (n = 18 [81.8%]), and lymphoproliferation (n = 16 [72.7%]) were common clinical features. The long-term benefits of abatacept in 16 patients were demonstrated by complete control of lymphoproliferation and chronic diarrhea followed by immune dysregulation, most notably autoimmune cytopenias. Weekly or every other week administration of abatacept gave better disease control compared with every 4 weeks. There were no serious side effects related to the abatacept therapy. Circulating T follicular helper cell frequencies were found to be a reliable biomarker of disease activity, which decreased on abatacept therapy in most subjects. However, high circulating T follicular helper cell frequencies persisted in 2 patients who had a more severe disease phenotype that was relatively resistant to abatacept therapy. CONCLUSIONS: Long-term abatacept therapy is effective in most patients with LRBA deficiency.

6.
J Pediatr Hematol Oncol ; 40(8): e547-e549, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29620677

RESUMO

Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility. This case report presents a 3-year-old male patient with A-T who developed hemophagocytic syndrome. To the best of our knowledge, no such case has been previously reported.


Assuntos
Ataxia Telangiectasia/diagnóstico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Ataxia Telangiectasia/patologia , Pré-Escolar , Humanos , Linfo-Histiocitose Hemofagocítica/patologia , Masculino
7.
Blood ; 131(21): 2335-2344, 2018 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-29653965

RESUMO

Integrity of the T-cell receptor/CD3 complex is crucial for positive and negative selection of T cells in the thymus and for effector and regulatory functions of peripheral T lymphocytes. In humans, CD3D, CD3E, and CD3Z gene defects are a cause of severe immune deficiency and present early in life with increased susceptibility to infections. By contrast, CD3G mutations lead to milder phenotypes, mainly characterized by autoimmunity. However, the role of CD3γ in establishing and maintaining immune tolerance has not been elucidated. In this manuscript, we aimed to investigate abnormalities of T-cell repertoire and function in patients with genetic defects in CD3G associated with autoimmunity. High throughput sequencing was used to study composition and diversity of the T-cell receptor ß (TRB) repertoire in regulatory T cells (Tregs), conventional CD4+ (Tconv), and CD8+ T cells from 6 patients with CD3G mutations and healthy controls. Treg function was assessed by studying its ability to suppress proliferation of Tconv cells. Treg cells of patients with CD3G defects had reduced diversity, increased clonality, and reduced suppressive function. The TRB repertoire of Tconv cells from patients with CD3G deficiency was enriched for hydrophobic amino acids at positions 6 and 7 of the CDR3, a biomarker of self-reactivity. These data demonstrate that the T-cell repertoire of patients with CD3G mutations is characterized by a molecular signature that may contribute to the increased rate of autoimmunity associated with this condition.


Assuntos
Complexo CD3/genética , Imunomodulação , Mutação , Subpopulações de Linfócitos T/imunologia , Subpopulações de Linfócitos T/metabolismo , Linfócitos T Reguladores/imunologia , Linfócitos T Reguladores/metabolismo , Biomarcadores , Complexo CD3/metabolismo , Expressão Gênica , Humanos , Imunofenotipagem , Ativação Linfocitária/imunologia , Complexos Multiproteicos/metabolismo , Ligação Proteica , Receptores de Antígenos de Linfócitos T/metabolismo
8.
J Allergy Clin Immunol ; 142(1): 246-257, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29155101

RESUMO

BACKGROUND: Pathological inflammatory syndromes of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory manifestations also exist in patients with STING-associated vasculopathy in infancy (SAVI). OBJECTIVE: We sought to test the hypothesis that the inflammation-associated manifestations observed in patients with AT and Artemis deficiency stem from increased type I IFN signature leading to neutrophil-mediated pathological damage. METHODS: Cytokine/protein signatures were determined by ELISA, cytometric bead array, or quantitative PCR. Stat1 phosphorylation levels were determined by flow cytometry. DNA species accumulating in the cytosol of patients' cells were quantified microscopically and flow cytometrically. Propensity of isolated polymorhonuclear granulocytes to form neutrophil extracellular traps (NETs) was determined using fluorescence microscopy and picogreen assay. Neutrophil reactive oxygen species levels and mitochondrial stress were assayed using fluorogenic probes, microscopy, and flow cytometry. RESULTS: Type I and III IFN signatures were elevated in plasma and peripheral blood cells of patients with AT, Artemis deficiency, and SAVI. Chronic IFN production stemmed from the accumulation of DNA in the cytoplasm of AT and Artemis-deficient cells. Neutrophils isolated from patients spontaneously produced NETs and displayed indicators of oxidative and mitochondrial stress, supportive of their NETotic tendencies. A similar phenomenon was also observed in neutrophils from healthy controls exposed to patient plasma samples or exogeneous IFN-α. CONCLUSIONS: Type I IFN-mediated neutrophil activation and NET formation may contribute to inflammatory manifestations observed in patients with AT, Artemis deficiency, and SAVI. Thus, neutrophils represent a promising target to manage inflammatory syndromes in diseases with active type I IFN signature.


Assuntos
Ataxia Telangiectasia/imunologia , Armadilhas Extracelulares/imunologia , Síndromes de Imunodeficiência/imunologia , Interferon Tipo I/imunologia , Ataxia Telangiectasia/patologia , Proteínas de Ligação a DNA , Endonucleases/deficiência , Endonucleases/imunologia , Humanos , Síndromes de Imunodeficiência/genética , Proteínas de Membrana/genética , Ativação de Neutrófilo , Neutrófilos/imunologia , Neutrófilos/patologia , Proteínas Nucleares/deficiência , Proteínas Nucleares/imunologia , Vasculite/genética , Vasculite/imunologia , Vasculite/patologia
9.
Turk J Haematol ; 34(4): 345-349, 2017 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-28404538

RESUMO

Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. The patient diagnoses included severe combined immunodeficiency (n=11), Chediak-Higashi syndrome (n=2), leukocyte adhesion deficiency (n=2), MHC class 2 deficiency (n=2), chronic granulomatous syndrome (n=2), hemophagocytic lymphohistiocytosis (n=1), Wiskott-Aldrich syndrome (n=1), and Omenn syndrome (n=1). Of the 22 patients, 7 received human leukocyte antigen-matched related hematopoietic stem cell transplantation, 12 received haploidentical hematopoietic stem cell transplantation, and 2 received matched unrelated hematopoietic stem cell transplantation. The results showed that 5 patients had graft failure. Fourteen patients survived, yielding an overall survival rate of 67%. Screening newborn infants for primary immunodeficiency diseases may result in timely administration of hematopoietic stem cell transplantation.


Assuntos
Transplante de Células-Tronco Hematopoéticas/métodos , Síndromes de Imunodeficiência/terapia , Síndrome de Chediak-Higashi/epidemiologia , Síndrome de Chediak-Higashi/terapia , Criança , Pré-Escolar , Feminino , Rejeição de Enxerto/epidemiologia , Doença Granulomatosa Crônica/epidemiologia , Doença Granulomatosa Crônica/terapia , Humanos , Síndromes de Imunodeficiência/epidemiologia , Lactente , Síndrome da Aderência Leucocítica Deficitária/epidemiologia , Síndrome da Aderência Leucocítica Deficitária/terapia , Linfo-Histiocitose Hemofagocítica/epidemiologia , Linfo-Histiocitose Hemofagocítica/terapia , Masculino , Imunodeficiência Combinada Severa/epidemiologia , Imunodeficiência Combinada Severa/terapia , Análise de Sobrevida , Turquia/epidemiologia , Síndrome de Wiskott-Aldrich/epidemiologia , Síndrome de Wiskott-Aldrich/terapia
10.
J Pediatr Ophthalmol Strabismus ; 53(4): 218-22, 2016 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-27182748

RESUMO

PURPOSE: To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. METHODS: Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. RESULTS: All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. CONCLUSIONS: The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222].


Assuntos
Anormalidades Múltiplas/diagnóstico , Síndrome de DiGeorge/diagnóstico , Anormalidades do Olho/diagnóstico , Adolescente , Criança , Pré-Escolar , Percepção de Profundidade/fisiologia , Pálpebras/anormalidades , Feminino , Humanos , Lactente , Masculino , Erros de Refração/diagnóstico , Doenças Retinianas/diagnóstico , Vasos Retinianos/anormalidades , Acuidade Visual/fisiologia
11.
Asian Pac J Allergy Immunol ; 34(2): 166-73, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27007839

RESUMO

BACKGROUND: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). OBJECTIVES: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. METHODS: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. RESULTS: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx105 ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx105 was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. CONCLUSIONS: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV≥8.6fl, MPV/PLTx105 ratio≥3.3 and PLT count ≤265,500/mm3, the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.


Assuntos
Plaquetas , Síndrome de DiGeorge/diagnóstico , Volume Plaquetário Médio , Contagem de Plaquetas , Adolescente , Adulto , Área Sob a Curva , Criança , Desenvolvimento Infantil , Pré-Escolar , Síndrome de DiGeorge/sangue , Síndrome de DiGeorge/genética , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Deficiência Intelectual/sangue , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Atividade Motora , Fenótipo , Valor Preditivo dos Testes , Curva ROC , Reprodutibilidade dos Testes , Estudos Retrospectivos , Adulto Jovem
12.
Ann Allergy Asthma Immunol ; 116(2): 151-155.e1, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26815708

RESUMO

BACKGROUND: The European Society of Immunodeficiency (ESID) developed 6 warning signs to promote the awareness of adult primary immunodeficiency disease (PID). OBJECTIVE: To screen adult patients for the presence of PID using these 6 warning signs to determine the effectiveness of this protocol. METHODS: Questions related to the ESID warning signs for adult PID were added to the standard outpatient clinic file system and asked of 3,510 patients who were admitted to our clinic for any reason. Patients with signs and/or suspicion of PID based on their medical history underwent immunologic investigation. RESULTS: In total, 24 patients were diagnosed as having a PID. The most common reason that patients with PID were admitted was frequent infection (n=18 [75%]), and the most common PID subgroup was common variable immunodeficiency (n=12 [50%]). Twenty patients with PID had at least one positive finding according to the ESID warning signs. Two patients with gastrointestinal concerns and 2 with dermatologic symptoms were also diagnosed as having a PID, although they did not have any of the ESID warning signs. CONCLUSION: The ESID warning signs do not specify the need for symptoms to diagnose a PIDs and do not include a comprehensive list of all signs and symptoms of PIDs. As a result, more than infection-centric questions are needed to identify adult patients with immunodeficiencies.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Adolescente , Adulto , Alergia e Imunologia , Europa (Continente) , Feminino , Gastroenteropatias/epidemiologia , Humanos , Imunoglobulinas/sangue , Síndromes de Imunodeficiência/classificação , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/imunologia , Contagem de Leucócitos , Masculino , Pessoa de Meia-Idade , Dermatopatias/epidemiologia , Testes Cutâneos , Sociedades Médicas , Adulto Jovem
13.
Pediatr Int ; 58(4): 279-83, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26291719

RESUMO

BACKGROUND: Smoking is the main preventable public health problem particularly for youth worldwide. The aim of the present study was to determine the prevalence of smoking habits among students at secondary and high schools, and to compare the findings with those of a study conducted 15 years ago in the same area. METHODS: In this cross-sectional study 6212 students (51.2% female; 48.8% male) were selected randomly from rural and urban areas in Samsun. All students completed a face-to-face questionnaire. RESULTS: The overall prevalence of smoking was 13.0% (male students, 18.1%; female students, 8.2%). The mean starting age of smoking was 14.1 ± 1.5 years. Prevalence of smoking was 15.7% in urban areas and 8.1% in rural areas. The most important factors for starting smoking were social group and families. Compared with a study conducted 15 years previously in the same area for male students, smoking prevalence was increased in rural, but decreased in urban areas. CONCLUSIONS: Smoking prevalence in students in Samsun was similar to that in a study conducted 15 years previously. It is important to use anti-smoking campaigns directly targeted at teenager and they should be fully informed of the harmful effects of smoking.


Assuntos
Previsões , Saúde Pública , População Rural , Fumar/epidemiologia , Estudantes/estatística & dados numéricos , Inquéritos e Questionários , População Urbana , Adolescente , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , Turquia/epidemiologia
14.
Clin Respir J ; 10(2): 223-30, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25196245

RESUMO

BACKGROUND AND AIMS: The appropriate treatment of pandemic H1N1 influenza which was first identified in April 2009 in Mexico is insufficient especially for immunocompromised patients. We aimed to evaluate the features and prognostic factors of the children with H1N1, especially immunocompromised ones, and whether intravenous immunoglobulin G (IVIG) replacement could aid for a better outcome. METHODS: Twenty-one hospitalized children with laboratory-confirmed H1N1 were evaluated retrospectively. Data were extracted from files and electronic medical records. RESULTS: The median age was 37 (1-216) months; 62% of them were under 5 years of age and 71.4% had one or more underlying disorders. Main symptoms were high fever, cough, fatigue and vomiting. Lower respiratory tract manifestations were seen in 66.6% of children. Mortality rate was 4.7%. The patient who died had the lowest lymphocyte (100/mm(3) ), thrombocyte (21 000/mm(3) ) and highest blood urea nitrogen (87 mg/dL) levels. Fifty-eight percent of evaluated patients had one of the primary immunodeficiency disorders. Surprisingly, none of the six patients with primary immunodeficiency who are on regular IVIG replacement needed intensive care unit and died. Although median durations of cough, fever and hospitalization were lower, they did not change statistically according to get IVIG replacement regularly (P = 0.47, 0.97, 0.09, respectively). CONCLUSION: Our study is important while it is the first one that shows the course of primary immunodeficient children with H1N1 infection who were on regular IVIG replacement. A trial of high-dose IVIG may be a useful adjunctive therapy in severe H1N1 influenza, particularly in the immunocompromised patients.


Assuntos
Imunoglobulinas Intravenosas/administração & dosagem , Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Influenza Humana/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Feminino , Hospitalização , Humanos , Hospedeiro Imunocomprometido , Lactente , Recém-Nascido , Influenza Humana/imunologia , Influenza Humana/virologia , Masculino , México , Estudos Retrospectivos , Resultado do Tratamento
15.
Int Forum Allergy Rhinol ; 4(12): 980-5, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25175821

RESUMO

BACKGROUND: Vitamin D (VitD) and its metabolites play important roles in the regulation of the respiratory and immune systems. The aim of this study was to examine serum 25(OH) vitamin D [25(OH)D] levels and VitD deficiency on the development of wheezing and clinical features. METHODS: This study was a prospective cross-sectional survey that included a total of 70 infants being followed in the Pediatric Immunology and Allergy Unit at Ondokuz Mayis University. Forty of these infants (patient group), ranging in age from 1 to 3 years, had been diagnosed as wheezy infants; 30 were age-and-gender matched healthy infants (control group). Prior to the study, blood samples were taken from both groups to determine their serum VitD, blood eosinophil, and serum immunoglobulin E (IgE) levels. RESULTS: The duration of breastfeeding was similar for both groups. The serum 25(OH)D levels of the patient group were significantly lower than those of the control group. Although there was a negative relationship between 25(OH)D level and IgE(log10) values for the wheezy infants with VitD deficiency, the control group had a negative relationship between VitD level and IgE(log10) . CONCLUSION: Serum 25(OH)D levels must be evaluated when following wheezy infants, and those with deficiency must be treated with VitD.


Assuntos
Sons Respiratórios/etiologia , Deficiência de Vitamina D/complicações , Vitamina D/sangue , Pré-Escolar , Estudos Transversais , Eosinófilos/imunologia , Feminino , Humanos , Imunoglobulina E/sangue , Lactente , Masculino , Estudos Prospectivos , Deficiência de Vitamina D/sangue
16.
Int Forum Allergy Rhinol ; 4(7): 555-8, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24668848

RESUMO

BACKGROUND: The objective of this work was to determine the characteristics of allergic reactions that may occur after a bee sting and alternative treatment methods in Turkish beekeepers. METHODS: A written questionnaire was administered to beekeepers from the Ordu, Samsun, Sinop, Amasya, and Çorum provinces located in the Central Black Sea Region of Turkey. RESULTS: The study included 301 beekeepers, 295 (98%) of whom were male. Their mean age was 48.2 ± 11.5 years. The mean beekeeping duration was 15.3 ± 10.5 years. A total of 270 participants (89.9%) had a history of bee stings in the previous 12 months. Systemic reactions, large local reactions, and local reactions were seen in 21 (6.9%), 193 (64.1%), and 12 (4.0%) beekeepers, respectively. The face was the most frequently stung body site, and swelling generally occurred in the eyelids. The size of the swellings decreased within 12 to 24 hours in 259 (86.1%) beekeepers. The size of the swellings was 1 × 2 cm in diameter in 157 (52.2%) beekeepers. Natural protection against bee stings had developed by 12 months in 140 (46.5%) beekeepers. In total, 61.5% of the beekeepers applied alternative treatments (eg, garlic, onion water, yogurt), whereas 14.0% (3/21) were admitted to a hospital with a systemic reaction. In total, 10.6% and 14.2% of beekeepers were aware of adrenaline auto-injector and venom immunotherapy, respectively. CONCLUSION: This study indicates insufficient knowledge and attitudes among Turkish beekeepers regarding bee sting reactions.


Assuntos
Dessensibilização Imunológica/métodos , Hipersensibilidade/terapia , Doenças Profissionais/terapia , Adulto , Alérgenos/imunologia , Animais , Venenos de Abelha/imunologia , Criação de Abelhas/estatística & dados numéricos , Abelhas , Terapias Complementares , Epinefrina/uso terapêutico , Feminino , Humanos , Hipersensibilidade/imunologia , Masculino , Pessoa de Meia-Idade , Doenças Profissionais/imunologia , Inquéritos e Questionários , Turquia
17.
J Pediatr Hematol Oncol ; 35(8): e335-7, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23389499

RESUMO

We report a RAG2-deficient patient with severe combined immunodeficiency and hemophagocytic bone marrow aplasia with plasma cells after a nonconditioned transplantation from a fully matched sibling. After engraftment, disseminated BCGosis appeared because of graft versus host disease prophylaxis. On the 55th day, eosinophilia, neutropenia, and thrombocytopenia developed. Aplasia, hemophagocytic histiocytes, and plasma cells were found on his bone marrow with very high level of serum immunoglobulin E. We could not discriminate exactly whether BCGosis or alloimmune response is the cause of hemophagocytic aplasia with plasma cells. Despite the second hematopoietic stem cell transplantation with a reduced intensity conditioning regime, his marrow aplasia did not recover and he died. This case suggests that BCGosis might be associated with hemophagocytic marrow aplasia with plasma cells in an alloimmune reaction.


Assuntos
Vacina BCG/efeitos adversos , Doenças da Medula Óssea/etiologia , Proteínas de Ligação a DNA/genética , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Linfo-Histiocitose Hemofagocítica/etiologia , Proteínas Nucleares/genética , Imunodeficiência Combinada Severa/cirurgia , Vacina BCG/imunologia , Doenças da Medula Óssea/patologia , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/patologia , Masculino , Plasmócitos/patologia , Imunodeficiência Combinada Severa/genética , Condicionamento Pré-Transplante , Transplante Homólogo/efeitos adversos
18.
Int J Pediatr Otorhinolaryngol ; 77(3): 341-5, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23277300

RESUMO

OBJECTIVE: A prospective study was carried out to determine the sensitivity and specificity of reflux symptoms and laryngeal findings to diagnose laryngopharyngeal reflux (LPR) and gastro-esophageal reflux (GER) in children with asthma by comparing the results of double probe pH monitorization and to determine the difference between controlled and uncontrolled asthma in terms of GER and LPR coexistence. METHODS: A total of 50 patients (23 girls, mean age 10.8±0.4 years) with mild to moderate persistent asthma were included in this study. The patients were divided in two groups according to the asthma control status as controlled (n=27) vs. uncontrolled asthma (n=23). All patients completed the reflux symptom questionnaire and then they underwent flexible fiberoptic laryngoscopy and 24h double probe (pharyngeal and esophageal) pH monitorization. Laryngopharyngeal and gastroesophageal reflux were defined according to the double probe pH meter results. RESULTS: The prevalences of LPR and GER were 70% and 46% in asthmatic patients, respectively. The reflux symptom score and LPR disease index were not useful to predict LPR or GER. There was no association between asthma control status and LPR and GER. Vocal nodule seems to be a valuable sign to evaluate LPR in asthmatic children. CONCLUSIONS: The reflux symptom score and LPR disease index do not seem reliable to diagnose LPR and GER in children with asthma. The frequency of LPR and GER are independent of asthma control, atopy and long acting beta agonist usage.


Assuntos
Asma/complicações , Asma/terapia , Refluxo Gastroesofágico/complicações , Refluxo Laringofaríngeo/complicações , Criança , Feminino , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/epidemiologia , Humanos , Concentração de Íons de Hidrogênio , Refluxo Laringofaríngeo/diagnóstico , Refluxo Laringofaríngeo/epidemiologia , Masculino , Prevalência , Estudos Prospectivos , Inquéritos e Questionários
19.
Asian Pac J Allergy Immunol ; 30(3): 243-5, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23156856

RESUMO

Sodium nitroprusside (SNP) is one of the most widely used parenteral antihypertensive agents in severe hypertension management. Toxic epidermal necrolysis (TEN) is a rare, mostly drug-induced, severe muco-cutoneous reaction with various complications and high mortality. A fifteen years old girl who is on hemodialysis for chronic renal insufficiency and was hospitalized for emergency management of hypertension, developed a diffuse maculopapular rash within minutes after SNP infusion. In 72 hours, approximately 40% of the body surface was involved with skin detachment indicating epidermal necrolysis and a skin biopsy confirmed the diagnosis of TEN. To the best of our knowledge there is no report of an association of SNP and TEN in the English literature and the clinical data exemplifying consequent IgE and non-IgE mediated hypersensitivity reactions are scanty. With this report we wanted to present a rare complication of SNP infusion indicating another rare occurrence of sequential IgE and non-IgE mediated hypersensitivity reactions.


Assuntos
Anti-Hipertensivos/efeitos adversos , Nitroprussiato/efeitos adversos , Síndrome de Stevens-Johnson/etiologia , Adolescente , Feminino , Humanos
20.
Pediatr Emerg Care ; 28(3): 259-64, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22344214

RESUMO

BACKGROUND: Foreign body aspiration (FBA) is one of the most important preventable causes of childhood mortality and morbidity. OBJECTIVE: The aim of this study was to define the clinical and radiological features of FBA and investigate the diagnostic value of various parameters used to diagnose FBA. METHODS: The medical records of 147 children who were admitted to the hospital with a diagnosis of suspected FBA were examined. The sensitivity and specificity of the parameters used for the diagnosis of FBA and their predictive values were calculated. RESULTS: Of the patients, 75.5% were younger than 3 years, and 61.2% were male. Peak incidence was found in 18 months. A negative bronchoscopy rate of 19.7% was found, and 92.6% of these patients were younger than 3 years. The parameter with the highest diagnostic value was the presence of aspiration history (the sensitivity and positive and negative predictive values were 97%, 89%, and 80%, respectively). No significant difference was found in the classic triad of FBA (sudden onset of cough, wheezing, and unilaterally decreased breath sounds) between patients with and without FBA. The specificity and positive predictive value of the classic triad were high, and the sensitivity and negative predictive value were low (85% and 78%, and 13% and 19%, respectively). CONCLUSIONS: Especially, male children younger than 3 years have an increased risk of FBA. Neither clinical symptoms nor the radiological findings alone are sufficiently specific and sensitive in diagnosing FBA. The most important factor for diagnosis is the presence of aspiration history.


Assuntos
Brônquios , Corpos Estranhos/diagnóstico , Corpos Estranhos/terapia , Traqueia , Broncoscopia , Criança , Pré-Escolar , Feminino , Corpos Estranhos/diagnóstico por imagem , Humanos , Lactente , Masculino , Valor Preditivo dos Testes , Radiografia , Sensibilidade e Especificidade
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