RESUMO
We report a case of eosinophilic fasciitis in a teenage auto mechanic who was most likely affected by occupational exposure to organic solvents, including the aromatic hydrocarbons benzene, trimethylbenzene, naphthalene, toluene, and xylene. The patient presented with an 8-month history of painful induration of his extremities and an abnormal gait. A deep excisional biopsy of the fascia was obtained, demonstrating subcutaneous fibrosis with perivascular and interstitial inflammation, with lymphocytes and plasma cells spilling into the sclerosed fascia, and focal fibrinoid necrosis. Treatment was begun with intravenous pulse doses of methylprednisolone, prednisone (20 mg daily), and subcutaneous methotrexate (25 mg weekly), and the patient's painful induration had resolved and gait had normalized at the 6-month follow-up. Our case suggests that exposure to organic solvents could be implicated in the pathogenesis of eosinophilic fasciitis and highlights the importance of a thorough occupational history to prevent repeat exposures to potentially causative agents.
Assuntos
Eosinofilia , Fasciite , Adolescente , Humanos , Masculino , Fasciite/induzido quimicamente , Eosinofilia/induzido quimicamente , Tolueno , SolventesRESUMO
Background: Blood eosinophil count (BEC) is currently used as a surrogate marker of T2 inflammation in severe asthma but its relationship with tissue T2-related changes is elusive. Bronchial biopsy could add reliable information but lacks standardization. Objectives: To validate a systematic assessment of the bronchial biopsy for the evaluation of severe uncontrolled asthma (SUA) by standardizing a pathological score. Methods: A systematic assessment of submucosal inflammation, tissue eosinophilic count/field (TEC), goblet cells hyperplasia, epithelial changes, basement membrane thickening, prominent airway smooth muscle and submucosal mucous glands was initially agreed and validated in representative bronchial biopsies of 12 patients with SUA by 8 independent pathologists. In a second phase, 62 patients with SUA who were divided according to BEC≥300cells/mm3 or less underwent bronchoscopy with bronchial biopsies and the correlations between the pathological findings and the clinical characteristics were investigated. Results: The score yielded good agreement among pathologists regarding submucosal eosinophilia, TEC, goblet cells hyperplasia and mucosal glands (ICC=0.85, 0.81, 0.85 and 0.87 respectively). There was a statistically significant correlation between BEC and TEC (r=0.393, p=0.005) that disappeared after correction by oral corticosteroids (OCS) use (r=0.170, p=0.307). However, there was statistically significant correlation between FeNO and TEC (r=0.481, p=0.006) that was maintained after correction to OCS use (r=0.419, p=0.021). 82.4% of low-BEC had submucosal eosinophilia, 50% of them moderate to severe. Conclusion: A standardized assessment of endobronchial biopsy is feasible and could be useful for a better phenotyping of SUA especially in those receiving OCS. (AU)
Assuntos
Humanos , Asma/diagnóstico , Asma/tratamento farmacológico , Asma/patologia , Eosinofilia , Eosinófilos , Hiperplasia/patologia , Brônquios , InflamaçãoRESUMO
OBJETIVE: To describe the phenotype of DRESS syndrome induced by antituberculosis drugs. METHODS: Descriptive study, withdrawn from the review of the records of patients with DRESS syndrome, identified in the interconsultation of the Department of Research in Immunogenetics and Allergy, of the Insti-tuto Nacional de Enfermedades Respiratorias (INER) Ismael Cosío Villegas, among 2014 and 2020. Frequency analysis was performed. The associations between biomarkers and latency are calculated with the χ2 test and log-rank, and the evaluation of the change in the biomarkers with the Wilcoxon test. The value of p < 0.05 is considered statistically significant. For data analysis, the SPSS v.21 program was obtained. RESULTS: 15 patients were identified; represented by 0.02% of total cases treated in the Department for so-meimmuno-allergic condition (15/7052); the main symptomatology were: rash (100%), eosinophilia (93%), fe-ver (80%), adenomegaly (60%), kidney damage (40%), liver damage (33%), and latency of 21 days. Liver damage was associated with prolonged latency (p = 0.02). After treatment, the total levels of eosinophils (p < 0.001) and liver and kidney biomarkers (p < 0.04) decreased. DRESS syndrome induced by antituberculosis drugs is not associated with the number of drugs prescribed or with the pattern of resistance of Mycobacterium tuberculosis. CONCLUSIONS: DRESS syndrome induced by antituberculosis drugs is an atypical clinical reaction, similar to other types of DRESS syndrome that respond favorably to systemic corticosteroids.
OBJETIVO: Describir el fenotipo del síndrome de DRESS inducido por fármacos antituberculosos. MÉTODOS: Estudio descriptivo efectuado a partir de la revisión de los expedientes de pacientes con síndrome de DRESS, identificados en la interconsulta del Departamento de Investigación en Inmunogénetica y Alergia, del Instituto Nacional de Enfermedades Respiratorias (INER) Ismael Cosío Villegas, entre 2014 y 2020. Se realizó análisis de frecuencias. Las asociaciones entre biomarcadores y latencia se calcularon con la prueba de χ2 y log-rank, y la evaluación del cambio en los biomarcadores con la prueba de Wilcoxon. Se consideró esta-dísticamente significativo el valor de p < 0.05. Para el análisis de los datos se utilizó el programa SPSS v.21. RESULTADOS: Se identificaron 15 pacientes, que representaron el 0.2% de los casos atendidos en el Departa-mento por algún padecimiento inmuno-alérgico (15/7052); las principales manifestaciones fueron: exantema (100%), eosinofilia (93%), fiebre (80%), adenomegalia (60%), daño renal (40%), daño hepático (33%) y latencia de 21 días. El daño hepático se asoció con latencia prolongada (p = 0.02). Posterior al tratamiento disminu-yeron las concentraciones totales de eosinófilos (p < 0.001) y biomarcadores hepáticos y renales (p < 0.04). El síndrome de DRESS inducido por fármacos antituberculosos no se asoció con la cantidad de fármacos prescritos ni con el patrón de resistencia de Mycobacterium tuberculosis. CONCLUSIONES: El síndrome de DRESS inducido por fármacos antituberculosos es una reacción clínica atípica, similar a otros tipos de síndrome de DRESS que responden favorablemente a corticosteroides sisté-micos.
Assuntos
Antituberculosos , Síndrome de Hipersensibilidade a Medicamentos , Eosinofilia , Humanos , Corticosteroides/uso terapêutico , Antituberculosos/efeitos adversos , Síndrome de Hipersensibilidade a Medicamentos/etiologia , Eosinofilia/induzido quimicamente , EosinófilosRESUMO
CASE PRESENTATION: An 18-year-old man with no noted medical history from Northern India presented with history of fever for 15 days and nocturnal cough for 10 days. He denied breathlessness or wheeze. There was no medical history of asthma. He denied any current sinus-related symptoms, pruritis, skin rashes, lesions, or ulcers, abdominal pain, dysphagia, vomiting or diarrhea, numbness or tingling, joint pain, or food allergy. There was no recent exposure to a patient with TB or history of substance misuse. The patient had sought medical care 7 days before presentation for the same symptoms, and after a chest radiograph was obtained, the patient was started on an antitubercular regimen.
Assuntos
Asma , Eosinofilia , Masculino , Humanos , Adolescente , Diagnóstico Diferencial , Eosinofilia/complicações , Eosinofilia/diagnóstico , Dispneia/diagnóstico , Dispneia/etiologia , Febre , TosseRESUMO
RATIONALE: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare autoimmune disease that can affect multiple systems of the body and is characterized by asthma, blood and tissue eosinophilia, and small vascular inflammation. Eosinophilic tissue infiltration and extravascular granuloma formation can lead to any organ damage, but peripheral neuropathy is relatively rare. PATIENT CONCERNS: A 29-year-old male patient was admitted to the hospital due to fever and rash on both lower extremities for 18 days. The patient complained of muscle pain in both lower extremities, with nausea, anorexia, abdominal pain, and diarrhea. He had a 2-year history of asthma and bronchiectasis. The physical examination results were as follows: temperature, 37.8 °C; multiple patchy red rashes on both lower extremities; and no obvious abnormalities in other systems. The patient was negative for anti-neutrophil cytoplasmic antibody (ANCA). Chest computed tomography showed bilateral ground-glass opacities, small nodules, and bronchiectasis. Histopathology of rectal tissues revealed numerous eosinophilic infiltrations. One week after admission, the patient developed symptoms of peripheral nerve damage, presenting with distal weakness in both lower extremities, foot drop, cross-threshold gait, and hypoalgesia on the lateral sides of both lower legs. Electromyography showed that the motor sensory fibers of the lower extremities were damaged. DIAGNOSES: Referring to the diagnostic criteria of the American College of Rheumatology in 1990, the patient was diagnosed with systemic EGPA (vasculitic phase) with rare peripheral nerve damage. INTERVENTIONS: After diagnosis, the patient was administered oral prednisone (60 mg/d; 1.0 mg/kg/d), and cyclophosphamide (900 mg) was infused on the 5th and 18th days of hormone therapy. Prednisone was reduced to 50 mg/d 1 month thereafter. OUTCOMES: After 1+ months of treatment, most of the symptoms disappeared. Limb weakness did not improve. Currently, the patient is undergoing outpatient follow-up and is adhering to treatment. LESSONS: EGPA is a rare disease that can affect multiple systems and has diverse clinical manifestations, with no specific manifestations in the early stage. Diagnosis is difficult, and there is a high misdiagnosis rate. The rate of ANCA positivity for this disease is not high, and clinicians should consider the possibility of ANCA-negative EGPA.
Assuntos
Asma , Síndrome de Churg-Strauss , Eosinofilia , Granulomatose com Poliangiite , Traumatismos dos Nervos Periféricos , Masculino , Humanos , Adulto , Granulomatose com Poliangiite/complicações , Granulomatose com Poliangiite/diagnóstico , Granulomatose com Poliangiite/tratamento farmacológico , Síndrome de Churg-Strauss/complicações , Síndrome de Churg-Strauss/diagnóstico , Síndrome de Churg-Strauss/tratamento farmacológico , Anticorpos Anticitoplasma de Neutrófilos , Prednisona/uso terapêutico , Eosinofilia/complicações , Inflamação/complicações , Asma/complicações , Nervos PeriféricosRESUMO
RATIONALE: Cardiac tamponade, a condition in which the heart is compressed by pericardial fluid retention, is easy to diagnose; however, identifying the cause may be challenging since it can be caused by a variety of conditions, including trauma and pericardial disease. PATIENT CONCERNS: A 22-year-old man was admitted to the intensive care unit with respiratory failure. He had previously received allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia and developed chronic graft-versus-host disease (cGvHD) that was treated with a corticosteroid. At this time, he developed bilateral femur head necrosis and underwent surgery after discontinuation of the corticosteroid but developed respiratory failure postoperatively. The initial diagnosis was cardiac failure, which temporarily improved with treatment; however, eosinophilia and pericardial effusions became prominent. DIAGNOSES: Pericardial effusion gradually progressed, resulting in cardiac tamponade. INTERVENTIONS: Pericardiocentesis was performed. Eosinophilia could be the cause of cardiac tamponade; thus, corticosteroid was administered. OUTCOMES: Pericardial effusion improved remarkably after corticosteroid administration. The corticosteroid dose was gradually tapered, and the patient was discharged. LESSONS: This case presented with cardiac tamponade associated with eosinophilia, probably owing to graft-versus-host disease. This is an unusual condition associated with a history of hematologic neoplasms; although evaluation is challenging, appropriate assessment could help save the patient's life.
Assuntos
Tamponamento Cardíaco , Eosinofilia , Insuficiência Cardíaca , Derrame Pericárdico , Insuficiência Respiratória , Masculino , Humanos , Adulto Jovem , Adulto , Tamponamento Cardíaco/etiologia , Tamponamento Cardíaco/terapia , Tamponamento Cardíaco/diagnóstico , Derrame Pericárdico/etiologia , Derrame Pericárdico/terapia , Eosinofilia/complicações , Eosinofilia/tratamento farmacológico , Pericárdio , Insuficiência Cardíaca/complicações , Corticosteroides/uso terapêutico , Insuficiência Respiratória/complicaçõesRESUMO
The unbalanced translocation der (1;7)(q10;p10) is a characteristic cytogenetic abnormality observed in myelodysplastic syndrome (MDS). A 63-year-old man presented to our hospital with fever and lung disease. The chromosomal analysis of bone marrow cells showed 46, XY, +1, der (1;7)(q10;p10) in all four metaphases. The patient was diagnosed with MDS. Bronchoscope examination revealed organizing pneumonia. The patient's eosinophil count rose to 39% after 30 days. His fever and dyspnea worsened, and a skin rash (systemic erythema) appeared simultaneously. Therefore, the patient was commenced on azacitidine and corticosteroids. Although treatment with both drugs could control disease progression transiently, the WT-1 value and the percentage of myeloblasts in the patient's bone marrow increased. Therefore, the patient received hematopoietic stem cell transplantation from his haplo-identical donor daughter. Some reports have demonstrated that patients with MDS with der (1;7)(q10;p10) have better prognosis than those with other abnormalities, such as -7/7q-. However, reported cases with severe complications show very poor prognosis. MDS with der (1;7)(q10;p10) complicated by eosinophilia and organizing pneumonia have not been reported, and its prognosis is expected to be very poor. Our case suggests that such cases might quickly require hematopoietic stem cell transplantation before the disease worsens.
Assuntos
Eosinofilia , Síndromes Mielodisplásicas , Pneumonia em Organização , Masculino , Humanos , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/terapia , Síndromes Mielodisplásicas/diagnóstico , Aberrações Cromossômicas , Translocação Genética , Eosinofilia/complicaçõesRESUMO
A 10-year-old, spayed female, Domestic Shorthaired cat was referred for surgical removal of a mass on the left vulval fold. An impression smear revealed mixed cell inflammation, with eosinophils predominating focally, and a concurrent bacterial infection, suggesting a primarily inflammatory lesion. However, cytology of a fine-needle aspirate of the mass revealed a neoplastic epithelial cell population, confirmed on histopathology as an apocrine vulval adenocarcinoma with lymphatic invasion and marked tumour-associated tissue eosinophilia. One month after surgical excision of the mass, the cat developed inguinal metastatic lymphadenopathy and chemotherapy was initiated. The patient ultimately developed marked peripheral lymphadenomegaly and was euthanized due to concerns for overall quality of life and comfort. This case highlights that neoplasia should be a consistent differential diagnosis for eosinophilic infiltrates/inflammation. The distinct appearance of the two cytological samples in this case stresses the need for sampling of different sites of a lesion and the importance of not relying on superficial impression smears for clinical management and prognosis.
Assuntos
Adenocarcinoma , Neoplasias Ósseas , Doenças do Gato , Eosinofilia , Neoplasias das Glândulas Sudoríparas , Feminino , Animais , Gatos , Qualidade de Vida , Neoplasias Ósseas/veterinária , Eosinofilia/veterinária , Neoplasias das Glândulas Sudoríparas/veterinária , Adenocarcinoma/complicações , Adenocarcinoma/veterináriaRESUMO
BACKGROUND: To describe the clinical features and therapeutic outcomes of a prospective cohort of children with eosinophilic meningoencephalitis. METHODS: Children admitted with clinical features suggestive of meningitis along with cerebrospinal fluid (CSF) eosinophilia during the period of 14 years (2008 to 2021) were included. Their baseline characteristics, epidemiologic associations, and treatment outcomes were analyzed and compared with the previous studies. RESULTS: We identified 25 children (13 males) satisfying the inclusion criteria. The median age at presentation was 3.9 years (range 0.8 to 17 years); 68% were aged less than two years. Fourteen (56%) children had a history of exposure to snails. Most of them presented with fever, headache, irritability, lateral rectus palsy, and early papilledema. Symptoms started three to 42 days (median duration: 14 days) before admission to our center. All children had peripheral eosinophilia, which ranged from 9% to 41%. The mean CSF white blood cell count was 416/mm3 (range 50 to 1245 cells/mm3) with CSF eosinophilia ranging from 11% to 80%. Brain magnetic resonance imaging was done in 24 children and was normal in 15 (62.5%). Leptomeningeal enhancement was seen in two (8.3%) children, and other nonspecific changes were noted in seven (29.1%) children. All children recovered without any neurological deficits with a standard treatment regimen of albendazole and oral steroids. All were asymptomatic at the last follow-up. None of them had any recurrence during the follow-up period. CONCLUSION: We report one of the largest clinical series of children with eosinophilic meningoencephalitis from an endemic area of South India.
Assuntos
Angiostrongylus cantonensis , Infecções Parasitárias do Sistema Nervoso Central , Eosinofilia , Encefalite Infecciosa , Meningite , Meningoencefalite , Infecções por Strongylida , Masculino , Animais , Humanos , Criança , Lactente , Pré-Escolar , Adolescente , Infecções por Strongylida/tratamento farmacológico , Infecções por Strongylida/epidemiologia , Meningoencefalite/tratamento farmacológico , Meningoencefalite/epidemiologia , Meningite/diagnóstico , Eosinofilia/tratamento farmacológico , Eosinofilia/epidemiologia , Eosinofilia/diagnóstico , Resultado do TratamentoRESUMO
INTRODUCTION: Reported associations between World Trade Center (WTC) occupational exposure and chronic obstructive pulmonary disease (COPD) or asthma COPD overlap (ACO) have been inconsistent. Using spirometric case definitions, we examined that association in the largest WTC occupational surveillance cohort. METHODS: We examined the relation between early arrival at the 2001 WTC disaster site (when dust and fumes exposures were most intense) and COPD and ACO in workers with at least one good quality spirometry with bronchodilator response testing between 2002 and 2019, and no physician-diagnosed COPD before 9/11/2001. COPD was defined spirometrically as fixed airflow obstruction and ACO as airflow obstruction plus an increase of ≥ 400 ml in FEV1 after bronchodilator administration. We used a nested 1:4 case-control design matching on age, sex and height using incidence density sampling. RESULTS: Of the 17,928 study participants, most were male (85.3%) and overweight or obese (84.9%). Further, 504 (2.8%) and 244 (1.4%) study participants met the COPD and ACO spirometric case definitions, respectively. In multivariable analyses adjusted for smoking, occupation, cohort entry period, high peripheral blood eosinophil count and other covariates, early arrival at the WTC site was associated with both COPD (adjusted odds ratio [ORadj] = 1.34, 95% confidence interval [CI] 1.01-1.78) and ACO (ORadj = 1.55, 95%CI 1.04-2.32). CONCLUSION: In this cohort of WTC workers, WTC exposure intensity was associated with spirometrically defined COPD and ACO. Our findings suggest that early arrival to the WTC site is a risk factor for the development of COPD or of fixed airway obstruction in workers with pre-existing asthma.
Assuntos
Asma , Eosinofilia , Exposição Ocupacional , Doença Pulmonar Obstrutiva Crônica , Masculino , Humanos , Feminino , Broncodilatadores , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Doença Pulmonar Obstrutiva Crônica/etiologia , Asma/diagnóstico , Asma/epidemiologia , Pulmão , Exposição Ocupacional/efeitos adversos , Eosinofilia/complicaçõesRESUMO
BACKGROUND: Blood eosinophil count (BEC) is currently used as a surrogate marker of T2 inflammation in severe asthma but its relationship with tissue T2-related changes is elusive. Bronchial biopsy could add reliable information but lacks standardization. OBJECTIVES: To validate a systematic assessment of the bronchial biopsy for the evaluation of severe uncontrolled asthma (SUA) by standardizing a pathological score. METHODS: A systematic assessment of submucosal inflammation, tissue eosinophilic count/field (TEC), goblet cells hyperplasia, epithelial changes, basement membrane thickening, prominent airway smooth muscle and submucosal mucous glands was initially agreed and validated in representative bronchial biopsies of 12 patients with SUA by 8 independent pathologists. In a second phase, 62 patients with SUA who were divided according to BEC≥300cells/mm3 or less underwent bronchoscopy with bronchial biopsies and the correlations between the pathological findings and the clinical characteristics were investigated. RESULTS: The score yielded good agreement among pathologists regarding submucosal eosinophilia, TEC, goblet cells hyperplasia and mucosal glands (ICC=0.85, 0.81, 0.85 and 0.87 respectively). There was a statistically significant correlation between BEC and TEC (r=0.393, p=0.005) that disappeared after correction by oral corticosteroids (OCS) use (r=0.170, p=0.307). However, there was statistically significant correlation between FeNO and TEC (r=0.481, p=0.006) that was maintained after correction to OCS use (r=0.419, p=0.021). 82.4% of low-BEC had submucosal eosinophilia, 50% of them moderate to severe. CONCLUSION: A standardized assessment of endobronchial biopsy is feasible and could be useful for a better phenotyping of SUA especially in those receiving OCS.
Assuntos
Asma , Eosinofilia , Humanos , Eosinófilos , Brônquios , Hiperplasia/patologia , Asma/diagnóstico , Asma/tratamento farmacológico , Asma/patologia , Inflamação , BiópsiaRESUMO
The first protein-binding allosteric RNA-cleaving DNAzyme (RCD) obtained by direct in vitro selection against eosinophil peroxidase (EPX), a validated marker for airway eosinophilia, is described. The RCD has nanomolar affinity for EPX, shows high selectivity against related peroxidases and other eosinophil proteins, and is resistant to degradation by mammalian nucleases. An optimized RCD was used to develop both fluorescence and lateral flow assays, which were evaluated using 38â minimally processed patient sputum samples (23â non-eosinophilic, 15â eosinophilic), producing a clinical sensitivity of 100 % and specificity of 96 %. This RCD-based lateral flow assay should allow for rapid evaluation of airway eosinophilia as an aid for guiding asthma therapy.
Assuntos
DNA Catalítico , Peroxidase de Eosinófilo , Eosinofilia , Escarro , Animais , Humanos , DNA Catalítico/metabolismo , Peroxidase de Eosinófilo/metabolismo , Eosinofilia/diagnóstico , Eosinófilos/enzimologia , Escarro/química , Escarro/citologiaRESUMO
BACKGROUND: Eosinophilic gastritis/gastroenteritis (EoG/EoGE) are rare disorders with pathologic gastric and/or small intestinal eosinophilia lacking an approved therapy. An allergic mechanism is postulated but underexplored mechanistically and therapeutically. OBJECTIVE: We evaluated the effectiveness of a food allergen-free diet (elemental formula) in controlling gastrointestinal eosinophilia in adult EoG/EoGE. METHODS: Adults aged 18 to 65 years with histologically active EoG/EoGE (≥30 eosinophils per high-power field) in the stomach and/or duodenum and gastrointestinal symptoms within the month preceding enrollment were prospectively enrolled onto a single-arm clinical trial to receive elemental formula for 6 consecutive weeks. The primary end point was percentage of participants with complete histologic remission (<30 eosinophils per high-power field in both stomach and duodenum). Exploratory outcomes were improvement in symptoms, endoscopy results, blood eosinophilia, quality of life, Physician Global Assessment score, and EoG-relevant gastric transcriptome and microbiome. RESULTS: Fifteen adults (47% male, average age 37.7 years, average symptom duration 8.8 years) completed the trial. Multi-gastrointestinal segment involvement affected 87%. All subjects had complete histologic remission in the stomach (P = .002) and duodenum (P = .001). Scores improved in overall PhGA (P = .002); EGREFS (P = .003); EGDP (P = .002); SODA pain intensity (P = .044), non-pain (P = .039), and satisfaction (P = .0024); and PROMIS depression (P = .0078) and fatigue (P = .04). Food reintroduction reversed these improvements. The intervention was well tolerated in 14 subjects, with 1 serious adverse event reported in 1 subject. CONCLUSION: An amino acid-based elemental diet improves histologic, endoscopic, symptomatic, quality-of-life, and molecular parameters of EoG/EoGE; these findings and disease recurrence with food trigger reintroduction support a dominant role for food allergens in disease pathogenesis. CLINICALTRIALS: gov Identifier: NCT03320369.
Assuntos
Enterite , Eosinofilia , Esofagite Eosinofílica , Hipersensibilidade Alimentar , Gastroenterite , Adulto , Masculino , Humanos , Feminino , Estudos Prospectivos , Aminoácidos , Qualidade de Vida , Enterite/patologia , Eosinofilia/tratamento farmacológico , Alérgenos/uso terapêutico , Alimentos FormuladosRESUMO
BACKGROUND: Hyperimmunoglobulin E syndrome (HIES) due to dedicator of cytokinesis8 (DOCK8) deficiency may present in infancy and childhood with different clinical features involving recurrent infections, allergic dysregulation, and autoimmunity. CASE: In this report, we describe a patient who first presented with severe hypereosinophilia and went on to develop the syndrome of inappropriate antidiuretic hormone secretion (SIADH) in the context of a severe herpes infection. Investigation revealed the presence of underlying DOCK8 deficiency presenting with atypical clinical features. CONCLUSIONS: Distinct inflammatory features associated with infections may be seen in the course of primary immunodeficiency diseases, and early functional and molecular genetic tests will aid the proper management.
Assuntos
Eosinofilia , Hipersensibilidade , Síndrome de Secreção Inadequada de HAD , Síndrome de Job , Criança , Humanos , Fatores de Troca do Nucleotídeo Guanina/genética , Hipersensibilidade/complicações , Síndrome de Secreção Inadequada de HAD/diagnóstico , Síndrome de Secreção Inadequada de HAD/genética , Síndrome de Secreção Inadequada de HAD/complicações , Síndrome de Job/complicações , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Vasopressinas , LactenteRESUMO
In a registry-based analysis of 135 patients with "myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions" (MLN-TK; FIP1L1::PDGFRA, n = 78; PDGFRB, diverse fusions, n = 26; FGFR1, diverse, n = 9; JAK2, diverse, n = 11; ETV6::ABL1, n = 11), we sought to evaluate the disease-defining characteristics. In 81/135 (60%) evaluable patients, hypereosinophilia (>1.5 × 109/l) was observed in 40/44 (91%) FIP1L1::PDGFRA and 7/7 (100%) ETV6::ABL1 positive patients but only in 13/30 (43%) patients with PDGFRB, FGFR1, and JAK2 fusion genes while 9/30 (30%) patients had no eosinophilia. Monocytosis >1 × 109/l was identified in 27/81 (33%) patients, most frequently in association with hypereosinophilia (23/27, 85%). Overall, a blast phase (BP) was diagnosed in 38/135 (28%) patients (myeloid, 61%; lymphoid, 39%), which was at extramedullary sites in 18 (47%) patients. The comparison between patients with PDGFRA/PDGFRB vs. FGFR1, JAK2, and ETV6::ABL1 fusion genes revealed a similar occurrence of primary BP (17/104, 16% vs. 8/31 26%, p = 0.32), a lower frequency (5/87, 6% vs. 8/23, 35%, p = 0.003) of and a later progression (median 87 vs. 19 months, p = 0.053) into secondary BP, and a better overall survival from diagnosis of BP (17.1 vs. 1.7 years, p < 0.0008). We conclude that hypereosinophilia with or without monocytosis and various phenotypes of BP occur at variable frequencies in MLN-TK.
Assuntos
Eosinofilia , Linfoma , Transtornos Mieloproliferativos , Humanos , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Proteínas de Fusão Oncogênica/genética , Transtornos Mieloproliferativos/complicações , Eosinofilia/genética , Eosinofilia/complicações , Fusão GênicaRESUMO
Eosinophilic gastritis is characterized by gastrointestinal symptoms accompanied by peripheral eosinophilia. This study aims to explore the association between eosinophilic gastritis and Synaptosome Associated Protein 25 (SNAP25), and provide a new direction for the diagnosis and treatment of eosinophilic gastritis. GSE54043 was downloaded from the gene expression omnibus database. Differentially expressed genes (DEGs) were screened. The functions of common DEGs were annotated by Database for Annotation, Visualization and Integrated Discovery and Metascape. The protein-protein interaction network of common DEGs was obtained by Search Tool for the Retrieval of Interacting Genes and visualized by Cytoscape. Significant modules were identified from the protein-protein interaction network. A total of 186 patients with eosinophilic gastritis were recruited. The clinical data were recorded and the expression levels of CPE, SST, PCSK2, SNAP25, and SYT4 were detected. Pearson chi-square test and Spearman correlation coefficient were used to analyze the relationship between eosinophilic gastritis and related parameters. Univariate and multivariate Logistic regression were used for further analysis. 353 DEGs were presented. The top 10 genes screened by cytoHubb were shown, and Veen diagram figured out 5 mutual genes. Pearson's chi-square test showed that SNAP25 (P < .001) was significantly associated with eosinophilic gastritis. Spearman correlation coefficient showed a significant correlation between eosinophilic gastritis and SNAP25 (ρ = -0.569, P < .001). Univariate logistic regression analysis showed that SNAP25 (OR = 0.046, 95% CI: 0.018-0.116, P < .001) was significantly associated with eosinophilic gastritis. Multivariate logistic regression analysis showed that SNAP25 (OR = 0.024, 95% CI: 0.007-0.075, P < .001) was significantly associated with eosinophilic gastritis. The low expression of SNAP25 gene in eosinophilic gastritis is associated with a higher risk of eosinophilic gastritis.