RESUMEN
BACKGROUND: Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. CASE PRESENTATION: In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. CONCLUSION: The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient's frequent infections and fevers were controlled.
Asunto(s)
Síndromes de Inmunodeficiencia , Enfermedades de Inmunodeficiencia Primaria , Femenino , Humanos , Preescolar , Fosfatidilinositol 3-Quinasas/genética , Fosfatidilinositol 3-Quinasas/uso terapéutico , Fosfatidilinositol 3-Quinasa Clase I/genética , Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/genética , Enfermedades de Inmunodeficiencia Primaria/genética , Enfermedades de Inmunodeficiencia Primaria/complicaciones , Mutación , Fosfatidilinositol 3-Quinasa/genética , Fosfatidilinositol 3-Quinasa/uso terapéuticoRESUMEN
BACKGROUND: Musculoskeletal symptoms are a presenting manifestation in a number of lymphoproliferative disorders including leukemia, especially in children. Among these primary symptoms, midfoot arthritis seems to be an important alarm for malignancy in children. The aim of this study is evaluation association of midfoot arthritis with malignancy in children. METHOD: In this cross-sectional study, all medical records of patients with arthritis were identified and reviewed. All clinical and laboratory data were recorded in the information form and data were analyzed by SPSS 25 software. RESULTS: A total of 557 cases of arthritis were evaluated, of which 18 (3.2%) cases have primary symptoms of midfoot arthritis. Four of 18 patients (22.2%) had B-cell precursor acute lymphoblastic leukemia, that midfoot arthritis was their first manifestation. Also, their laboratory findings confirmed that platelet, lactic acid dehydrogenesis, and uric acid values were significantly higher in these children. Based on statistical evaluation, there was no significant difference between age and sex in these patients. CONCLUSION: According to the findings of the present study, it can be concluded that "midfoot arthritis" may be the first manifestation of leukemia in children even with a near-normal hematologic values.
RESUMEN
INTRODUCTION: Kawasaki disease (KD) is a systemic vasculitis that occurs mostly in children under five years old. Kawasaki affects the middle-size arteries, especially the coronary arteries. Therefore, without adequate treatment, it may cause coronary artery aneurysm in 25% of patients. The purpose of this study was to investigate the relationship between Kobayashi, Sano, and Egami criterions with coronary artery aneurysm in KD patients during the last ten years and to identify risk factors in patients with intravenous immunoglobulin (IVIG)-resistant and coronary artery aneurysms. METHODOLOGY: Medical records of 363 Kawasaki patients referred during 2008-2017 were reviewed. Patients' demographic data and Kobayashi, Sano, and Egami scores of each patient were calculated. Based on echocardiographic findings, cases of coronary artery aneurysm were determined. Sensitivity, specificity, positive and negative predictive value, and the accuracy of each criterion were determined to predicting IVIG resistance and detect coronary artery aneurysm. RESULTS: There was a slight relationship between IVIG-resistance in Kawasaki children and its prediction based on the Kobayashi risk score, but no relationship was found between the Egami and Sano criteria. Sixty-three patients (17.4%) had coronary artery lesions (CALs) on time of diagnosis. There were no statistically significant differences between gender and mean age of children with and without CALs. Also, there was no significant relationship between coronary artery aneurysm in Kawasaki children and its prediction based on the above three risk factors. The area under the ROC-curve of all three risk measures of Kobayashi, Egami, and Sano indicated that all three criteria were not useful in predicting CALs. CONCLUSION: Despite the low accuracy of the three above criteria to predictive of patients with IVIG resistance, it seems that the variables of age, duration of fever, and C-reactive protein (CRP) are more useful than other variables and may be utilized to evaluate patients by establishing a more appropriate cut-off point.