Dataset Information

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome.

ABSTRACT: In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndrome). This case shows that susceptibility to EBV seems to be particular of ICF-2 as it has not been described in the other types of ICF. It is mandatory to raise the hypothesis of an underlying PID in case of severe EBV infection.

SUBMITTER: Padeira GL

PROVIDER: S-EPMC8113761 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome.

Padeira Gonçalo Luzes GL Araújo Catarina C Cordeiro Ana Isabel AI Freixo João J Martins Catarina Gregório CG Neves João Farela JF

Frontiers in immunology 20210428

In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndrome). This case shows that susceptibility to EBV seems to be particular of ICF-2 as it ...[more]

PMID: 33995370

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Project description:A 26 year old female presented for recurrent blood tinged sputum during the previous year with development of frank hemoptysis three days prior to admission. Diffuse alveolar hemorrhage (DAH) was confirmed with serial lavages. The patient had no history of autoimmune disease, vascular thrombosis or pregnancy morbidity including miscarriages or pre-eclampsia. High dose steroids were initiated along with noninvasive ventilatory support. Transthoracic echocardiogram showed severe mitral regurgitation and a vegetation on the mitral valve; transesophageal echocardiogram determined the lesion highly suggestive of Libman-Sachs endocarditis. Blood cultures were negative. Immunological evaluation established the patient was negative for: anti-nuclear antibody, anti-double-stranded DNA antibody, rheumatoid factor, anti-smith antibody, anti-cyclic citrullinated peptide, anti-neutrophil cytoplasmic antibodies, anti-glomerular basement membrane antibodies. Further evaluation revealed elevated levels of anticardiolipin immunoglobulin G and anti-beta 2 glycoprotein immunoglobulin G which continued to increase for months after hospitalization. She was diagnosed with DAH secondary to acute mitral regurgitation caused by Libman-Sachs endocarditis in the presence of primary antiphospholipid antibody syndrome. DAH is an important disease to understand given its high mortality rate. Few case reports relating the presence of Libman-Sachs endocarditis induced by antiphospholipid antibody syndrome leading to DAH have been published. Unique here is the absence of rheumatologic markers thus supporting a diagnosis of primary antiphospholipid antibody syndrome (APS). This patient had no findings associated with rheumatological disorders potentially making this diagnosis easily overlooked. This case further illustrates the importance of evaluating patients with APS presenting with DAH as there are multiple etiologies that lead to this pathology thus different treatment avenues are to be considered during management.

Project description:RationalePyomyositis is a microbial infection of the muscles and contributes to local abscess formation. Staphylococcus aureus frequently causes pyomyositis; however, transient bacteremia hinders positive blood cultures and needle aspiration does not yield pus, especially at the early disease stage. Therefore, identifying the pathogen is challenging, even if bacterial pyomyositis is suspected. Herein, we report a case of primary pyomyositis in an immunocompetent individual, with the identification of S aureus by repeated blood cultures.Patient concernsA 21-year-old healthy man presented with fever and pain from the left chest to the shoulder during motion. Physical examination revealed tenderness in the left chest wall that was focused on the subclavicular area. Ultrasonography showed soft tissue thickening around the intercostal muscles, and magnetic resonance imaging with short-tau inversion recovery showed hyperintensity at the same site. Oral nonsteroidal anti-inflammatory drugs for suspected virus-induced epidemic myalgia did not improve the patient's symptoms. Repeated blood cultures on days 0 and 8 were sterile. In contrast, inflammation of the soft tissue around the intercostal muscle was extended on ultrasonography.DiagnosesThe blood culture on day 15 was positive, revealing methicillin-susceptible S aureus JARB-OU2579 isolates, and the patient was treated with intravenous cefazolin.InterventionsComputed tomography-guided needle aspiration from the soft tissue around the intercostal muscle without abscess formation was performed on day 17, and the culture revealed the same clone of S aureus.OutcomesThe patient was diagnosed with S aureus-induced primary intercostal pyomyositis and was successfully treated with intravenous cefazolin for 2 weeks followed by oral cephalexin for 6 weeks.LessonsThe pyomyositis-causing pathogen can be identified by repeated blood cultures even when pyomyositis is non-purulent but suspected based on physical examination, ultrasonography, and magnetic resonance imaging findings.

Dataset Information

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome.

Publications

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome.

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