Case Reports of Autoimmune Diseases

A special issue of Reports (ISSN 2571-841X).

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 14879

Special Issue Editor

1. Sección de Endocrinología y Nutrición, Hospital V. Álvarez Buylla, Calle Vistalegre, 2, 33611 Mieres, Asturias, Spain
2. Epigenética del Cáncer y Nanomedicina, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Hospital Universitario Central de Asturias, Avda. Hospital Universitario s/n, 33011 Oviedo, Spain
Interests: autoimmunity; T1D; cancer; epigenetics; aging
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Special Issue Information

Dear Colleagues,

The immune system has two complementary functions. The most intuitive known function is to identify foreign or abnormal elements in the organism to which it belongs, such as bacteria, viruses, and tumor cells, and control and eliminate them—this is habitually called the immune response. Another obvious but much less represented function of the immune system, however, is that it must identify healthy structures belonging to the said organism and respect them—this is known as immunological tolerance. This narrow field where the immune system should operate is located between two frontiers: the inability to respond adequately to nosological threats, which would imply a certain degree of immunodeficiency, and the inability to respect its own healthy structures, which would imply the processes of autoimmunity.

Up to 10% of the population has a diagnosis of an autoimmune disease, and such diseases are a common cause of medical consultation. Scientific advances and new therapeutic approaches (cancer immunotherapy, new immunosuppressants) and diagnostic tests (nuclear medicine imaging, radiometabolic studies, molecular biology, and genetics studies) have renewed interest in these diseases in the medical field. Their variability of clinical expression both by the structures that may be affected (connective tissue, skin, nervous system, endocrine, digestive, hematological) as well as the abnormal activation of different arms of the immune system and the degree of intensity of the underlying inflammation make each patient a particular case to study and learn about, and case reports are adequate tools to define specific characteristics of these diseases.

For this Special Issue, we are inviting manuscripts in “Case report” format with clinical interest related to this topic that shall allow further advancements in our knowledge of autoimmunity. We are particularly interested in pathophysiological studies, but diagnostic or therapeutic approaches will also be welcome.

Dr. Juan Luis Fernandez-Morera
Guest Editor

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Keywords

  • autoimmunity
  • immune response
  • autoantibodies
  • immunotolerance
  • autoimmune diseases

Published Papers (4 papers)

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10 pages, 263 KiB  
Case Report
Early Successful Eye Movement Desensitization and Reprocessing (EMDR) Therapy for Verbal Memory Impairment in an Adjustment Disorder: A Case Report in a Newly-Diagnosed Multiple Sclerosis Patient
by Eleonora Virgilio, Valentina Solara, Maria Francesca Sarnelli, Domizia Vecchio and Cristoforo Comi
Reports 2022, 5(2), 17; https://0-doi-org.brum.beds.ac.uk/10.3390/reports5020017 - 25 May 2022
Cited by 1 | Viewed by 2015
Abstract
Multiple sclerosis (MS) is a chronic inflammatory disease of the immune system affecting the central nervous system. Several phenotypes are possible, and cases usually present with a relapsing-remitting (RR) course with disease onset at a young age. MS diagnosis can represent a traumatic [...] Read more.
Multiple sclerosis (MS) is a chronic inflammatory disease of the immune system affecting the central nervous system. Several phenotypes are possible, and cases usually present with a relapsing-remitting (RR) course with disease onset at a young age. MS diagnosis can represent a traumatic event for the patient, possibly evolving into adjustment disorder (AD). AD is defined by the presence of emotional or behavioral symptoms in response to identifiable stress occurring within the prior three months and similarly to post-traumatic stress disorder (PTSD) can significantly affect quality of life. Usually, neuropsychological disorders are not associated with AD. Several treatments are available for AD, and among them, eye movement desensitization and reprocessing (EMDR) is one of the most effective in relieving depression and anxiety. However, little is known about AD and PTSD in the MS population and no data are available on the effectiveness of EMDR for cognitive impairment associated with AD. We describe a 25-year-old patient with RR MS developing an AD with a verbal memory deficit after being diagnosed. Both the psychological and cognitive deficits were diagnosed using an extensive neuropsychological battery. Considering the high impact of the verbal memory deficit, on the patient’s quality of life, an EMDR intervention was planned. After a six-month EMDR intervention performed by two trained neuropsychologists, the patient was retested. There was an improvement in verbal memory tests and depression anxiety scales and the Dissociative Experiences Scale. It is recognized that emotional changes and psychiatric disorders, frequently affect MS patients at diagnosis. It is imperative to recognize this and promptly set a neuropsychological treatment. Moreover, we suggest checking cognition along with depression and anxiety. Finally, to our knowledge, this is the first report of AD with an isolated neuropsychological deficit (verbal memory) developed after the MS diagnosis and treated beneficially with e EMDR. More studies are needed to confirm the efficacy of EMDR in treating cognitive impairment associated with AD in MS patients. Full article
(This article belongs to the Special Issue Case Reports of Autoimmune Diseases)
3 pages, 802 KiB  
Case Report
Acute Facial Edema in a Patient with Systemic Lupus Erythematosus
by Shiho Amano, Ryuichi Ohta and Chiaki Sano
Reports 2021, 4(3), 22; https://0-doi-org.brum.beds.ac.uk/10.3390/reports4030022 - 02 Aug 2021
Cited by 2 | Viewed by 6489
Abstract
Allergies have been found to be associated with systemic lupus erythematosus (SLE). However, few reports have described angioedema occurring in elderly men with systemic lupus erythematosus. Herein, we report the case of an 85-year-old man who presented with angioedema with eosinophilia. The patient [...] Read more.
Allergies have been found to be associated with systemic lupus erythematosus (SLE). However, few reports have described angioedema occurring in elderly men with systemic lupus erythematosus. Herein, we report the case of an 85-year-old man who presented with angioedema with eosinophilia. The patient was initially thought to have a drug-induced allergy. The differentiation between allergic reactions caused by drugs and those caused by eosinophilia with SLE can be challenging. The effect of the withdrawal of the suspected culprit drug and allergic dermal findings can be key to differentiating the two conditions. SLE is prevalent among younger generations; hence, active immunity can induce various symptoms, including eosinophilia, which causes angioedema. Even older people with SLE can have a strong immune reaction, resulting in angioedema with eosinophilia. In cases of localized facial edema in elderly patients with SLE, it is critical to consider angioedema caused by eosinophilia as a differential diagnosis. Full article
(This article belongs to the Special Issue Case Reports of Autoimmune Diseases)
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7 pages, 744 KiB  
Case Report
Targeted Therapy with Sirolimus and Nivolumab in a Child with Refractory Multifocal Anaplastic Ependymoma
by Katia Perruccio, Angela Mastronuzzi, Marco Lupattelli, Francesco Arcioni, Ilaria Capolsini, Carla Cerri, Grazia M. I. Gurdo, Maria Speranza Massei, Elena Mastrodicasa and Maurizio Caniglia
Reports 2021, 4(2), 12; https://0-doi-org.brum.beds.ac.uk/10.3390/reports4020012 - 11 May 2021
Cited by 2 | Viewed by 2477
Abstract
Pediatric ependymoma (EPN) is the third most common central nervous system (CNS) tumor, with 90% arising intracranially. Management typically involves maximal surgical resection and radiotherapy, but patients’ outcome is poor. Moreover, there are only a few therapeutical options available for recurrent or refractory [...] Read more.
Pediatric ependymoma (EPN) is the third most common central nervous system (CNS) tumor, with 90% arising intracranially. Management typically involves maximal surgical resection and radiotherapy, but patients’ outcome is poor. Moreover, there are only a few therapeutical options available for recurrent or refractory disease. In this report, we present the case of a 7-year-old girl with relapsed refractory multifocal grade III EPN who failed conventional treatments and experienced a stable and durable response to the immune checkpoint inhibitor (ICPI) nivolumab in association with the mammalian target of rapamycin (m-TOR) inhibitor sirolimus. This experimental therapy was targeted on immune phenotypical analyses of the patient’s last relapse tumor sample, and this procedure should be routinely done to find new possible therapeutical approaches in recurrent solid tumors. Full article
(This article belongs to the Special Issue Case Reports of Autoimmune Diseases)
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6 pages, 1309 KiB  
Case Report
Polyglandular Autoimmune Syndrome Triggered after CTLA-4 and PD-1L Immunotherapy Treatment
by Juan Luis Fernández-Morera, Alfredo Renilla González, Carmen Elena Calvo Rodríguez and Judit Romano-García
Reports 2021, 4(1), 1; https://0-doi-org.brum.beds.ac.uk/10.3390/reports4010001 - 14 Jan 2021
Viewed by 2092
Abstract
Background: CTLA-4 and PD-1L are novel immune checkpoint targets for cancer treatment with specific side effects such as autoimmune diseases. Less frequently, the presence of several autoimmune diseases in the same patient has been described. In this communication, we illustrate the case of [...] Read more.
Background: CTLA-4 and PD-1L are novel immune checkpoint targets for cancer treatment with specific side effects such as autoimmune diseases. Less frequently, the presence of several autoimmune diseases in the same patient has been described. In this communication, we illustrate the case of a 45-year-old patient with a previous diagnosis of advanced cancer that, after starting treatment with this immunotherapy, developed in the following months autoimmune diabetes, lymphocytic hypophysitis, and a Hashimoto thyroiditis in an abrupt and intense manner that would correspond to an autoimmune polyglandular disease. Discussion: The activation of autoimmunity and associated diseases is increasing in parallel with augmented indication of these immunotherapeutic treatments in cancer patients. A closer follow-up of these patients could be necessary for an optimal approach to this type of pathology. Conclusions: Different autoimmune diseases can converge in the same patient when immunotherapy for cancer is indicated to boost immune response against tumor, caused by altering immune tolerance. Full article
(This article belongs to the Special Issue Case Reports of Autoimmune Diseases)
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