scholarly journals AWARENESS OF DOCTORS AND PATIENTS ABOUT INBORN ERRORS OF IMMUNITY

2020 ◽  
Vol 11 (4) ◽  
pp. 16-21
Author(s):  
E.V. Zaitseva ◽  
Keyword(s):  
Quantitative Research ◽  
Complex Disease ◽  
Clinical Manifestations ◽  
The Body ◽  
Primary Immunodeficiencies ◽  
Malignant Neoplasms ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Child Patient ◽  
Primary Care Doctors

The immune system protects the body. When defenses are compromised, people with hereditary immunological disorders become vulnerable to many life-threatening infections. Inborn errors of immunity (primary immunodeficiencies), manifested in patients in increased susceptibility to infectious diseases, autoimmune diseases, allergies, and malignant neoplasms. Today, this group of diseases is still considered quite rare. However, the development of diagnostic technologies expands the list of nosologies associated with inborn errors of immunity. Neonatal screening for inborn errors of immunity could solve many of the problems of these patients, but the procedure is not carried out in the Russian Federation. Therefore, diagnostics based on an analysis of the clinical manifestations of diseases. In most cases, the disease is diagnosed in early childhood. Here, the role of both the parents of the child-patient and the medical staff is important. The health and life of the child depends on their awareness of the disease, methods of diagnosis, treatment. This group of diseases is chronic, under an hour, severe. In the absence of timely diagnosis and proper therapy, it can be fatal. The article describes the experience of applied quantitative research conducted by the method of questioning patients with primary immunodeficiencies (parents of underage patients), about their disease, methods of treatment, problems arising in the long-term struggle with this complex disease. The author notes that patients and primary care doctors or general practitioners are poorly informed about diseases associated with primary immunodeficiencies. It is concluded that it is necessary to increase the informational medical culture of the population, especially the young, as participants in the interaction "doctor-patient" and representatives of the interests of minor children-patients with inborn errors of immunity.

scholarly journals Treatment of immune-mediated cytopenias in patients with primary immunodeficiencies and immune regulatory disorders (PIRDs)

Hematology ◽  
2020 ◽  
Vol 2020 (1) ◽  
pp. 673-679
Author(s):  
Markus G. Seidel
Keyword(s):  
Lupus Erythematosus ◽  
Bone Marrow Failure ◽  
Primary Immunodeficiencies ◽  
Definitive Treatment ◽  
Inborn Errors ◽  
Hematopoietic Stem ◽  
Rheumatologic Diseases ◽  
Inborn Errors Of Immunity ◽  
Immune Mediated ◽  
Regulatory Disorders

Abstract Severe immune cytopenias (SICs) are rare acquired conditions characterized by immune-mediated blood cell destruction. They may necessitate emergency medical management and long-term immunosuppressive therapy, strongly compromising the quality of life. The initial diagnostic workup involves excluding malignancies, congenital cytopenias, bone marrow failure syndromes, infections, and rheumatologic diseases such as systemic lupus erythematosus. Causal factors for SIC such as primary immunodeficiencies or immune regulatory disorders, which are referred to as inborn errors of immunity (IEIs), should be diagnosed as early as possible to allow the initiation of a targeted therapy and avoid multiple lines of ineffective treatment. Ideally, this therapy is directed against an overexpressed or overactive gene product or substitutes a defective protein, restoring the impaired pathway; it can also act indirectly, enhancing a countermechanism against the disease-causing defect. Ultimately, the diagnosis of an underling IEI in patients with refractory SIC may lead to evaluation for hematopoietic stem cell transplantation or gene therapy as a definitive treatment. Interdisciplinary care is highly recommended in this complex patient cohort. This case-based educational review supports decision making for patients with immune-mediated cytopenias and suspected inborn errors of immunity.

scholarly journals Malignant Melanoma in Child with Xeroderma Pigmentosum: A Rare Case

2020 ◽  
Vol 32 (1) ◽  
pp. 70
Author(s):  
Riezky Januar Pramitha ◽  
Sawitri Sawitri
Keyword(s):  
Malignant Melanoma ◽  
Cell Carcinoma ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorder ◽  
Tumor Development ◽  
Clinical Manifestations ◽  
The Body ◽  
Malignant Neoplasms ◽  
Increased Risk

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by photosensitivity, cutaneous pigmentary changes, and malignant tumor development at an early age. The basic defect underlying the clinical manifestations is nucleotide excision repair defect, leading to defective repair of ultraviolet (UV)-induced DNA. XP patients who are younger than 20 years of age have more than 1000-fold increased risk of developing malignant neoplasms of the skin, which commonly include squamous cell carcinoma, basal cell carcinoma, fibrosarcoma, and malignant melanoma. Malignant melanoma arises in only about 3% of XP patients. Purpose: To report a case of malignant melanoma in a child with XP. Case: A 7-years-old girl presented with multiple hypopigmentation and hyperpigmentation macules since age of two, throughout the body, more on sun-exposed areas. The physical examination showed solitary tumor extensive ulcero- proliferative surface with areas of hemorrhage and blackish pigmentation on the vertex region. Histological examination revealed a feature of nodular malignant melanoma, and the condition became worse after she underwent two cycles of chemotherapy. Discussion: Despite the rare occurrence, the nodular type of malignant melanoma in XP patients is the most aggressive and responsible for the fatal condition. Conclusion: Early detection of XP is necessary due to its fast-growing nature and high metastatic possibility as well as mortality index.

scholarly journals Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

2021 ◽  
Author(s):  
Harsha Prasada Lashkari ◽  
Manisha Madkaikar ◽  
Aparna Dalvi ◽  
Maya Gupta ◽  
Jacinta Bustamante ◽  
...  
Keyword(s):  
Tertiary Care Hospital ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Warning Signs ◽  
Southern India ◽  
Care Hospital ◽  
Optimal Care ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity

Abstract Objectives To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India. Methods A retrospective analysis of all patients with a clinical suspicion of PID/IEI seen at a tertiary care hospital was performed. All patients had at least one or more warning signs of PID. Serum immunoglobulin levels and other targeted investigations were performed as warranted by the clinical presentation. All families with suspected PID were counseled and offered genetic testing. Results A total of 225 children were evaluated for PID during the study period of 6 y. Fifty-six of them did not meet the European Society of Immunodeficiencies (ESID) criteria (working definition of clinical diagnosis) and were excluded. An IEI was found in 30/49 (61.2%) patients. The most frequent reason for referral was recurrent/unusual or serious infections (28%), or cytopenia (16%). Group IV diseases of immune dysregulation was the most common category (19%), followed by group III predominant antibody deficiencies in 23/163 (14%), as per the International Union of Immunological Societies (IUIS) classification. Conclusions This study highlights the heterogeneity of the present cohort, the underuse of genetic tests, and efforts to provide optimal care for children with possible IEI in this center.

scholarly journals Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study

2022 ◽  
Vol 12 ◽  
Author(s):  
Ebe Schiavo ◽  
Beatrice Martini ◽  
Enrico Attardi ◽  
Filippo Consonni ◽  
Sara Ciullini Mannurita ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Warning Signs ◽  
Inborn Errors ◽  
Multiparametric Flow Cytometry ◽  
First Line Therapy ◽  
Inborn Errors Of Immunity ◽  
Autoimmune Cytopenias ◽  
A Prospective Study

Inborn errors of immunity (IEI) are genetic disorders characterized by a wide spectrum of clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation. Among these, primary immune regulatory disorders (PIRDs) are mainly presenting with autoimmune manifestations, and autoimmune cytopenias (AICs) can be the first clinical sign. Significantly, AICs in patients with IEI often fail to respond to first-line therapy. In pediatric patients, autoimmune cytopenias can be red flags for IEI. However, for these cases precise indicators or parameters useful to suspect and screen for a hidden congenital immune defect are lacking. Therefore, we focused on chronic/refractory AIC patients to perform an extensive clinical evaluation and multiparametric flow cytometry analysis to select patients in whom PIRD was strongly suspected as candidates for genetic analysis. Key IEI-associated alterations causative of STAT3 GOF disease, IKAROS haploinsufficiency, activated PI3Kδ syndrome (APDS), Kabuki syndrome and autoimmune lymphoproliferative syndrome (ALPS) were identified. In this scenario, a dysregulated immunophenotype acted as a potential screening tool for an early IEI diagnosis, pivotal for appropriate clinical management and for the identification of new therapeutic targets.

scholarly journals Acromegaly: Role of Surgery in the Therapeutic Armamentarium

2012 ◽  
Vol 2012 ◽  
pp. 1-13 ◽  
Author(s):  
Gerardo Guinto ◽  
Miguel Abdo ◽  
Erick Zepeda ◽  
Norma Aréchiga ◽  
Moisés Mercado
Keyword(s):  
Complex Disease ◽  
Hormone Receptors ◽  
Sella Turcica ◽  
Clinical Manifestations ◽  
Colonic Polyps ◽  
Great Majority ◽  
Residual Tumor ◽  
Somatostatin Analogues ◽  
The Body ◽  
The Face

Acromegaly is a complex disease that requires the intervention of a multidisciplinary team. The most frequent clinical manifestations are growing of distal parts of the body and some areas of the face. Patients may also present arterial hypertension, diabetes mellitus, colonic polyps, cardiomegaly, neurological and endocrine changes secondary to the presence of a GH-secreting tumor in pituitary or extrapituitary origin, or eutopic hypothalamic GHRH hypersecretion and peripheral GHRH hypersecretion. Surgery is the first treatment used for most patients, regardless of the cause. In the great majority of cases, pituitary tumor can be removed through a transsphenoidal approach. Craniotomy is reserved for those cases with giant tumors, particularly when they grow toward the middle or posterior cranial fossa. Best surgical results are obtained when the tumor is confined into the sella turcica or if it has a regular suprasellar extension. When the disease cannot be controlled with surgery, medical treatment is indicated. Somatostatin analogues are included as the first line of medication, followed by dopamine agonist and growth hormone receptors antagonists. Radiation therapy can be also indicated in two main forms for residual tumor with medically refractory patients: radiosurgery for small tumors or fractionated stereotactic radiotherapy for larger ones.

scholarly journals The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

2021 ◽  
Vol 41 (3) ◽  
pp. 666-679 ◽  
Author(s):  
Stuart G. Tangye ◽  
Waleed Al-Herz ◽  
Aziz Bousfiha ◽  
Charlotte Cunningham-Rundles ◽  
Jose Luis Franco ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Primary Immunodeficiencies ◽  
Expert Committee ◽  
International Union ◽  
Inborn Errors ◽  
Inborn Errors Of Immunity ◽  
Gene Defects ◽  
Immune Defects

AbstractThe most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

scholarly journals Functional genetics in inborn errors of immunity

2021 ◽  
pp. FRD11
Author(s):  
Emma Rey-Jurado ◽  
María Cecilia Poli
Keyword(s):  
Primary Immunodeficiencies ◽  
Genetic Defects ◽  
Potential Candidate ◽  
Functional Validation ◽  
Inborn Errors ◽  
Susceptibility To Infection ◽  
Inborn Errors Of Immunity ◽  
Genes Encoding ◽  
Generation Sequencing ◽  
Increased Susceptibility

Inborn errors of immunity are genetic defects of the immune system, causing increased susceptibility to infection, autoinflammation, autoimmunity and immune dysregulation. Next-generation sequencing has enabled exponential identification of novel inborn errors of immunity due to mutations in genes encoding for proteins that participate in the immune response. However, genomic sequencing often yields multiple variants in potential candidate genes, hence functional validation of these genetic defects becomes paramount to achieve diagnosis and discovery. Genome-editing technologies such as CRISPR-Cas9 have allowed exponential advances on discovery of new primary immunodeficiencies, enabling appropriate diagnosis and treatment. This review summarizes the heterogeneous clinical presentation of primary immunodeficiencies and contextualizes the rationale for functional validation studies to achieve diagnosis and discovery, subsequently leading to the application of directed therapies.

scholarly journals FEATURES OF DENTAL STATUS IN PATIENTS WITH CANCER

2019 ◽  
Vol 15 (1) ◽  
pp. 63-67 ◽  
Author(s):  
Ольга Успенская ◽  
Ol'ga Uspenskaya ◽  
Ирина Фадеева ◽  
Irina Fadeeva
Keyword(s):  
Oral Cavity ◽  
Cancer Patients ◽  
Mucous Membrane ◽  
Clinical Manifestations ◽  
The Body ◽  
Dental Status ◽  
Malignant Neoplasms ◽  
Patients With Cancer ◽  
Periodontal Tissues ◽  
Dental Diseases

Subject. In the modern world, the prevalence of cancer is growing every year, in this regard, this pathology is one of the most pressing problems in medicine. There is no doubt that malignant neoplasms have a complex interaction with the body. The General mechanisms of occurrence and progression of the tumor process are intensively studied, and to date, a huge amount of material on molecular and clinical Oncology has been accumulated, it is used in related disciplines. The most important sections of dentistry are the diagnosis and treatment of diseases of the mucous membrane. Often, clinical manifestations in the oral cavity are one of the first symptoms indicating a General somatic disease. This article covers the study of the dental status of patients with different localizations of cancer. Objective ― to study the incidence of dental diseases of patients with cancer. Methodology. To conduct a study medical examination of patients with different localizations of cancer was held to determine dental: the definition of DMF-Index, PMA-index, Parodontal Index, and the condition of the mucous membrane of the oral cavity and periodontal tissues. Cancer patients receiving chemotherapy and radiation therapy, patients who refused to participate in the survey were excluded from the survey. Results. The study included 526 patients. The predominance of certain types of dental diseases among patients with a particular cancer pathology was revealed. Conclusions. Our study showed that all patients had decompensated forms of caries. The most common dental diseases combined with cancer are hyperplasia filiform papillae (K14.3), the "geographic" language (K14.1). Periodontal disease occurred in 69,5 % of cases among cancer patients.

scholarly journals Outcome of SARS-CoV-2 Infection in 121 Patients With Inborn Errors of Immunity: A Cross-sectional Study

2021 ◽  
Author(s):  
ekaterini goudouris ◽  
Fernanda Pinto-Mariz ◽  
Leonardo Oliveira Mendonça ◽  
Carolina Sanchez Aranda ◽  
Rafaela Rolla Guimarães ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Case Fatality ◽  
Cross Sectional Study ◽  
Antibody Deficiency ◽  
Weak Correlation ◽  
Inborn Errors ◽  
Cross Sectional ◽  
Inborn Errors Of Immunity ◽  
Inflammatory Syndrome ◽  
Determining Factor

Abstract Purpose: There is still scarce data on SARS-CoV-2 infection in patients with Inborn Errors of Immunity (IEI) and many questions. We aimed to describe the clinical outcome of SARS-CoV-2 infection in Brazilian IEI patients and to identify factors influencing the outcome of infection.Methods: We did a cross-sectional, multicenter study that included patients of any age affected by IEI and SARS-CoV-2 infection. The variables studied were sex, age, type of IEI, comorbidities (number and type), treatment in use for IEI, clinical manifestations and severity of SARS-CoV-2 infection. Results: 121 patients were included: 55.4% female, ages from six months to 74 yo (median age = 25.1 yo). Most patients had predominantly antibody deficiency (n=53). The infection presented mostly as asymptomatic (n=21) and mild (n=66), and one child had multisystem inflammatory syndrome (MIS-C). We could not observe sex related susceptibility and observed a weak correlation between age and severity of infection. The number of comorbidities was higher in severe cases, particularly bronchiectasis and cardiopathy. There were no severe cases in hereditary angioedema patients. Six patients aged 2 to 74 years died, three of them with antibody deficiency. Conclusion: The outcome was mild in most patients, but the Case Fatality Ratio was higher than in the general population. Patients with complement deficiencies had milder COVID-19. However, the type of IEI was not a determining factor for severity. The severity of SARS-CoV-2 infection seems to be more related to older age, higher number of comorbidities and type of comorbidities (bronchiectasis and cardiopathy).

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