Ignite Creation Date:
2024-10-26 @ 3:43 PM
Last Modification Date:
2024-10-26 @ 3:43 PM
Study NCT ID:
NCT06649643
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-09-27
Brief Title:
Inbon Errors of Immunity Attending Assiut University ChildrenAmp39s Hospital a Single Center Study
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Inbon Errors of Immunity Attending Assiut University ChildrenAmp39s Hospital a Single Center Study
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Aim of Study The aim of this study to describe the clinical profile of children diagnosed as IEIs who were admitted to in Assiut university childrenamp39s Hospital
Detailed Description:
Introduction
Inborn errors of immunity IEIs are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency autoinflammation autoimmunity allergy andor cancer 1 IEIs are a group of diseases comprised of more than 450 IEIs and they are becoming more prevalent 2 Although IEIs are rare diseases they are more common than previously thought following the use of modern diagnostic methods A recent evaluation indicated that at least 1-2 of the worlds population are affected by IEIs 3 Several warning signs have been developed to increase physician awareness about the early signs that can help to diagnosis IEIs Warning signs of IEIs were developed by an institution called the Jeffrey Modell Foundation JMF 45 the ten warning signs are four or more new ear infections within 1 yeartwo or more serious sinus infections within 1 yeartwo or more months on antibiotics with little effecttwo or more pneumonias within 1 yearfailure of an infant to gain weight or grow normallyrecurrent deep skin or organ abscesses persistent thrush in mouth or fungal infection on skin need for intravenous antibiotics to clear infectionsTwo or more deep-seated infections including septicemia and family history of IEIs 6 The International Union of Immunological Societies IUIS has classified IEIs into nine categories based upon the segment of the immune system that is affected plus a 10th category of IEIs phenocopies Each category is characterized by unique types of infections and clinical features that are useful for the selection of initial appropriate laboratory evaluation to help with diagnosis 7 The mechanisms that explain the increased susceptibility of IEIs patients to the development of tumours are multiple and different in the various pathologies The most common process is the reduction of cell-mediated immunosurveillance which plays a fundamental role in protecting against tumours 89 Several pathways such as genomic instability overstimulation of immune cells viral infection and chronic inflammation have been proposed to explain the increased incidence of malignancy among patients with IEIs 10 Moreover defective dendritic cells DCs differentiation and function which affect the initiation and development of T cell responses have been associated with cancer development 11 The diagnostic investigation of IEIs should be guided by the clinical characterization of patients aiming to optimize the use of complementary tests Many diagnoses are attained only through genetic tests which are not always available However the absence of a diagnosis of certainty should never delay the implementation of therapeutic measures that preserve patient life and health 12 Major advances in the treatment of these disorders have occurred over the last half-century and deeper molecular understanding of many disorders combined with clinically available genetic testing is allowing for use of precision therapy for several IEIs Patients with antibody deficiencies who rely on immunoglobulin replacement therapy now have many treatment options with products that are much safer and better tolerated compared to the past 13 Steroids are often used as an initial therapy but have serious long-term complications Targeted immune therapies such as cytokine or small molecule inhibitors are increasingly available with the advantage of fewer global immune suppressive effects However patients with IEIs often do not have an adequate clinical response to immunosuppressive treatment resulting in referral for allogeneic hematopoietic cell transplantation HCT as a potentially curative therapy 1415
Inborn errors of immunity IEIs are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency autoinflammation autoimmunity allergy andor cancer 1 IEIs are a group of diseases comprised of more than 450 IEIs and they are becoming more prevalent 2 Although IEIs are rare diseases they are more common than previously thought following the use of modern diagnostic methods A recent evaluation indicated that at least 1-2 of the worlds population are affected by IEIs 3 Several warning signs have been developed to increase physician awareness about the early signs that can help to diagnosis IEIs Warning signs of IEIs were developed by an institution called the Jeffrey Modell Foundation JMF 45 the ten warning signs are four or more new ear infections within 1 yeartwo or more serious sinus infections within 1 yeartwo or more months on antibiotics with little effecttwo or more pneumonias within 1 yearfailure of an infant to gain weight or grow normallyrecurrent deep skin or organ abscesses persistent thrush in mouth or fungal infection on skin need for intravenous antibiotics to clear infectionsTwo or more deep-seated infections including septicemia and family history of IEIs 6 The International Union of Immunological Societies IUIS has classified IEIs into nine categories based upon the segment of the immune system that is affected plus a 10th category of IEIs phenocopies Each category is characterized by unique types of infections and clinical features that are useful for the selection of initial appropriate laboratory evaluation to help with diagnosis 7 The mechanisms that explain the increased susceptibility of IEIs patients to the development of tumours are multiple and different in the various pathologies The most common process is the reduction of cell-mediated immunosurveillance which plays a fundamental role in protecting against tumours 89 Several pathways such as genomic instability overstimulation of immune cells viral infection and chronic inflammation have been proposed to explain the increased incidence of malignancy among patients with IEIs 10 Moreover defective dendritic cells DCs differentiation and function which affect the initiation and development of T cell responses have been associated with cancer development 11 The diagnostic investigation of IEIs should be guided by the clinical characterization of patients aiming to optimize the use of complementary tests Many diagnoses are attained only through genetic tests which are not always available However the absence of a diagnosis of certainty should never delay the implementation of therapeutic measures that preserve patient life and health 12 Major advances in the treatment of these disorders have occurred over the last half-century and deeper molecular understanding of many disorders combined with clinically available genetic testing is allowing for use of precision therapy for several IEIs Patients with antibody deficiencies who rely on immunoglobulin replacement therapy now have many treatment options with products that are much safer and better tolerated compared to the past 13 Steroids are often used as an initial therapy but have serious long-term complications Targeted immune therapies such as cytokine or small molecule inhibitors are increasingly available with the advantage of fewer global immune suppressive effects However patients with IEIs often do not have an adequate clinical response to immunosuppressive treatment resulting in referral for allogeneic hematopoietic cell transplantation HCT as a potentially curative therapy 1415
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None