Evaluation Of Non Infectious Presentation of Inborn Errors Of Immunity

Study Overview
=================
Brief Summary
-----------------
Inborn errors of immunity (IEI) are a wide number of conditions featured by impaired immune response, and their classification is in a continuous update, with the discovery of new clinical entities . Historically, the warning signs to identify children at risk of IEI have been defined according to the susceptibility to multiple or severe infectious diseases. High recurrence of infections, severe infections with need for hospitalization, use of intravenous antibiotics, and delayed resolution (and recently, infections by unusual pathogens or restricted pathogen susceptibility) are universally recognized as red flags for IEI . Recent advances in the clinical comprehension of IEI,. the immune dysregulation observed in patients with IEI is clinically expressed with autoimmunity, atopy, and lymphoproliferation, and these manifestations represent the first sign of the disease in about 10% of the patients .

Detailed Description
-----------------
Inborn errors of immunity (IEI) are a wide number of conditions featured by impaired immune response, and their classification is in a continuous update, with the discovery of new clinical entities (1). Historically, the warning signs to identify children at risk of IEI have been defined according to the susceptibility to multiple or severe infectious diseases. High recurrence of infections, severe infections with need for hospitalization, use of intravenous antibiotics, and delayed resolution (and recently, infections by unusual pathogens or restricted pathogen susceptibility) are universally recognized as red flags for IEI . Recent advances in the clinical comprehension of IEI, together with the expansion of their genetic background and the formulation of specific genotype-phenotype correlations, allowed the better characterization of the non-infectious manifestations of IEI Specifically, the immune dysregulation observed in patients with IEI is clinically expressed with autoimmunity, atopy, and lymphoproliferation, and these manifestations represent the first sign of the disease in about 10% of the patients. Additionally, new diseases with predominant immune dysregulation phenotype in absence of a significant increase of infections have been identified, leading to an extension of the paradigm of immunodeficiency During the diagnostic work-up, patients with non-infectious onset of IEI are frequently addressed to different specialists, including hematologists, endocrinologists, rheumatologists, and allergologists, often resulting in a delayed diagnosis. In this paper, we provide a brief review on the non-infectious manifestations of IEI potentially evidenced at disease onset, focusing on the specific items to be considered for the different clinical specialists

Official Title
-----------------
Evaluation Of Non Infectious Warning Signs Of Inborn Errors Of Immunity In Children At Sohag University Hospital

Conditions
-----------------
Inborn Errors of Immunity

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Children age from zero day to 18 yrs. Children suffering from autoimmune cytopenia, eczema, nonmalignant lymphoproliferative disorder, autoimmune endocrinopathy, autoimmune enteropathy, rheumatological disease (SLE, vasculitis). Children with positive family history for inborn error of immunity Exclusion Criteria: • Children with secondary immune deficiency. Persons above 18 years old. Children who start therapy

Ages Eligible for Study
-----------------
Minimum Age: 1 Day
Maximum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Study Plan
=================
How is the study designed?
-----------------
What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| measurement of percentage of inborn errors of immunity among screened children. | measurement of percentage of inborn errors of immunity among screened children who presented with autoimmune cytopenia, eczema, nonmalignant lymphoproliferative disorder, autoimmune endocrinopathy, autoimmune enteropathy, rheumatological disease (SLE, vasculitis). | 1month |