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NCT05870410 | Not yet recruiting | Inborn Errors of Immunity


Evaluation Of Non Infectious Presentation of Inborn Errors Of Immunity
Sponsor:

Sohag University

Information provided by (Responsible Party):

Amany Mansour Shalby

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 .

Condition or disease

Inborn Errors of Immunity

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

Study Type : Observational
Estimated Enrollment : 200 participants
Official Title: Evaluation Of Non Infectious Warning Signs Of Inborn Errors Of Immunity In Children At Sohag University Hospital
Actual Study Start Date : June 1, 2023
Estimated Primary Completion Date : May 2024
Estimated Study Completion Date : May 1, 2024

Information not available for Arms and Intervention/treatment

Ages Eligible for Study: 1 Day to 18 Years
Sexes Eligible for Study: All
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

Evaluation Of Non Infectious Presentation of Inborn Errors Of Immunity

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Evaluation Of Non Infectious Presentation of Inborn Errors Of Immunity

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Locations


Not yet recruiting

Egypt,

Sohag University Hospital

Sohag, Egypt,

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