Evaluation Of Non Infectious Presentation of Inborn Errors Of Immunity

May 21, 2023 updated by: Amany Mansour Shalby, Sohag University

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

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 .

Study Overview

Status

Not yet recruiting

Conditions

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

Enrollment (Anticipated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: eman m fahmy, assitant lecturer
  • Phone Number: 01061277030

Study Locations

  • Egypt
      • Sohag, Egypt
        • Sohag University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Probability Sample

Study Population

- 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 immunit

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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.
Time Frame: 1month
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sohag University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

June 1, 2023

Primary Completion (Anticipated)

May 1, 2024

Study Completion (Anticipated)

May 1, 2024

Study Registration Dates

First Submitted

April 30, 2023

First Submitted That Met QC Criteria

May 21, 2023

First Posted (Actual)

May 23, 2023

Study Record Updates

Last Update Posted (Actual)

May 23, 2023

Last Update Submitted That Met QC Criteria

May 21, 2023

Last Verified

May 1, 2023

More Information

Terms related to this study

Other Study ID Numbers

  • Soh-Med-23-04-04MS

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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