Frequency of Skin Diseases in Children with Inborn Errors of Immunity

March 12, 2025 updated by: Norhan Gamal El-Deen Mohamed, Assiut University
  1. To detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital.
  2. To describe the pattern of dermatological manifestation among IEI patients present at Assiut University Children hospital.

Study Overview

Status

Not yet recruiting

Conditions

Detailed Description

The immune system is a complex network of cells and organs which cooperate to protect individuals against infectious microorganisms. B- and T- lymphocytes, phagocytic cells, and soluble factors such as complement are some of the major components of the immune system and have specific critical functions in immune defense. When part of the immune system is missing or does not work correctly, immunodeficiency occurs; it may be either congenital (primary) or acquired (secondary). Primary immunodeficiency diseases (PIDs), also known as inborn errors of the immune system (IEI), are a heterogeneous group of inherited disorders caused by genetic mutations that alter the immune system.

Individual IEI are rare, IEIs as a group are not, and they represent a significant health burden. The updated classification of Inborn Errors of Immunity (IEI), encompassing a total of 555 IEIs, and 17 phenocopies due to mutations in 504 different genes. IEIs are currently categorized into 10 categories, with overlapping phenotypes. These categories are Combined immunodeficiencies, Combined immunodeficiencies with syndromic features, Predominantly antibody deficiencies, Diseases of immune dysregulation, Congenital defects of phagocytes, Defects in intrinsic and innate immunity, Autoinflammatory diseases, Complement deficiencies, Bone Marrow Failure, and Phenocopies of inborn errors of immunity.

IEIs present clinically as increased susceptibility to infections, autoimmunity, autoinflammation, allergy, bone marrow failure, and/or malignancy. IEI is to be suspected if there is recurrent or opportunistic infections, organ specific inflammation, autoimmunity, or continuous systemic immune activation and/or benign or malignant, potentially virally induced lymphoproliferation or tumors are seen together, in various combinations.

The skin is an organ of great importance at the immunological level and is commonly affected in IEI. Although infections are the most common cutaneous finding in IEI patients, noninfectious skin diseases are also quite frequent among those patients. These include allergic, inflammatory autoimmune, and malignant manifestations. Also, pigmentary changes, angioedema, urticaria, vasculitis along with nonspecific findings of eczema, erythroderma, granuloma, and ectodermal dysplasia are among the early presenting symptoms in IEI.

Severe combined immunodeficiency (SCID) patients present with severe, recurrent viral and bacterial infections as well as opportunistic infections very early in life (before 6 months of age). IEI is associated with atopy commonly include severe atopic dermatitis as a distinctive characteristic of the disease due to an immune dysregulation that affects skin barrier function.

To the best of our knowledge, data about the cutaneous manifestations of IEI among patients attending Assiut university Children Hospital are lacking. Thus, the goal of this study is to describe the clinical characteristics of the skin manifestations of pediatric patients diagnosed with IEI, this may deepen the knowledge and increase awareness of physicians about alarming cutaneous finding for IEI, aiding in earlier diagnosis and better management of those patient.

Study Type

Observational

Enrollment (Estimated)

60

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

  • Name: Norhan Gamal Norhan Gamal El Deen Mohamed, resident doctor
  • Phone Number: 01069231210 egypt 01098107860
  • Email: norhangamal025@gmail.com

Study Contact Backup

  • Name: Naglaa Samy Naglaa Samy Mohammed Osman, associate professor
  • Phone Number: egypt 01002673103
  • Email: Naglaaosman84@aun.edu.eg

Study Locations

  • Egypt
      • Assiut, Egypt
        • Norhan Gamal

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

No

Sampling Method

Non-Probability Sample

Study Population

Age of patients below 18 years old. both sex,at the Allergy, Immunology, and Rheumatology Unit of Assiut University Children's Hospital

Description

Inclusion Criteria:

  • • Age of patients below 18 years old.

    • Both sexes.
    • Patients diagnosed with IEI according to the clinical and laboratory criteria outlined by the latest International Union of Immunological Societies (IUIS) classification or equivalent recognized diagnostic guidelines.

Exclusion Criteria:

  • Patients older than 18 years Patients not fulfilling the criteria for diagnosis of IEI or still not diagnosed yet.

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
detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital
Time Frame: from march 2025 to february 2026
To describe the pattern of dermatological manifestation among IEI patients present at Assiut University Children hospital
from march 2025 to february 2026

Collaborators and Investigators

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

Sponsor

Assiut 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 (Estimated)

April 1, 2025

Primary Completion (Estimated)

March 1, 2026

Study Completion (Estimated)

March 1, 2026

Study Registration Dates

First Submitted

March 8, 2025

First Submitted That Met QC Criteria

March 12, 2025

First Posted (Actual)

March 25, 2025

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

March 12, 2025

Last Verified

March 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • skin diseases in children IEM

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

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.

Clinical Trials on Skin Condition

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Japan

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe