Skin ConditionNCT06876337
Frequency of Skin Diseases in Children with Inborn Errors of Immunity
An observational study of Skin Condition, run by Assiut University at 1 site in Egypt.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 day to 18 years
- Conditions the study is for
- Skin Condition
- How many people
- 60 participants
- Where
- 1 siteEgypt
- Study dates
- 1 Apr 2025to Mar 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Age of patients below 18 years old. both sex,at the Allergy, Immunology, and Rheumatology Unit of Assiut University Children's Hospital
Who may be able to join
- • 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.
Who cannot join
- Patients older than 18 years Patients not fulfilling the criteria for diagnosis of IEI or still not diagnosed yet.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Norhan Gamal Norhan Gamal El Deen Mohamed, resident doctor contact
Naglaa Samy Naglaa Samy Mohammed Osman, associate professor contact
About this study
- To detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital.
- To describe the pattern of dermatological manifestation among IEI patients present at Assiut University Children hospital.
Read the 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.
- Conditions
- Skin Condition
- Medical subject headings
- Skin Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital
To describe the pattern of dermatological manifestation among IEI patients present at Assiut University Children hospital
Measured: from march 2025 to february 2026
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Mar 2025
- Study start1 Apr 2025 (estimated)
- Primary completion1 Mar 2026 (estimated)
- Study completionMar 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Skin ConditionStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Norhan Gamal El-Deen Mohamed, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06876337
- Sponsor's protocol ID
- skin diseases in children IEM
- Status last verified
- Mar 2025
- First submitted
- 8 Mar 2025
- Last updated
- 14 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Al-Herz W, Zainal M, Nanda A. A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years. Front Immunol. 2021 Sep 30;12:751469. doi: 10.3389/fimmu.2021.751469. eCollection 2021.
PubMed 34659256Kang JM, Kim SK, Kim D, Choi SR, Lim YJ, Kim SK, Park BK, Park WS, Kang ES, Ko YH, Choe YH, Lee JW, Kim YJ. Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase delta Syndrome 1: the First Case Series in Korea. Yonsei Med J. 2020 Jun;61(6):542-546. doi: 10.3349/ymj.2020.61.6.542.
PubMed 32469178Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015 Oct 29;1:15061. doi: 10.1038/nrdp.2015.61.
PubMed 27189259Cagdas D, Ayasun R, Gulseren D, Sanal O, Tezcan I. Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective. J Allergy Clin Immunol Pract. 2023 Oct;11(10):3030-3039. doi: 10.1016/j.jaip.2023.06.037. Epub 2023 Jun 28.
PubMed 37391021Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014 Apr;46(2):112-9. doi: 10.1007/s12016-013-8377-8.
PubMed 23760761Allenspach E, Torgerson TR. Autoimmunity and Primary Immunodeficiency Disorders. J Clin Immunol. 2016 May;36 Suppl 1:57-67. doi: 10.1007/s10875-016-0294-1. Epub 2016 May 23.
PubMed 27210535de Wit J, Brada RJK, van Veldhuizen J, Dalm VASH, Pasmans SGMA. Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data. Allergy. 2019 Mar;74(3):464-482. doi: 10.1111/all.13681. Epub 2018 Dec 27.
PubMed 30480813Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, Arkwright PD. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011 May;127(5):810-6. doi: 10.1542/peds.2010-3680. Epub 2011 Apr 11.
PubMed 21482601Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci. 2011 Nov;1238:7-14. doi: 10.1111/j.1749-6632.2011.06206.x.
PubMed 22129048Kobrynski L, Powell RW, Bowen S. Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007. J Clin Immunol. 2014 Nov;34(8):954-61. doi: 10.1007/s10875-014-0102-8. Epub 2014 Sep 26.
PubMed 25257253Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019 Apr 16;10:777. doi: 10.3389/fimmu.2019.00777. eCollection 2019.
PubMed 31057537
Study at a glance
From the registry record, last updated by the sponsor on 14 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency of Skin Diseases in Children with Inborn Errors of Immunity
- ClinicalTrials.gov ID
- NCT06876337
- Acronym / sponsor ID
- skin diseases in children IEM
- Conditions
- Skin Condition
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 1 Apr 2025 (estimated)
- Primary completion
- 1 Mar 2026 (estimated)
- Study completion
- Mar 2026 (estimated)
- First posted
- 14 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
- To detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital.
- To describe the pattern of dermatological manifestation among IEI patients present at Assiut University Children hospital.
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 1 day to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Age of patients below 18 years old. both sex,at the Allergy, Immunology, and Rheumatology Unit of Assiut University Children's Hospital
Key inclusion criteria (3 listed)
- • Age of patients below 18 years old.
Key exclusion criteria (1 listed)
- Patients older than 18 years Patients not fulfilling the criteria for diagnosis of IEI or still not diagnosed yet.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Mar 2025.
- Background: PubMed 34659256Al-Herz W, Zainal M, Nanda A. A Prospective Survey of Skin Manifestations in Children With Inborn Errors of Immunity From a National Registry Over 17 Years. Front Immunol. 2021 Sep 30;12:751469. doi: 10.3389/fimmu.2021.751469. eCollection 2021.
- Background: PubMed 32469178Kang JM, Kim SK, Kim D, Choi SR, Lim YJ, Kim SK, Park BK, Park WS, Kang ES, Ko YH, Choe YH, Lee JW, Kim YJ. Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase delta Syndrome 1: the First Case Series in Korea. Yonsei Med J. 2020 Jun;61(6):542-546. doi: 10.3349/ymj.2020.61.6.542.
- Background: PubMed 27189259Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015 Oct 29;1:15061. doi: 10.1038/nrdp.2015.61.
- Background: PubMed 37391021Cagdas D, Ayasun R, Gulseren D, Sanal O, Tezcan I. Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective. J Allergy Clin Immunol Pract. 2023 Oct;11(10):3030-3039. doi: 10.1016/j.jaip.2023.06.037. Epub 2023 Jun 28.
- Background: PubMed 23760761Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014 Apr;46(2):112-9. doi: 10.1007/s12016-013-8377-8.
- Background: PubMed 27210535Allenspach E, Torgerson TR. Autoimmunity and Primary Immunodeficiency Disorders. J Clin Immunol. 2016 May;36 Suppl 1:57-67. doi: 10.1007/s10875-016-0294-1. Epub 2016 May 23.
- Background: PubMed 30480813de Wit J, Brada RJK, van Veldhuizen J, Dalm VASH, Pasmans SGMA. Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data. Allergy. 2019 Mar;74(3):464-482. doi: 10.1111/all.13681. Epub 2018 Dec 27.
- Background: PubMed 21482601Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, Arkwright PD. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011 May;127(5):810-6. doi: 10.1542/peds.2010-3680. Epub 2011 Apr 11.
- Background: PubMed 22129048Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann N Y Acad Sci. 2011 Nov;1238:7-14. doi: 10.1111/j.1749-6632.2011.06206.x.
- Background: PubMed 25257253Kobrynski L, Powell RW, Bowen S. Prevalence and morbidity of primary immunodeficiency diseases, United States 2001-2007. J Clin Immunol. 2014 Nov;34(8):954-61. doi: 10.1007/s10875-014-0102-8. Epub 2014 Sep 26.
- Background: PubMed 31057537Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019 Apr 16;10:777. doi: 10.3389/fimmu.2019.00777. eCollection 2019.
Related trials for Skin Condition
Not yet recruitingPhase 2
Extension Study of Safety and Tolerability of DDY391 in Participants With Moderate to Severe Psoriatic Arthritis (CDDY391A12201-extension)
Moderate to Severe Psoriatic Arthritis
RecruitingPhase 1/2
Study of INBRX-106 and INBRX-106 in Combination With Pembrolizumab (Keytruda®) in Subjects With Locally Advanced or Metastatic Solid Tumors (Hexavalent OX40 Agonist)
Solid Tumor, Non-Small Cell Lung Cancer
RecruitingPhase 1
IL-17 Blockade to Decrease irAEs (REPLAY)
Metastatic Melanoma
Active, not recruiting
Streamlined Geriatric and Oncological Evaluation Based On IC Technology
Breast Cancer, Comorbidities and Coexisting Conditions
RecruitingPhase 2
Gene Signatures to Guide HR+MBC Therapy in a Diverse Cohort
Invasive Mammary Carcinoma, Metastatic Breast Cancer
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Norhan Gamal Norhan Gamal El Deen Mohamed, resident doctor contact
Naglaa Samy Naglaa Samy Mohammed Osman, associate professor contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Skin Condition, run by Assiut University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 14 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Norhan Gamal Norhan Gamal El Deen Mohamed, resident doctor (egypt 01098107860 ext. 01069231210, norhangamal025@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
detect the prevalence of skin diseases in patients with IEI in Assiut university Children hospital (time frame: from march 2025 to february 2026). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06876337, which also lists 11 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Mar 2025.