Evaluation Of Non Infectious Presentation of Inborn Errors Of Immunity

NCT05870410 | Unknown

• 1 other identifier: Soh-Med-23-04-04MS
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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 .

Conditions

Inborn Errors of Immunity

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 1 Day - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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

You may not qualify if:

• Children with secondary immune deficiency.
• Persons above 18 years old.
• Children who start therapy

Sponsors & Collaborators

• Sohag University: lead

Study Sites (1)

Sohag University Hospital

Sohag, Egypt

Location

Related Publications (4)

• Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17.

  PMID: 31953710 BACKGROUND

• Giardino G, Gallo V, Prencipe R, Gaudino G, Romano R, De Cataldis M, Lorello P, Palamaro L, Di Giacomo C, Capalbo D, Cirillo E, D'Assante R, Pignata C. Unbalanced Immune System: Immunodeficiencies and Autoimmunity. Front Pediatr. 2016 Oct 6;4:107. doi: 10.3389/fped.2016.00107. eCollection 2016.

  PMID: 27766253 BACKGROUND

• Arkwright 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.

  PMID: 22129048 BACKGROUND

• Thalhammer J, Kindle G, Nieters A, Rusch S, Seppanen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23.

  PMID: 33895260 BACKGROUND

Central Study Contacts

amany m shalby, resident

CONTACT

01146195556; amanymansour@med.sohag.edu.eg

eman m fahmy, assitant lecturer

CONTACT

01061277030

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: pediateric resident

Study Record Dates

• First Submitted: April 30, 2023
• First Posted: May 23, 2023
• Study Start: June 1, 2023
• Primary Completion: May 1, 2024
• Study Completion: May 1, 2024
• Last Updated: May 23, 2023

Record last verified: 2023-05

Locations

EG (1)