Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease

NCT ID: NCT05546775

Last Updated: 2022-09-21

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 30 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-09-20
• Study Completion Date: 2024-08-31

Brief Summary

Immunological profile and Clinical characteristics of children diagnosed with chronic granulomatous disease

Detailed Description

CGD "chronic granulomatous disease is a rare genetically determined disorder affecting the immune system characterized by recurrent and persistent bacterial and fungal infections due to the inability of the body's phagocytic cells (neutrophil and monocytes) to kill certain phagocytosed microorganisms.). CGD is caused by mutations in one of the five genes coding for NADPH(nicotinamide adenine dinucleotide phosphate ) oxidase subunits. Approximately 70% of cases are caused by mutations in the CYBB gene leading to X-linked CGD, which often causes a severe form of the disease. More than 700 pathogenic mutations in the CYBB gene encoding the gp91-phox protein have been documented. Other biallelic mutations in CYBA, NCF1, NCF2, and NCF4 cause autosomal recessive CGD. In addition, a novel ER-resident transmembrane protein called Eros (essential for reactive oxygen species) that is essential for the regulation of NADPH oxidase and controls the phagocyte respiratory burst was described. A homozygous CYBC1/EROS mutation was associated with the development of CGD Symptoms usually start in infancy or early childhood. Patients with the X-linked form of CGD (60-70% of patients) tend to present earlier and have more severe disease than patients with autosomal recessive forms. Most X-CGD develop failure to thrive,recurrentbacteriallymphadenitis and pneumonia due to catalase-positive organism especially staphylococcus, also skin, liver,and other internal organs abscesses, and osteomyelitis. In addition, CGD patients are more subjected to invasive lifethreatening fungal infections that affect the lungs and bones. Another problem with patients diagnosed with CGD is the excessive inflammatory reactions leading to granulomatous lesions that typically affects the bladder and gastrointestinal tract.

The primary diagnostic tests used in CGD functionally assess the NADPH complex in stimulated neutrophils.The dihydrorhodamine (DHR) assay is the gold standard for diagnosing CGD.

To the investigator's knowledge this will be the first study in Assiut University Children's Hospital to discuss the clinical characteristics and immunological profile of pediatric patients diagnosed as CGD in Assiut University Children's Hospital. In fact there is defect in data about CGD in upper Egypt .

Conditions

CGD

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Interventions

DHR

To describe the clinical characteristics and pattern of presentation of patients diagnosed as CGD in Assiut, and to find the most common presenting symptoms.

• To mention the immunological profile of patients diagnosed with CGD (Immunogloulins level - B, T, natural killer cells enumeration with flow cytometry- DHR123)
• To assess the growth parameters in patients with CGD.

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

Age at enrollment less than18 years. Both genders. Diagnosed as probable CGD.

Exclusion Criteria

Children above 18 years old. Children not fullfilling the criteria of CGD

• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assiut University

OTHER

Sponsor Role: lead

Responsible Party

Jehan Mostafa Abd Alhameed

Immunological profile and Clinical characteristics of children diagnosed with chronic granulomatous disease

Responsibility Role: PRINCIPAL_INVESTIGATOR

References

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Other Identifiers

Immunological profile and CGD

Identifier Type: -

Identifier Source: org_study_id