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Autoimmune and Inflammatory Disorders Research / Immunodeficiency and Autoimmune Disorders · Journal article
The Journal of Pediatric Research · July 31, 2026
Early or partial results. Treat as a signal, not a conclusion.
This single-center retrospective cohort describes the clinical presentation, genetic subtypes, and treatment outcomes in 21 children with genetically confirmed immune dysregulation disorders. The study emphasizes that these conditions often present with non-infectious manifestations including lymphoproliferation, cytopenias, and autoimmunity, and demonstrates that hematopoietic stem cell transplantation achieved immune reconstitution in all surviving recipients.
Retrospective single-center observational cohort study. Children with genetically confirmed diseases of immune dysregulation meeting IUIS classification criteria followed at a tertiary pediatric immunology center; high frequency of parental consanguinity (71.4%) and family history of primary immunodeficiency (57.1%). Intervention: Varied therapeutic interventions including antimicrobial prophylaxis (90.5%), immunoglobulin replacement (66.7%), conventional immunosuppressive therapy (38.1%), biological or targeted therapy (33.3%), and hematopoietic stem cell transplan…. n = 21. Single tertiary pediatric immunology center; country and specific location not stated.
Median diagnostic delay of 28 months (interquartile range, 8–105.5 months) Regulatory T-cell defects were the most common subtype (52.4%, 11/21 patients) Lymphoproliferation occurred in 76.2% (16/21), hematologic abnormalities in 66.7% (14/21), autoimmunity in 52.4% (11/21)
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Clinicians should recognize that immune dysregulation disorders frequently present with non-infectious manifestations, integrate genetic testing into diagnostic pathways, and consider that substantial diagnostic delay is common (median 28 months). HSCT appears effective for achieving immune reconstitution in selected patients, though outcomes require confirmation in larger studies.
Single-center retrospective cohort of 21 children describing clinical and genetic spectrum of rare immune dysregulation disorders; descriptive analysis without comparator or control group, providing phenotypic characterization rather than outcome evidence.
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Clinicians should recognize that immune dysregulation disorders frequently present with non-infectious manifestations, integrate genetic testing into diagnostic pathways, and consider that substantial diagnostic delay is common (median 28 months). HSCT appears effective for achieving immune reconstitution in selected patients, though outcomes require confirmation in larger studies.
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Aim: Primary immune regulatory disorders represent a rapidly expanding subgroup of inborn errors of immunity.Unlike classical infectionpredominant immunodeficiencies, these disorders may initially present with autoimmunity, lymphoproliferation, cytopenias, dermatologic disease, allergy, enteropathy, hemophagocytic lymphohistiocytosis, or malignancy. Materials and Methods:We conducted a retrospective single-center observational cohort study of children with genetically confirmed diseases of immune dysregulation who had been followed at a tertiary pediatric immunology center between 2005 and 2025.Patients were included if their molecular diagnosis was classified under the International Union of Immunological Societies (IUIS) category of diseases of immune dysregulation.Demographic, clinical, genetic, therapeutic, transplant-related, and outcome data were extracted from the medical records and analyzed descriptively.Results: Twenty-one children were included.Parental consanguinity was frequent (71.4%), and more than half of the cohort had a family history of primary immunodeficiency (57.1%).A substantial diagnostic delay was observed, with a median delay of 28 months (interquartile range, 8-105.5).The most common IUIS subcategory was regulatory T-cell defects (52.4%), followed by familial hemophagocytic lymphohistiocytosis syndromes with hypopigmentation (19.0%), autoimmune lymphoproliferative syndrome (14.3%), susceptibility to Epstein-Barr virus and lymphoproliferative conditions (9.5%), and immune dysregulation with colitis (4.8%).The main clinical features were lymphoproliferation (76.2%), hematologic abnormalities (66.7%) and autoimmunity (52.4%).Notably, malignancy was documented in 2 patients (9.5%).Antimicrobial prophylaxis was administered in 90.5% of the patients, immunoglobulin replacement in 66.7%, conventional immunosuppressive therapy in 38.1%, and biological or targeted therapy in 33.3%.Hematopoietic stem cell transplantation (HSCT) was performed in 8 patients (38.1%); immune reconstitution was achieved in all of the surviving transplant patients.Conclusion: Pediatric diseases of immune dysregulation frequently present with non-infectious manifestations, particularly lymphoproliferation, cytopenias, autoimmunity, and dermatologic findings.Recognition beyond infection-centered warning signs, the integration of genetic testing, and the individualized use of targeted therapies or HSCT may improve care for this heterogeneous group of disorders.
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