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BackgroundActivated phosphoinositide 3-kinase syndrome (APDS) is a rare inborn error of immunity with an autosomal-dominant inheritance pattern that leads to immune dysregulation. Presently, the natural history of diseas...

Allergic rhinitis (AR), asthma, and their combined allergic rhinitis and asthma syndrome (CARAS) frequently coexist. However, the underlying pathophysiological and metabolic mechanisms, as well as reliable diagnostic dif...

Abstract Background and Objective Children with rheumatic diseases experience social determinants of health that influence access to care and outcomes, yet data in pediatric rheumatology are limited. We aimed to characte...

Abstract Background Pediatric connective tissue disease-associated interstitial lung disease (CTD-ILD) is a rare but serious condition with limited clinical data; this study aimed to evaluate its clinical features, treat...

IntroductionPediatric-onset multiple sclerosis (POMS) poses unique therapeutic challenges due to high inflammatory activity, early cognitive and psychosocial impact, and difficulties with long-term treatment adherence. T...

Abstract Background Subtalar arthroereisis (STA) is a commonly used surgical approach for treating pediatric flatfoot. It remains unclear whether STA combined with spring ligament repair surgery is necessary. The purpose...

Abstract Introduction Respiratory syncytial virus (RSV) is the leading cause of respiratory infections and hospitalization among infants and a major burden on pediatric emergency department (EDs). Nirsevimab has recently...

Abstract Background Pediatric sepsis remains a leading cause of global mortality, necessitating early and accurate risk stratification. Traditional scoring systems often fail to capture the rapid, non-linear progression ...

IntroductionPediatric hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening condition characterized by aberrant immunopathology and systemic manifestations. The HLH-2004 protocol prioritizes urgent immunosuppre...

RationaleHypogammaglobulinemia increases the risk of life-threatening bacterial infections that require antibiotic treatment in pediatric patients. Only a handful of studies have looked at the prevalence of allergies in ...

Abstract Background Infectious diseases are a leading cause of Paediatric Emergency Department (PED) visits worldwide, characterised by significant clinical variability in both presentation and severity. Literature highl...

IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare disease characterized by early-onset, progressive symptoms. Delayed diagnosis and inadequate treatment in childhood may exacerbate disease m...

A 10-year-old patient was admitted to the pediatric sub-intensive care unit due to massive rectal bleeding and severe acute anemia. His medical background included Asperger syndrome and a history of chronic constipation ...

BackgroundAtopic Dermatitis (AD) in children is a common chronic skin condition characterized by dry, itchy and inflamed skin. Various treatments have been applied in the management of AD in children, but the differences...

IntroductionAlthough immune responses to Bacillus Calmette–Guérin (BCG) vaccination and susceptibility to mycobacterial infection vary across individuals, the underlying cellular mechanisms regulating this heterogenei...

BackgroundX-linked hyper IgM syndrome (XHIGM) is a rare primary immunodeficiency (PID) caused by pathogenic variants in the CD40 ligand (CD40LG) gene, resulting in defective immunoglobulin class-switch recombination, cau...

Background and AimsPediatric lymphoproliferative disorders (LPD), both malignant and nonmalignant, may conceal underlying inborn errors of immunity (IEI), yet systematic screening is rarely performed. We hypothesized tha...

BackgroundPediatric utilization of rituximab encompasses autoimmune, renal, hematologic, and neurologic conditions. Its association with secondary hypogammaglobulinemia and unmasking of inborn errors of immunity is well ...

IntroductionParvovirus B19 viremia has been reported as a cause of recurrent anemia in solid organ transplant (SOT) recipients. Many pediatric reports of this occurrence have been described in kidney transplant recipient...

RationaleRituximab is an anti-CD20 monoclonal antibody that can cause persistent hypogammaglobulinemia (PH) in 20–45% of patients, depending on the patient population. Risk factors for PH in pediatric patients followin...

IntroductionActivated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare disease characterized by progressive symptoms that begin early in life, including lymphoproliferation, recurrent and persistent infections, ...

Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...

BackgroundSevere leukocyte adhesion deficiency-I (LAD-I) results from biallelic deleterious ITGB2 variants leading to deficient/defective CD18 leukocyte expression and impaired endothelial adhesion and extravasation.Chil...

BackgroundLoss-of-function variants in magnesium transporter 1 (MAGT1) cause X-linked Immunodeficiency with Magnesium defect, Epstein-Barr virus infection, and Neoplasia (XMEN) disease through impaired glycosylation. The...