Association of NLRP3 single nucleotide polymorphisms with juvenile idiopathic arthritis: a case-control study.

Background: Although juvenile idiopathic arthritis (JIA) is one of the most common pediatric rheumatologic diseases, the exact etiology of JIA remains unclear. Genetic factors, including variations in the NLRP3 gene, have been implicated in the pathogenesis of autoimmune diseases. Therefore, we aimed to investigate the association between NLRP3 polymorphisms and JIA.

Misdiagnosed for 14 Years: Adenosine Deaminase 2 (ADA2) Deficiency in a Teen Mimicking Polyarteritis Nodosa.

The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder caused by loss of function mutations in the ADA2 gene (previously the CECR1 gene) on chromosome 22q11. The clinical spectrum of the disease is remarkably broad, and its presentations mimic features of polyarteritis nodosa, such as livedoid rash, hematological abnormalities (e.g.

Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).

Background: Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammatory syndrome (FCAS)4, autoinflammatory infantile enterocolitis (AIFEC), NLRC4-macrophage associated syndrome (MAS), and neonatal-onset multisystem inflammatory disease (NOMID). The rarity and complexity of the disease necessitate the description of new cases and a reexamination of our understanding of the condition.

Acute Abdomen as a Clinical Presentation of COVID-19-Associated Multisystem Inflammatory Syndrome in Children.

Background: On December 2019, a novel coronavirus disease (COVID-19) spread worldwide and became a pandemic. Multisystem inflammatory syndrome in children (MIS-C) due to cytokine release syndrome following COVID-19 presents with various manifestations. We hypothesize that one of the rare manifestations is acute abdomen.

Exploring the association between serum Vitamin D levels and the development of coronary artery lesions in Kawasaki disease - a systematic review.

Background: Kawasaki Disease (KD) involves arterial inflammation, primarily affecting the coronary arteries and leading to coronary artery lesions. Recent advancements in understanding the immunomodulatory roles of vitamin D have prompted investigations into the potential correlation between serum vitamin D levels and the risk of coronary artery lesions (CAL) in KD. This review aims to explore this association.

Evaluation of Bone Mineral Density in Juvenile Systemic Lupus Erythematosus.

Objectives: The present study aimed to determine the prevalence of low bone mineral density (BMD) and low bone mineral content (BMC) as chronic complications of juvenile systemic lupus erythematosus (JSLE) and identify the associated variables and patient characteristics to investigate the relationship between BMD and influential factors.

Methods: This cross-sectional study enrolled 54 patients with JSLE, including 38 females and 16 males. The BMD and BMC were assessed by dual-energy X-ray absorptiometry in the hip (femoral neck) and the lumbar spine.

Giant Coronary Aneurysms with Multiple Large Resistant Thromboses in an 8-Month-Old Boy with IVIg-Resistant Kawasaki Disease: A Case Report.

Kawasaki disease is an acute self-limiting systemic vasculitis in childhood, resulting in arterial swelling or inflammation and eventually leading to cardiovascular problems, such as coronary artery aneurysms. Based on previous studies, serum sodium ≤133 mmol/L, albumin ≤3.2 g/dL, alanine transaminase ≥80 U/L, and neutrophil percentage ≥80% at diagnosis are risk factors for intravenous immunoglobulin (IVIg).

Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.

Background: Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications. The presentations can resemble hemophagocytic lymphohistiocytosis, the life threatening hyperinflammatory disorder.

Multisystem inflammatory syndrome in children and Kawasaki disease; comparison of their clinical findings and one-year follow-up-a cross-sectional study.

Background: Studies on Multisystem Inflammatory Syndrome in Children (MIS-C) and Kawasaki Disease (KD) have yielded inconsistent results and are lacking in Asian and African countries. This study aimed to compare the laboratory and clinical features, short-term outcomes, and one-year follow-ups of a large cohort of MIS-C and KD patients.

Methods: Data from 176 MIS-C and 56 KD patients admitted to Tehran Children's Medical Center between January 2021 and January 2022 were collected.

[ Tc] Tc-MDP bone SPECT/CT diagnosing unstable slipped capital femoral epiphysis with secondary AVN in a patient with misleading knee pain.

Bone scan is highly sensitive whole-body imaging with relative low radiation in patients with non-localized skeletal symptoms. Patient is 12-year-old boy with Down syndrome, suffering recent claudication and exacerbated left knee pain unable to walk even with crutches. Three-dimensional Single photon emission computed tomography/Computed tomography (SPECT/CT) detected left slipped capital femoral epiphysis (SCFE) and secondary Avascular necrosis (AVN).

A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.

Background: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can categorize most of the signs and symptoms of DADA2 into the three groups of vasculitis, hematologic abnormalities, and immunologic dysregulations.

Study of NLRP3 Single Nucleotide Polymorphisms in Juvenile Systemic Lupus Erythematosus (JSLE).

Juvenile systemic lupus erythematosus (JSLE) is a multifaceted multifactorial disorder with an unclear etiopathogenesis. Environmental factors, genetic factors, and dysregulated and defective immune system responses are known to have a role in JSLE etiopathogenesis. NLRP3 inflammasome, as an important contributor to immune-mediated inflammatory responses, is assumed to be involved in JSLE etiopathogenesis.

The role of nailfold capillaroscopy in pediatric patients with Kawasaki disease.

Background: Nailfold capillaroscopy has been used as a non-invasive diagnostic method for microvasculature evaluation in various rheumatological disorders. The present study aimed to determine the utility of nailfold capillaroscopy in the diagnosis of Kawasaki Disease (KD).

Method: In this case-control study nailfold capillaroscopy was performed in 31 patients with KD and 30 healthy controls.

Methylprednisolone pulses as an initial treatment in hyperinflammatory syndrome after COVID-19 in children: evaluation of laboratory data, serial echocardiography and outcome: a case series.

Background: Hyper-inflammatory syndrome in children and young adult occur 2-6 weeks after COVID-19 infection or closed contact with COVID-19 persons. In this study, the laboratory data and echocardiography and abdominal ultrasonography assessments were evaluated before and after Methylprednisolone pulse as an initial treatment of hyper-inflammatory syndrome. Therefore, the aim of this study is to assessment the clinical manifestations and laboratory data and outcome after methylprednisolone pulse as an initial treatment.

Bilateral expansion of mandible and maxillae in a 5-year-old girl.

A 5-year-old girl with symmetrical expansion of mandible and both maxillae, lack of eruption of several teeth an hypertrophied palate was presented to our clinic. upon detailed laboratory, imaging and histopathological evaluation, the diagnosis of "Cherubism" a rare autoinflammatory bone disease was confirmed.

Musculoskeletal pain in children, should we think about neuroblastoma?

A 9-year-old girl with progressive right leg pain, distributed to the pelvis and lower spine, diminished muscle force, and tendon reflex, was worked up thoroughly. Thoracolumbar MRI showed a well-circumscribed homogenous enhanced extradural mass from L3-L4 to S1. After surgery, a firm extradural mass was resected, and the pathologic finding was a neuroblastoma.

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

Background: A20 haploinsufficiency (HA20) is a newly introduced autosomal dominant autoinflammatory disorder, also known as Behcet's-like disease. Some of the most common symptoms of the disease are recurrent oral, genital, and/or gastrointestinal (GI) ulcers, episodic fever, musculoskeletal symptoms, cutaneous lesions, and recurrent infections. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of multi-organ failure due to excessive immune activation.

Colchicine versus cimetidine: the better choice for Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome prophylaxis, and the role of MEFV gene mutations.

Background: During childhood, the most common periodic fever is periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. The effective treatment and prevention of febrile attacks improve these patients' and their families' quality of life. However, there is no single strategy or evidence-based guideline to manage this syndrome, and most of them are based on consensus treatment plans.

Intravenous Methylprednisolone Pulse Therapy Versus Intravenous Immunoglobulin in the Prevention of Coronary Artery Disease in Children with Kawasaki Disease: A Randomized Controlled Trial.

Background: Kawasaki disease (KD) is often complicated by coronary artery lesion (CAL), including dilatation or aneurysms. Intravenous immunoglobulin (IVIG) is used with aspirin to prevent CAL in KD.

Objective: Given that the primary treatment for other vasculitis is the use of corticosteroids, this study has been performed to evaluate the effect of intravenous methylprednisolone pulse (IVMP) therapy in preventing CAL in KD.

The Efficacy of Anti-Tumor Necrosis Factor Therapy in Cryopyrin-Associated Periodic Syndromes: A Report of Two Cases.

Background: Cryopyrin-associated periodic syndromes (CAPSs) are a group of autoinflammatory disorders caused by a mutation in the NLRP3 gene. NLRP3 mutations increase inflammasome activation; therefore, IL-1 targeted therapies are frequently used in the aforementioned disorders. .