Familial Mediterranean Fever in Childhood.

Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disorder, characterized by recurrent fever and serositis. It primarily affects individuals of Mediterranean descent, including Arabs, Armenians, Turks, and Jews. The Mediterranean fever (MEFV) gene, responsible for FMF, was discovered in 1997.

Exploring gastrointestinal manifestations in childhood onset systemic lupus erythematosus - Insights from a multicenter study.

Objective: Systemic lupus erythematosus (SLE) constitutes an autoimmune disorder with potential involvement of the gastrointestinal system (GIS). Our objective was to assess the gastrointestinal (GI) manifestations in patients diagnosed with childhood onset SLE.

Methods: The study cohort consisted of 123 patients with childhood onset-SLE and GIS involvement from 16 referral departments of pediatric rheumatology.

Severe haematological involvement in children with systemic lupus erythematosus and clinical associations.

Objectives: To investigate the severe haematological involvement in children with SLE and assess its clinical associations, treatments, outcome and damage accrual.

Methods: The medical charts of children with SLE in whom haematological involvement was observed were reviewed. Severe haematological indices were defined as autoimmune haemolytic anaemia with a haemoglobin concentration < 8 g/dL, thrombocyte count < 30 000/µL, and neutrophil count < 500/µL.

Evaluation of pediatric rheumatologists' approach to rituximab use: a questionnaire study.

Unlabelled: Rituximab (RTX) is a chimeric monoclonal antibody that targets the CD20 antigen on B cells and is used in various autoimmune disorders. In this study, we aimed to measure the awareness of pediatric rheumatologists about the use of RTX through a survey. Between February and March 2023, a 42-question survey was sent via email to pediatric rheumatology specialists in Turkey.

Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Objectives: This study aims to investigate a genetic panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and examine its performance for an accurate differential diagnosis.

Patients And Methods: Between January 2021 and January 2022, a total of 104 children with PFAPA syndrome (63 males, 41 females; mean age: 4.8±2.

Utility of renal resistive index measurement in juvenile systemic lupus erythematosus: a cross-sectional single-center study.

Introduction: Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease with a complex etiopathogenesis. Renal involvement is the most common and devastating complication of the disease. Renal resistive index (RRI) was suggested as a noninvasive biomarker for lupus nephritis in previous studies.

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in immunodeficiency and anemia in various degrees, accompanied by several organ involvement.

Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series.

Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic inflammatory disease, caused by mutations in ADA2 gene, which encodes an extracellular enzyme acting as a monocyte differentiation factor. DADA2 is first described with the clinical picture resembling polyarteritis nodosa, including livedo racemose, recurrent fever, musculoskeletal complaints. Besides, some patients have cytopenia, lymphoproliferation and mild to moderate immunodeficiency.

Evaluation of subclinical ocular involvement in patients with deficiency of adenosine deaminase 2 (DADA2).

Purpose: To evaluate changes in the peripapillary, macular, and choroidal microvasculature in the eyes of patients with deficiency of adenosine deaminase 2 (DADA2) and no clinical signs of ocular involvement.

Methods: The study included 12 eyes of 12 patients with DADA2 and 24 eyes of 24 healthy subjects. The foveal avascular zone (FAZ), macular vessel densities (VDs) in the superficial and deep retinal capillary plexuses, peripapillary VDs, and choroidal thickness were evaluated by optical coherence tomography angiography (OCTA).

Serum vitamin B12 and D levels in children with Primary Raynaud Phenomenon: a retrospective cohort study.

Primary Raynaud phenomenon (RP) is resultant from transient vasospasm of peripheral arteries and arterioles, is usually precipitated by cold exposure or emotional stress, without any clue for autoimmune connective tissue diseases. We aimed to determine the frequency of vitamin D and B12 deficiencies in pediatric patients with primary RP, and to investigate their roles on the disease course. Vitamin B12 and D were supplemented if the patients had deficiencies.

Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria.

Objectives: In this study, we aimed to investigate the performance of Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) classification criteria in pediatric patients with familial Mediterranean fever (FMF).

Patients And Methods: This retrospective, cross-sectional study included a total of 130 pediatric FMF patients (67 males, 63 females; mean age: 12.4±3.

Cold-induced Vascular Changes in the Macula, Optic Disc and Choroid in Children with Raynaud's Phenomena.

Aim: To investigate changes in retinal and choroidal vessels in children with primary and secondary raynaud's phenomena(RP).

Methods: Measurements were performed by optic coherence tomography angiography before as well as during and 10 minutes after the immersion of one hand in ice water.

Results: Primary RP patients exhibited enlargement of the foveal avascular region and decrease in vessel density in the parafoveal superficial capillary plexus (SCP) during cold exposure, but values returned to normal when the hands were removed from the cold water.

Serum lubricin levels in patients with juvenile idiopathic arthritis.

Objectives: Lubricin, encoded by the proteoglycan 4 () gene, is mainly responsible for lubricating joints. However, there is expanding evidence on its involvement in inflammatory pathways. Juvenile idiopathic arthritis (JIA) is a heterogeneous group of chronic arthritides with an unknown origin in children aged below 16 years.

Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease and usually involves the skin, musculoskeletal system, and kidneys. More than 30 genes have been to monogenic lupus, so far. Monogenic lupus is often characterized by an early-onset, similar family history, and syndromic appearance.

Clinical features of childhood uveitis at a tertiary referral center in Southern Turkey.

Purpose: To report the epidemiology, etiology, ocular characteristics, management, and visual outcomes of pediatric uveitis patients in Southern Turkey.

Methods: The clinical records of pediatric patients with a diagnosis of uveitis under the age of 16 years and followed up longer than 6 months were analyzed retrospectively.

Results: The study included 102 patients and 173 affected eyes.

Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series.

Three prime repair exonuclease 1 () degrades single- and double-stranded DNA with 3'-5' exonuclease activity. mutations are related to type 1 interferon-mediated autoinflammation owing to accumulated intracellular nucleic acids. Several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome (AGS), familial chilblain lupus (FCL), and retinal vasculopathy-cerebral leukodystrophy caused by mutations have been reported, so far.

Retrospective Analysis of the Factors Affecting Growth Parameters in Turkish Children With Systemic Lupus Erythematosus.

Objectives: This study aims to investigate the growth parameters in Turkish children with systemic lupus erythematosus (SLE) and to compare these growth parameters according to the presence or absence of cyclophosphamide, rituximab treatment, cumulative corticosteroid dose, proliferative nephritis, and the last visit disease activity and damage index.

Patients And Methods: Medical data, growth parameters including z-scores for weight, height, and body mass index and parent-adjusted height z-scores of 45 juvenile SLE (jSLE) patients (5 males, 40 females; mean age 12.3±3.

Evaluation of different classification criteria in children with Behcet disease: results from a single referral center.

Objectives: Behcet Disease (BD) is a systemic vasculitis, first described with a triad of oral aphthous ulcers, genital ulcers, and uveitis. The authors aimed to share the clinical properties and utilities of three distinct classification criteria for BD in this study.

Methods: This case-control study was conducted in pediatric BD patients, diagnosed between January 2012 and July 2019.

Pre-Pulseless Takayasu Arteritis in a Child Represented With Prolonged Fever of Unknown Origin and Successful Management With Concomitant Mycophenolate Mofetil and Infliximab.

Takayasu arteritis (TA) is classified as a large vessel vasculitis of predominantly aorta and its main branches, resulting in fibrosis and stenosis. Only a minority of TA patients are diagnosed in pre-stenosis phase when constitutional symptoms including fever, arthralgia, weight loss, headache, abdominal pain, and elevated acute phase reactants are dominant insidious characteristics. In this article, we present a 12-year-old female patient, who was referred to our department with a one-year history of low-grade fever, fatigue, and myalgia.

Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.

Objective: To evaluate the effect of canakinumab on growth parameters of patients with autoinflammatory diseases.

Methods: This retrospective study included Colchicine resistant familial Mediterranean fever (FMF), Mevalonate kinase deficiency (MKD), Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), Deficiency of adenosine deaminase 2 (DADA2) patients treated with canakinumab for at least six consecutive months.

Results: Eleven patients with FMF, 9 with MKD, 3 with TRAPS, and 1 with DADA2 were included.