OBJECTIVES: To study the clinical characteristics of pediatric Behçet syndrome (BS). METHODS: A retrospective review was conducted on the medical records of children hospitalized in the Department of Pediatrics at the Second Hospital of Hebei Medical University between December 2014 and December 2024 who met diagnostic criteria for BS. RESULTS: Among 45 children with BS, 26 (58%) were male. Oral aphthous ulcers were the most common manifestation (43/45, 96%), followed by genital ulcers (23/45, 51%) and gastrointestinal involvement (18/45, 40%). Genital ulcers were more frequent in girls, whereas ocular involvement was more common in boys (P<0.05). The pathergy test was positive in 10 (22%), and HLA-B51 was positive in 13 (29%). Fecal calprotectin (FC) was elevated in 16 (36%); gastrointestinal involvement was more frequent in children with elevated FC than in those with normal FC (P<0.05). According to the respective criteria, 17 (38%) patients met the International Study Group criteria (1990), 33 (73%) met the International Criteria for Behçet Disease (2014), and 13 (29%) met the Pediatric Behçet Disease criteria (2015). CONCLUSIONS Pediatric BS shows marked clinical heterogeneity. HLA-B51 is associated with disease susceptibility.
Humans ; Behcet Syndrome/genetics* ; Male ; Female ; Child ; Retrospective Studies ; Adolescent ; Child, Preschool ; Leukocyte L1 Antigen Complex/analysis* ; HLA-B51 Antigen

Myelodysplastic syndromes (MDS) are clonal hematopoietic neoplasms characterized by chronic cytopenias and abnormal cell morphology, with a propensity of progressing to bone marrow failure or acute myeloid leukemia. Behçet's syndrome is a systemic vasculitis characterized by recurrent oral ulcers, skin lesions, and ocular inflammation. In recent years, an increasing number of clinical cases with coexistence of MDS and Behçet's syndrome have been reported, suggesting a potential pathological relationship between these conditions. Abnormal immune cell activation, dysregulated cytokine secretion, and cytogenetic alterations are thought to play critical roles in the pathogenesis of MDS combined with Behçet's syndrome. Currently, treatment strategies for MDS combined with Behçet's syndrome are primarily individualized and include immunosuppressive therapy, cytotoxic drug therapy, targeted therapy, and hematopoietic stem cell transplantation. However, due to the limited number of case reports and insufficient research on the underlying mechanisms, selecting appropriate treatment options remains challenging. This article reviews the pathogenesis and interrelationships of MDS combined with Behçet's syndrome and summarizes recent advancements in treatment strategies, providing a reference for clinical management and further researches on related mechanisms.
Humans ; Behcet Syndrome/pathology* ; Myelodysplastic Syndromes/pathology* ; Disease Progression

OBJECTIVE: To investigate the distribution and clinical significance of antiphospholipid antibody (aPL) in patients with Behcet disease (BD). METHODS: A total of 222 BD patients admitted to the Department of Rheumatology and Immunology in Peking University People' s Hospital from February 2008 to July 2024 were selected retrospectively. General data of the patients including age and gender were collec-ted. Clinical manifestations (including oral ulcers, genital ulcers, and thrombosis) and laboratory indexes (including aPL, human leukocyte antigen-B51, and anti-endothelial cell antibody) were collec-ted. The recurrence of thrombosis in the BD patients with thrombosis was followed up. Chi-square test was used to compare the clinical symptoms and laboratory indicators between aPL positive group and aPL negative group. Log-rank test was used to compare the recurrence rates of the aPL positive group and the aPL negative group, and P correction was performed by Two-stage method. Finally, Graphpad prism was used for plotting. RESULTS: The prevalence of single aPL, double aPL and triple aPL positivity in the BD patients were 22.1%, 0.5% and 1.4%, respectively. The positive rates of anti-cardiolipin antibody, anti-β2 glycoprotein Ⅰ antibody and lupus anticoagulant (LAC) were 10.4%, 1.8% and 13.1%, respectively. The incidence of thrombosis in the aPL positive group was significantly higher than that in the aPL negative group (44.9% vs. 16.9%, P < 0.001). The erythrocyte sedimentation rate [(20.78±4.91) mm/h vs. (15.85±4.29) mm/h, P=0.005], C-reactive protein [(12.97±5.17) mg/L vs. (7.49± 4.22) mg/L, P=0.010] and IgM [(1.55±0.95) g/L vs. (1.12±0.72) g/L, P < 0.001] in the aPL positive group were significantly higher than those in the aPL negative group. LAC positivity was an independent risk factor for thrombosis in the BD patients (OR=8.51, 95%CI: 2.71-26.72, P < 0.001). The recurrence rate of the aPL positive group was higher than that of the aPL negative group, but there was no statistical difference (69.23% vs. 52.17%, P=0.932). CONCLUSION Positive LAC and aneurysm are independent risk factors for thrombosis in BD patients. At the same time, positive antiphospholipid antibody can also significantly increase the risk of thrombosis in BD patients, which has important significance for guiding the treatment of BD.
Humans ; Behcet Syndrome/blood* ; Antibodies, Antiphospholipid/blood* ; Thrombosis/immunology* ; Male ; Female ; Retrospective Studies ; Adult ; Recurrence ; Antibodies, Anticardiolipin/blood* ; Clinical Relevance

Objective: To summarize the clinical characteristics of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) in children. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 10 children with TRAPS from May 2011 to May 2021 in 6 hospitals in China were retrospectively analyzed. Results: Among the 10 patients with TRAPS, including 8 boys and 2 girls. The age of onset was 2 (1, 5) years, the age of diagnosis was (8±4) years, and the time from onset to diagnosis was 3 (1, 7) years. A total of 7 types of TNFRSF1A gene variants were detected, including 5 paternal variations, 1 maternal variation and 4 de novo variations. Six children had a family history of related diseases. Clinical manifestations included recurrent fever in 10 cases, rash in 4 cases, abdominal pain in 6 cases, joint involvement in 6 cases, periorbital edema in 1 case, and myalgia in 4 cases. Two patients had hematological system involvement. The erythrocyte sedimentation rate and C-reactive protein were significantly increased in 10 cases. All patients were negative for autoantibodies. In the course of treatment, 5 cases were treated with glucocorticoids, 7 cases with immunosuppressants, and 7 cases with biological agents. Conclusions: TRAPS is clinically characterized by recurrent fever accompanied by joint, gastrointestinal, skin, and muscle involvement. Inflammatory markers are elevated, and autoantibodies are mostly negative. Treatment mainly involves glucocorticoids, immunosuppressants, and biological agents.
Male ; Child ; Female ; Humans ; Child, Preschool ; Receptors, Tumor Necrosis Factor, Type I/genetics* ; Retrospective Studies ; Hereditary Autoinflammatory Diseases/drug therapy* ; Glucocorticoids/therapeutic use* ; Biological Factors/therapeutic use* ; Immunosuppressive Agents/therapeutic use* ; Autoantibodies ; Familial Mediterranean Fever/diagnosis* ; Mutation

Humans ; Ulcer ; Intestinal Diseases ; Myelodysplastic Syndromes/genetics* ; Trisomy/genetics* ; Behcet Syndrome

Objective: To retrospectively investigate the clinical data, radiological characteristics, treatment, and outcome of patients with parenchymal neuro-Behcet's disease (P-NBD) with particular emphasis on dizziness. Methods: This was a cross-sectional study of clinical data from 25 patients with a confirmed diagnosis of P-NBD who were admitted to the Department of Neurology of the First Medical Center of Chinese People's Liberation Army General Hospital between 2010 and 2022. The median age of the population was 37 years (range: 17-85 years). Clinical data were retrospectively analyzed, including gender, age of onset, disease duration, clinical manifestations, serum immune indicators, cerebrospinal fluid (CSF) routine biochemical and cytokine levels, cranial and spinal magnetic resonance imaging (MRI) findings, treatment, and outcome. Results: The majority of patients were male (16 cases; 64.0%), the mean age of onset was (28±14) (range: 4-58 years), and the disease course was acute or subacute. Fever was the most common clinical presentation, and the complaint of dizziness was not uncommon (8/25 patients). Analysis of serum immune indices, including complement (C3 and C4), erythrocyte sedimentation rate, interleukin-1 (IL-1), IL-6, IL-8 and tumor necrotic factor-alpha were abnormal in 80.0% of patients (20/25). Most of the 16/25 patients who underwent lumbar puncture tests had normal intracranial pressure and increased CSF white cell count and protein [median values were 44 (15-380) ×10⁶/L and 0.73 (0.49-2.81) g/L, respectively]. Of the five patients who underwent CSF cytokine tests, four patients had abnormal results; of these, an elevated level of IL-6 was most common, followed by IL-1 and IL-8. The most common site of involvement in cranial MRI was the brainstem and basal ganglia (60.0% respectively), followed by white matter (48.0%) and the cortex (44.0%). Nine cases (36.0%) showed lesions with enhancement and six cases (24.0%) showed mass-like lesions. Three patients (12.0%) patients had lesions in the spinal cord, most frequently in the thoracic cord. All patients received immunological intervention therapy; during follow up, the majority had a favorable outcome. Conclusions: P-NBD is an autoimmune disease with multiple system involvement and diverse clinical manifestations. The symptom of dizziness is not uncommon and can be easily ignored. Early treatment with immunotherapy is important and can improve the outcome of these patients.
Humans ; Male ; Female ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Behcet Syndrome/diagnosis* ; Interleukin-6 ; Retrospective Studies ; Cross-Sectional Studies ; Interleukin-8 ; Magnetic Resonance Imaging ; Neurology

Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.
Child ; Familial Mediterranean Fever ; Female ; Fever/etiology* ; Genotype ; Hereditary Autoinflammatory Diseases ; Humans ; Male ; Retrospective Studies

Humans ; Autoimmune Diseases ; Hereditary Autoinflammatory Diseases

Behçet's disease (BD) is a systemic vasculitis characterized by recurrent acute vascular inflammation. There is currently limited epidemiological data in Southeast Asia. We discuss a 26-year-old woman who came to our institution for recurrent vulvar abscesses for a year. Physical examination showed labial, tongue, and vulvar ulcers. Pathergy test was negative and biopsy done were unremarkable . We diagnosed her clinically as a case of Behçet’s disease. We started her on colchicine 0.6 mg once daily and educated her on skin, oral, and perineal hygiene. On follow-up after one month, she noted resolution of her lesions. However, symptoms recurred in the last three months after discontinuing treatment. We used telemedicine to communicate due to the COVID-19 pandemic and lockdown, advising her to continue her medication. Timely diagnosis is essential in order to provide symptomatic relief and enhance patient education.
Behcet Syndrome ; Ulcer ; Vasculitis

Humans ; Heart Ventricles ; Behcet Syndrome/complications* ; Heart ; Heart Diseases ; Ventricular Dysfunction, Left