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Immunity, Inflammation and Disease Apr 2024Ankylosing spondylitis (AS) and Behçet's disease (BD) are distinct inflammatory disorders, but their coexistence is a rare clinical entity. This case sheds light on...
BACKGROUND
Ankylosing spondylitis (AS) and Behçet's disease (BD) are distinct inflammatory disorders, but their coexistence is a rare clinical entity. This case sheds light on managing this complex scenario with Janus kinase (JAK) inhibitors.
CASE PRESENTATION
A 42-year-old woman presented with a decade-long history of lower back pain, nocturnal spinal discomfort, recurrent eye issues, oral and genital ulcers, hearing loss, pus formation in the left eye, and abdominal pain. Multidisciplinary consultations and diagnostic tests confirmed AS (HLA-B27 positivity and sacroiliitis) and BD (HLA-B51). Elevated acute-phase markers were observed.
CONCLUSION
This case fulfills diagnostic criteria for both AS and BD, emphasizing their coexistence. Notably, treatment with upadacitinib exhibited promising efficacy, underscoring its potential as a therapeutic option in patients with contraindications for conventional treatments. Our findings illuminate the intricate management of patients presenting with these two diverse systemic conditions and advocate for further exploration of JAK inhibitors in similar cases.
Topics: Female; Humans; Adult; Spondylitis, Ankylosing; Behcet Syndrome; Heterocyclic Compounds, 3-Ring; HLA-B51 Antigen
PubMed: 38578007
DOI: 10.1002/iid3.1242 -
BMC Pulmonary Medicine Apr 2024In recent years, the emergence of immunotherapy has renewed therapeutic modality. Different from traditional anti-tumor therapy, immune-related adverse events of skin,...
BACKGROUND
In recent years, the emergence of immunotherapy has renewed therapeutic modality. Different from traditional anti-tumor therapy, immune-related adverse events of skin, gastrointestinal tract, liver, lung, endocrine glands commonly occurred. At present, only one case of immune-related adverse event of Behcet's-like syndrome following pembrolizumab treatment was reported in USA, and no one is reported in China.
CASE PRESENTATION
Here, we report a rare case of Behcet's-like symptom following pembrolizumab treatment. A 43-year-old female was diagnosed as lymph node and bone metastasis of adenocarcinoma with unknown primary lesion, probably being of pulmonary origin. She was treated with pembrolizumab 200 mg every three weeks in combination with chemotherapy for 6 cycles, followed by pembrolizumab monotherapy maintenance. However, she developed Behcet's-like syndrome with oral ulcer, genital uler, phlebitis, and vision loss after 9 cycles of pembrolizumab treatment. She was treated with prednisone 5 mg orally three times a day. Two weeks later, dose of glucocorticoid gaven to the patient gradually decreased with improved symptoms. After a treatment-free withdrawal period, the patient requested to continue pembrolizumab treatment. Unfortunately, the above symptoms recurred on the second day following pembrolizumab treatment, and glucocorticoid was taken once again. The symptoms improved and the condition was under control.
CONCLUSIONS
In view of the exponential growth of immunocheckpoint inhibitors (ICIs) in a variety of tumors, we should be alert to related adverse events, especially the rare rheumatic manifestations.
Topics: Female; Humans; Adult; Glucocorticoids; Neoplasm Recurrence, Local; Antibodies, Monoclonal, Humanized; Behcet Syndrome
PubMed: 38575924
DOI: 10.1186/s12890-024-02986-y -
Scientific Reports Apr 2024Behçet's disease (BD) manifests as an autoimmune disorder featuring recurrent ulcers and multi-organ involvement, influenced by genetic factors associated with both HLA...
Behçet's disease (BD) manifests as an autoimmune disorder featuring recurrent ulcers and multi-organ involvement, influenced by genetic factors associated with both HLA and non-HLA genes, including TNF-α and ERAP1. The study investigated the susceptible alleles of both Class I and II molecules of the HLA gene in 56 Thai BD patients and 192 healthy controls through next-generation sequencing using a PacBio kit. The study assessed 56 BD patients, primarily females (58.9%), revealing diverse manifestations including ocular (41.1%), vascular (35.7%), skin (55.4%), CNS (5.4%), and GI system (10.7%) involvement. This study found associations between BD and HLA-A*26:01:01 (OR 3.285, 95% CI 1.135-9.504, P-value 0.028), HLA-B*39:01:01 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-B*51:01:01 (OR 3.033, 95% CI 1.135-8.103, P-value 0.027), HLA-B*51:01:02 (OR 6.176, 95% CI 1.428-26.712, P-value 0.015), HLA-C*14:02:01 (OR 3.485, 95% CI 1.339-9.065, P-value 0.01), HLA-DRB1*14:54:01 (OR 1.924, 95% CI 1.051-3.522, P-value 0.034), and HLA-DQB1*05:03:01 (OR 3.00, 95% CI 1.323-6.798, P-value 0.008). However, after Bonferroni correction none of these alleles were found to be associated with BD. In haplotype analysis, we found a strong linkage disequilibrium in HLA-B*51:01:01, HLA-C*14:02:01 (P-value 0.0, Pc-value 0.02). Regarding the phenotype, a significant association was found between HLA-DRB1*14:54:01 (OR 11.67, 95% CI 2.86-47.57, P-value 0.001) and BD with ocular involvement, apart from this, no distinct phenotype-HLA association was documented. In summary, our study identifies specific HLA associations in BD. Although limited by a small sample size, we acknowledge the need for further investigation into HLA relationships with CNS, GI, and neurological phenotypes in the Thai population.
Topics: Female; Humans; Behcet Syndrome; HLA-DRB1 Chains; High-Throughput Nucleotide Sequencing; HLA-C Antigens; Thailand; HLA-B Antigens; Alleles; Technology; Genetic Predisposition to Disease; Aminopeptidases; Minor Histocompatibility Antigens
PubMed: 38575661
DOI: 10.1038/s41598-024-58254-w -
Frontiers in Immunology 2024Interleukin-27 (IL-27) is a member of the IL-12 family. The gene encoding IL-27 is located at chromosome 16p11. IL-27 is considered as a heterodimeric cytokine, which... (Review)
Review
Interleukin-27 (IL-27) is a member of the IL-12 family. The gene encoding IL-27 is located at chromosome 16p11. IL-27 is considered as a heterodimeric cytokine, which consists of Epstein-Barr virus (EBV)-induced gene 3 (Ebi3) and IL-27p28. Based on the function of IL-27, it binds to receptor IL-27rα or gp130 and then regulates downstream cascade. To date, findings show that the expression of IL-27 is abnormal in different inflammatory autoimmune diseases (including systemic lupus erythematosus, rheumatoid arthritis, Sjogren syndrome, Behcet's disease, inflammatory bowel disease, multiple sclerosis, systemic sclerosis, type 1 diabetes, Vogt-Koyanagi-Harada, and ankylosing spondylitis). Moreover, and studies demonstrated that IL-27 is significantly in3volved in the development of these diseases by regulating innate and adaptive immune responses, playing either an anti-inflammatory or a pro-inflammatory role. In this review, we comprehensively summarized information about IL-27 and autoimmunity based on available evidence. It is hoped that targeting IL-27 will hold great promise in the treatment of inflammatory autoimmune disorders in the future.
Topics: Humans; Interleukin-27; Epstein-Barr Virus Infections; Herpesvirus 4, Human; Autoimmune Diseases; Autoimmunity
PubMed: 38566992
DOI: 10.3389/fimmu.2024.1366377 -
Seminars in Arthritis and Rheumatism Jun 2024VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement....
VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS patients. The objective of this study is to further describe orbital/ocular conditions in VEXAS syndrome while investigating potential associations with other disease manifestations. In the present study, twenty-seven out of 59 (45.8 %) VEXAS patients showed an inflammatory orbital/ocular involvement during their clinical history. The most frequent orbital/ocular affections were represented by periorbital edema in 8 (13.6 %) cases, episcleritis in 5 (8.5 %) patients, scleritis in 5 (8.5 %) cases, uveitis in 4 (6.8 %) cases, conjunctivitis in 4 (6.8 %) cases, blepharitis in 3 (5.1 %) cases, orbital myositis in 2 (3.4 %) cases. A diagnosis of systemic immune-mediated disease was observed in 15 (55.6 %) cases, with relapsing polychondritis diagnosed in 12 patients. A significant association was observed between relapsing polychondritis and orbital/ocular involvement in VEXAS syndrome (Relative Risk: 2.37, 95 % C.I. 1.03-5.46, p = 0.048). Six deaths were observed in the whole cohort of patients after a median disease duration of 1.2 (IQR=5.35) years, 5 (83.3 %) of which showed orbital/ocular inflammatory involvement. In conclusion, this study confirms that orbital/ocular inflammatory involvement is a common finding in VEXAS patients, especially when relapsing polychondritis is diagnosed. This makes ophthalmologists a key figure in the diagnostic process of VEXAS syndrome. The high frequency of deaths observed in this study seems to suggest that patients with orbital/ocular involvement may require increased attention and more careful follow-up.
Topics: Humans; Male; Female; Adult; Registries; Middle Aged; Young Adult; Adolescent; Orbital Diseases; Hereditary Autoinflammatory Diseases; Eye Diseases; Child; Aged; Scleritis; Polychondritis, Relapsing
PubMed: 38554594
DOI: 10.1016/j.semarthrit.2024.152430 -
Aorta (Stamford, Conn.) Aug 2023Hughes-Stovin syndrome (HSS) is a rare potentially fatal vasculitis supposedly belonging to the spectrum of Behçet disease without ocular involvement. HSS tends to play...
Hughes-Stovin syndrome (HSS) is a rare potentially fatal vasculitis supposedly belonging to the spectrum of Behçet disease without ocular involvement. HSS tends to play by a temporal pattern, starting with thrombosis and followed by formation of pulmonary aneurysms. Since its mortality can reach 25% of cases, early recognition and appropriate therapy represent the major clinical challenges. We describe a rare case of HSS successfully treated via multidisciplinary management by an endovascular approach and immunosuppressive therapy.
PubMed: 38531384
DOI: 10.1055/s-0043-1777994 -
Cureus Feb 2024Behçet disease (BD) is a recurrent, multisystemic autoimmune vasculitis that affects both small and large vessels. A combination of neurological signs and...
Behçet disease (BD) is a recurrent, multisystemic autoimmune vasculitis that affects both small and large vessels. A combination of neurological signs and symptoms in BD is called neuro-Behçet syndrome (NBS). We present the case of a 31-year-old male diagnosed with chronic progressive NBS who presented with multiple relapsing episodes concurrent with infective endocarditis due to intravenous drug abuse, drug-induced hepatitis, acute kidney injury, and septic shock that is not related to BD. Neurological relapsing episodes were treated with steroids azathioprine and colchicine. At the same time, concurrent illnesses were managed appropriately. Infective endocarditis needed valve replacement surgery, and sepsis was treated with selected antibiotics. Fortunately, the patient's brain images and laboratory investigation improved accordingly. On average, patients with parenchymal neuro-Behçet syndrome (P-NBS) have a poor prognosis; within 10 years of diagnosis, 50% of those patients are severely disabled as our patient who became aphasic and quadriplegic.
PubMed: 38529465
DOI: 10.7759/cureus.54664 -
The Turkish Journal of Pediatrics 2024
Topics: Child; Humans; Patient Readmission; Post-Acute COVID-19 Syndrome; COVID-19; Hospitalization; Risk Factors
PubMed: 38523393
DOI: 10.24953/turkjped.2023.800 -
Medicine Mar 2024Pathergy test indicates nonspecific hyper-reactivity of the skin to aseptic trauma in Behçet syndrome (BS) and is considered as an adjunctive diagnostic test with a...
Pathergy test indicates nonspecific hyper-reactivity of the skin to aseptic trauma in Behçet syndrome (BS) and is considered as an adjunctive diagnostic test with a good specificity albeit with low sensitivity. We tested the hypothesis that a relationship exists between active clinical manifestations of BS and the pathergy-positivity when performed simultaneously. Pathergy test and detailed dermatologic examination were done in 105 BS patients (60M/45F); who were seen consecutively at the multi-disciplinary BS outpatient clinic in a single tertiary center. Information regarding demographic and clinical characteristics, pathergy test results at diagnosis, and details about treatment were obtained from patient charts. Disease activity was assessed using Behçet Disease Current Activity Form. Among 105 patients, 27 (25.7%) were pathergy-positive at the time of the study visit whereas 40.9% were pathergy-positive at the time of the diagnosis. There was no relation between pathergy test and patient age or disease duration, either. Pathergy-positivity was significantly more common in patients with folliculitis compared to those without folliculitis (40.7% vs 19.2%; P = .026). The test was also positive in all 3 patients with leg ulcers due to venous stasis. We found that among all skin-mucosa lesions only the presence of folliculitis was associated with pathergy positivity with statistical significance. It was also remarkable that the current pathergy was positive in all 3 patients with active leg ulcers but this finding warrants further studies because of the low patient numbers.
Topics: Humans; Behcet Syndrome; Skin; Skin Tests; Folliculitis; Leg Ulcer
PubMed: 38518008
DOI: 10.1097/MD.0000000000037553 -
Arthritis Research & Therapy Mar 2024Autoimmune responses have been suggested to involvement in patients with Behcet's syndrome (BS). There has been growing attention towards the roles of cutaneous...
BACKGROUND
Autoimmune responses have been suggested to involvement in patients with Behcet's syndrome (BS). There has been growing attention towards the roles of cutaneous lymphocyte antigen (CLA) regular T cells (Tregs) in autoimmune diseases. The role of CLA Tregs in BS is still uncertain. This study aims to clarify the impact of CLA Tregs on BS.
METHODS
We collected peripheral blood from a total of 107 patients with BS and 114 healthy controls (HCs). The number of CLA Tregs, natural killer (NK) cells, B cells, and several subtypes of CD4 T cells were detected using flow cytometry and compared between patients and HCs.
RESULTS
The absolute number and proportion of CLA Tregs among CD4 T lymphocytes and CD4 Tregs were lower in patients with BS than in HCs. CLA Tregs were positively related with NK cells (r = 0.500, P < 0.001) and B cells (r = 0.470, P < 0.001) and negatively related with effector T cells (r=-0.402, P < 0.001) in patients with BS. Patients with BS and arterial aneurysms had CLA Treg cell deficiency. A decreased proportion of CLA Tregs was associated with arterial aneurysms in patients with BS. The proportion of CLA Tregs in patients with BS increased with corticosteroids and immunosuppressants.
CONCLUSION
CLA Tregs decrease in association with arterial aneurysm in patients with BS. CLA Tregs may be a predictor of response to BS treatment.
Topics: Humans; Behcet Syndrome; Clinical Relevance; Oligosaccharides; T-Lymphocytes, Regulatory; Aneurysm; Sialyl Lewis X Antigen
PubMed: 38515127
DOI: 10.1186/s13075-024-03306-9