1.Multi-dimensional Holographic Characterization of Zhejiang Characteristic Atractylodis Macrocephalae Rhizoma with Nine-time Repeating Steaming and Processing
Xin WU ; Cuiwei CHEN ; Qiao YU ; Chao FENG ; Hongyan ZHANG ; Yan CHEN ; Caihua SUN ; Gang CAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(6):197-205
ObjectiveHistorically documented Zhejiang Atractylodis Macrocephalae Rhizoma(Baizhu) possesses premium characteristics such as phoenix-like head and crane-like neck, pronounced sweetness, and fragrant aroma. However, its current market circulation is low, and the processed products with Zhejiang-style characteristics are at the risk of being lost. This study aims to preserve the ancient Zhejiang-style processing techniques and evaluate them using modern scientific methods. MethodsMultidimensional intelligent sensory evaluation was used to digitally characterize the "quality-structure" of the external appearance of nine-steamed and nine-processed Baizhu medicinal materials(intermediate processed products) and the "odor-taste" of the internal quality of its decoction pieces(slices), and the appearance parameters were digitally characterized by colorimeter, texture analyzer, electronic nose and electronic tongue, the chemical composition was analyzed via ultra-performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS/MS). Then, cluster analysis on the differences in odor between the medicinal materials(intermediate processed products) and decoction pieces(slices) of nine-steamed and nine-processed Baizhu was conducted, as well as the differences in taste between water-soluble and alcohol-soluble extracts of the decoction pieces(slices), and the correlation analysis of chroma value-alcohol-soluble extract content-component response value. ResultsThe nine-steamed and nine-processed Baizhu had a dark brown to black epidermis, a brownish-yellow to brownish-gray cross-section, a slightly tough texture, a faint odor, and a slightly sweet, bitter and pungent taste. Texture analyzer measurements revealed minimal adhesion and maximum recovery in the middle section of the characteristic processed Baizhu, consistent with the processing endpoint of thorough steaming and cooking. The head section showed the highest internal hardness, elasticity and chewiness, indicating a denser texture in this area. The electronic nose sensor could clearly distinguish the difference between the medicinal materials and its decoction pieces, with a more significant clustering effect at 60 ℃ for 30 minutes compared to ambient temperature headspace for 2 hours, highlighting the significant impact of the baking degree before slicing on the quality. The electronic tongue taste signal map clearly distinguished the differences between water-soluble and alcohol-soluble extracts of nine-steamed and nine-processed Baizhu decoction pieces, and the addition of auxiliary materials during processing could enhance its alcohol-soluble extract content. A total of 82 chemical components were identified in the characteristic processed Baizhu. After processing, the contents of 58 components increased, while 24 components decreased. Correlation analysis revealed significant negative correlations(P<0.01) between ethanol-soluble extract content and colorimetric values of brightness(L*), yellow-bule value(b*), and total color difference(E*ab). E*ab showed marked negative correlations(P<0.05) with the response values of isochlorogenic acid A and C. ConclusionThis study establishes a modern intelligent sensory evaluation model for multidimensional holographic characterization of nine-steamed and nine-processed Baizhu, clarifying the correlation between increased isochlorogenic acid content and the visual color appearance after different steaming cycles, as well as its intrinsic alcohol-soluble extracts. This provides a reference for quality evaluation and processing standards of the Zhejiang-style characteristic processed products.
2.Role of endoplasmic reticulum stress-mediated DEAD-box helicase 3 X-linked in a mouse model of concanavalin A-induced immune-mediated liver injury
Zhenzhen PAN ; Ling XU ; Xianru ZHU ; Zihao FAN ; Yaling CAO ; Yinkang MO ; Sai YAN ; Feng REN
Journal of Clinical Hepatology 2026;42(1):134-142
ObjectiveTo investigate the role of DEAD-box helicase 3 X-linked (DDX3X) in immune-mediated liver injury (ILI), and to clarify its mechanism by regulating endoplasmic reticulum stress (ERS)-dependent apoptotic pathway and its association with the clinical progression of hepatitis B. MethodsMice were given injection of concanavalin A (ConA) via the caudal vein to establish a model of ILI, PBS (control group) and different concentrations of ConA were injected into the tail vein of hepatocyte-specific DDX3X-knockout mice (DDX3XΔHep and DDX3X-flox mice (DDX3Xfl/fl), respectively.. The log-rank survival analysis, measurement of the serum levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT), and HE staining of liver tissue were performed to assess liver injury, and qRT-PCR and Western Blot were used to measure the mRNA and protein expression levels of glucose-regulated protein 78 (GRP78), CCAAT/enhancer-binding protein homologous protein (CHOP), and DDX3X in liver tissue. Intraperitoneal injection of 4-phenylbutyric acid (4-PBA, 100 mg/kg) was performed to inhibit ERS. Serum samples (n=30) and liver tissue samples (n=6) were collected from healthy controls, chronic hepatitis B (CHB) patients, and hepatitis B virus-associated liver failure (HBV-LF) patients; ELISA was used to measure the serum level of DDX3X, and qRT-PCR/Western Blot was used to analyze the expression of targets in liver tissue. A one-way analysis of variance was used for comparison of continuous data between multiple groups, and the least significant difference t-test was used for further comparison between two groups. ResultsCompared with the control group of mice, the expression of DDX3X in the liver of mice induced by ConA was significantly increased after liver injury (P<0.05), and hepatocyte-specific DDX3X knockout increased the 72-hour survival rate of mice by 55% (compared with 20% in the DDX3Xfl/fl group), with significant reductions in the serum levels of ALT and AST (P<0.000 1) and the expression levels of the ERS markers GRP78 and CHOP (P<0.05). After ERS was inhibited by 4-PBA, there was alleviation of liver injury (with reductions in ALT and AST, P <0.001) and a reduction in DDX3X expression (P<0.01). The analysis of clinical samples showed that the mRNA and protein expression levels of liver DDX3X in CHB patients and HBV-LF patients were significantly higher than those in healthy controls (all P<0.01), and there was a significant increase in the serum level of DDX3X in HBV-LF patients (P<0.000 1). ConclusionDDX3X exacerbates ILI by regulating the ERS-dependent apoptotic pathway (GRP78/CHOP), and its expression is associated with the progression of hepatitis B. Therefore, it can be used as a potential therapeutic target.
3.Analysis of blood entry component of Yinchenhao decoction in vivo and study on the anti-hepatocellular carcinoma mechanism by network pharmacology
Linfeng ZHANG ; Yuheng SUN ; Dongyao WANG ; Dan LI ; Yan CAO ; Diya LYU
Journal of Pharmaceutical Practice and Service 2026;44(4):200-208
Objective To improve the analysis method of the blood components of Yinchenhao decoction (YCHD) in vivo and explore its anti-hepatocellular carcinoma mechanism. Methods Ultra-high performance liquid chromatography-quadrupole-time-of-flight mass spectrometry (UPLC-Q-TOF/MS) was used to collect and analyze blood samples from mice. The mice were given a single dose of YCHD with a concentration of 0.1 g/ml and a dose of 25 ml/kg, and then the samples were collected 2 h post–administration, which was to systematically study the chemical components of YCHD in vivo. Network pharmacological methods were used to screen the components and targets of YCHD, and the targets of hepatocellular carcinoma; The common targets of YCHD and hepatocellular carcinoma were identified for GO enrichment and KEGG enrichment. Molecular docking was performed on the main targets to verify the binding ability between the active ingredients and the core targets. The relative mRNA expression levels of serine/threonine-protein kinase(AKT1) and tumor protein p53(TP53) in liver tissues were analyzed via qPCR, including the following mouse groups: mice with concanavalin A(Con-A)-induced acute liver injury without preventive administration, mice with Con-A-induced acute liver injury that received 14 d preventive oral administration of YCHD, and untreated control mice. Results ①The active ingredients of YCHD in the blood were identified by retrieving the data from the in vitro component analysis. They were chrysophanol, herniarin, aloe-emodin, and monotropein. ②The mechanism of action of the blood components against hepatocellular carcinoma (HCC) was further analyzed using network pharmacological methods, and a total of 30 components of YCHD were screened for 213 targets and 215 HCC targets. ③There were 17 intersection targets between YCHD and hepatocellular carcinoma, including AKT1, TP53, receptor tyrosine-protein kinase erbB-2 (ERBB2), myelocytomatosis oncogene (MYC), interleukin-1β (IL-1β), etc. The GO enrichment results indicated that these components were primarily involved in DNA replication,chromosome segregation,leukocyte mediated immunity,leukocyte cell-cell adhesion. The KEGG enrichment results demonstrated that these components were predominantly associated with diverse cancer pathways. Additionally, the results indicated involvement in the citrate cycle (TCA cycle), pyruvate metabolism, and p53 signaling pathway, ect. ④The results of molecular docking showed that chrysophanol, herniarin, and aloe - emodin had strong binding abilities with AKT1, TP53, ERBB2, MYC, and IL-1β. ⑤The relative expression of AKT1 and TP53 mRNA was significantly higher in the modelling group than in the control group. The relative expression of AKT1 and TP53 mRNA was significantly lower in the drug administration group than in the modelling group. Conclusion There were 4 blood components in YCHD, among which chrysophanol, herniarin, and aloe-emodin may act on AKT1, TP53, ERBB2, MYC, IL-1β and then participated in the regulation of cancer signaling pathways and p53 signaling pathway to play a role in the treatment of HCC.
4.Analysis of Ancient and Modern Literature of Xiaoyaosan and Examination of Its Key Information
Zhe WANG ; Jialei CAO ; Lyuyuan LIANG ; Yiping WANG ; Chen CHEN ; Weixiao LI ; Bingqi WEI ; Yinli LI ; Yongbin YAN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(15):227-237
First recorded in an official medical book from the Northern Song Dynasty called Taiping Huimin Heji Ju Fang (Prescriptions of the Bureau of Taiping People's Welfare Pharmacy), Xiaoyaosan has been developed and refined over generations and is preserved to this day. It specializes in soothing the liver,resolving stagnation,fortifying the spleen,and nourishing blood. In this study,ancient traditional Chinese medicine (TCM) books and contemporary studies were reviewed to obtain information on Xiaoyaosan using bibliometrics,including its historical development,dosage,origin,processing methods,decoction dosage,and ancient and modern indications. Furthermore,a question regarding the presence of Zingiberis Rhizoma Recens and Menthae Haplocalycis Herba in Xiaoyaosan was investigated,and a table of key information on Xiaoyaosan was compiled,providing references for developing Xiaoyaosan preparations. According to the weight and measurement system of the Song dynasty,the contemporary equivalent formulation of the decocted Xiaoyaosan consists of 20.65 g of Glycyrrhizae Radix et Rhizoma and 41.3 g of Angelica Sinensis Radix,Poria,Paeoniae Radix Alba,Atractylodis Macrocephalae Rhizoma,and Bupleuri Radix. The formulation is processed to obtain a mixed powder with a particle size of 10 mesh. For each dose,8.25 g of the mixed powder is combined with 1 g of unprocessed Zingiberis Rhizoma Recens and 0.62 g of Menthae Haplocalycis Herba in 300 mL of water. The mixture is decocted until the volume reaches 210 mL,and the residue is then removed,with no specific timing required for administration. After the processing,each dose consists of approximately 0.75 g of Glycyrrhizae Radix et Rhizoma and 1.50 g of Radix Angelica Sinensis,Poria,Paeoniae Radix Alba,Atractylodis Macrocephalae Rhizoma,and Bupleuri Radix. Ancient medical literature shows that Xiaoyaosan primarily treats blood deficiency and overstrain,specifically for symptoms including heat caused by blood deficiency and fatigue,irregular menstruation,headache,eye soreness,pain in the ribs and limbs,and emaciation and bone steaming. In the Qing Dynasty,ZHANG Lu clearly proposed the pathogenesis of liver depression,and since then,the use of Xiaoyaosan in treating various syndromes associated with liver depression has been highly praised by physicians in the Qing dynasty and modern times. Xiaoyaosan has a wide application in modern clinical practices,involving digestive diseases,gynecological diseases,psychological diseases,nervous system diseases,and otorhinolaryngologic diseases. Moreover,it is most commonly used to treat depression and other diseases complicated with depression,hyperplasia of the mammary gland,etc. The key information on Xiaoyaosan and its clinical applications in ancient and modern times investigated in the study could serve as a scientific reference for in-depth research and extended clinical applications of the prescription.
5.Effect of Maxing Loushi Decoction on Inflammatory Factors, Immune Function, and PD-1/PD-L1 Signaling Pathway in Patients with Acute Exacerbation of Chronic Obstructive Pulmonary Disease with Phlegm Turbidity Obstructing Lung Syndrome
Yuexin SHI ; Zhi YAO ; Jun YAN ; Caijun WU ; Li LI ; Yuanzhen JIAN ; Guangming ZHENG ; Yanchen CAO ; Haifeng GUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):143-150
ObjectiveTo evaluate the clinical efficacy of Maxing Loushi decoction in the treatment of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) with phlegm turbidity obstructing lung syndrome, and to investigate its effects on inflammatory factors, immune function, and the programmed death-1(PD-1)/programmed death-ligand 1 (PD-L1) signaling pathway. MethodsA randomized controlled study was conducted, enrolling 90 hospitalized patients with AECOPD and phlegm turbidity obstructing lung syndrome in the Respiratory and Emergency Departments of Dongzhimen Hospital, Beijing University of Chinese Medicine, from April 2024 to December 2024. Patients were randomly assigned to a control group and an observation group using a random number table, with 45 patients in each group. The control group received conventional Western medical treatment, while the observation group received additional Maxing Loushi decoction for 14 days. Clinical efficacy, COPD Assessment Test (CAT) score, modified Medical Research Council Dyspnea Scale (mMRC), 6-minute walk test (6MWT), serum inflammatory factors, T lymphocyte subsets, and serum PD-1/PD-L1 levels were compared between the two groups before and after treatment. ResultsThe total clinical effective rate was 78.57% (33/42) in the control group and 95.35% (41/43) in the observation group, with the observation group showing significantly higher efficacy than that of the control group. The difference was statistically significant (χ2 = 5.136, P<0.05). After treatment, both groups showed significant reductions in CAT and mMRC scores (P<0.05, P<0.01) and significant increases in 6MWT compared to baseline (P<0.01). The observation group demonstrated significantly greater improvements than the control group in this regard. Levels of inflammatory markers including C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1(MCP-1), and macrophage inflammatory protein-1α (MIP-1α) were significantly reduced in both groups (P<0.05, P<0.01), with greater reductions in the observation group (P<0.05, P<0.01). CD8+ levels were significantly reduced (P<0.01), while CD3+, CD4+, and CD4+/CD8+ levels were significantly increased in both groups after treatment (P<0.05, P<0.01), with more significant improvements observed in the observation group (P<0.05, P<0.01). Serum PD-1 levels were reduced (P<0.05, P<0.01), and PD-L1 levels were increased significantly in both groups after treatment (P<0.05, P<0.01), with more pronounced changes in the observation group (P<0.05). ConclusionMaxing Loushi decoction demonstrates definite therapeutic efficacy as an adjunctive treatment for patients with AECOPD and phlegm turbidity obstructing lung syndrome. It contributes to reducing serum inflammatory factors, improving immune function, and regulating the PD-1/PD-L1 signaling pathway.
6.Effect of Maxing Loushi Decoction on Inflammatory Factors, Immune Function, and PD-1/PD-L1 Signaling Pathway in Patients with Acute Exacerbation of Chronic Obstructive Pulmonary Disease with Phlegm Turbidity Obstructing Lung Syndrome
Yuexin SHI ; Zhi YAO ; Jun YAN ; Caijun WU ; Li LI ; Yuanzhen JIAN ; Guangming ZHENG ; Yanchen CAO ; Haifeng GUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):143-150
ObjectiveTo evaluate the clinical efficacy of Maxing Loushi decoction in the treatment of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) with phlegm turbidity obstructing lung syndrome, and to investigate its effects on inflammatory factors, immune function, and the programmed death-1(PD-1)/programmed death-ligand 1 (PD-L1) signaling pathway. MethodsA randomized controlled study was conducted, enrolling 90 hospitalized patients with AECOPD and phlegm turbidity obstructing lung syndrome in the Respiratory and Emergency Departments of Dongzhimen Hospital, Beijing University of Chinese Medicine, from April 2024 to December 2024. Patients were randomly assigned to a control group and an observation group using a random number table, with 45 patients in each group. The control group received conventional Western medical treatment, while the observation group received additional Maxing Loushi decoction for 14 days. Clinical efficacy, COPD Assessment Test (CAT) score, modified Medical Research Council Dyspnea Scale (mMRC), 6-minute walk test (6MWT), serum inflammatory factors, T lymphocyte subsets, and serum PD-1/PD-L1 levels were compared between the two groups before and after treatment. ResultsThe total clinical effective rate was 78.57% (33/42) in the control group and 95.35% (41/43) in the observation group, with the observation group showing significantly higher efficacy than that of the control group. The difference was statistically significant (χ2 = 5.136, P<0.05). After treatment, both groups showed significant reductions in CAT and mMRC scores (P<0.05, P<0.01) and significant increases in 6MWT compared to baseline (P<0.01). The observation group demonstrated significantly greater improvements than the control group in this regard. Levels of inflammatory markers including C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1(MCP-1), and macrophage inflammatory protein-1α (MIP-1α) were significantly reduced in both groups (P<0.05, P<0.01), with greater reductions in the observation group (P<0.05, P<0.01). CD8+ levels were significantly reduced (P<0.01), while CD3+, CD4+, and CD4+/CD8+ levels were significantly increased in both groups after treatment (P<0.05, P<0.01), with more significant improvements observed in the observation group (P<0.05, P<0.01). Serum PD-1 levels were reduced (P<0.05, P<0.01), and PD-L1 levels were increased significantly in both groups after treatment (P<0.05, P<0.01), with more pronounced changes in the observation group (P<0.05). ConclusionMaxing Loushi decoction demonstrates definite therapeutic efficacy as an adjunctive treatment for patients with AECOPD and phlegm turbidity obstructing lung syndrome. It contributes to reducing serum inflammatory factors, improving immune function, and regulating the PD-1/PD-L1 signaling pathway.
7.Analysis of Current Status and Prospects of Traditional Chinese Medicine in Responding to Public Health Emergencies Under Healthy China Strategy: Taking Major Emerging Epidemics as an Example
Yuqing CAO ; Xinyu JI ; Xiyu SHANG ; Qiujie CAI ; Yipin FAN ; Yanping WANG ; Yan MA
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(20):222-232
Under the background of the Healthy China strategy, the integration of traditional Chinese medicine (TCM) into the public health emergency response system has become an important measure to enhance the capacity for coping with public health emergencies. In recent years, the role of TCM in responding to such emergencies has become increasingly prominent. Taking major emerging epidemics as an example, TCM has developed a rich theoretical system and practical experience in epidemic prevention and treatment over thousands of years, and has played a significant role in successive outbreaks with its unique advantages. Based on the concept of ''preventing disease before its onset'' and the theoretical framework of treatment based on syndrome differentiation, TCM has achieved remarkable results through early intervention and full participation in the integrated model of TCM and Western medicine, from severe acute respiratory syndrome (SARS) to corona virus disease-2019 (COVID-19), in improving clinical symptoms and outcomes, reducing adverse reactions, and promoting recovery. From the perspective of the Healthy China strategy, this paper systematically reviews the historical development of TCM in epidemic prevention and treatment, with particular attention to recent epidemics such as SARS, influenza A (H1N1), and COVID-19. It further examines the similarities and differences between TCM and Western medicine in responding to major emerging epidemics, as well as relevant policies related to TCM in epidemic prevention and control. In addition, it summarizes the existing problems in TCM's role in the prevention and treatment of major emerging epidemics, and explores measures to improve its rapid response capacity under the Healthy China strategy. This study not only provides a ''Chinese solution'' for the prevention and control of newly emerging infectious diseases worldwide, but also offers theoretical and practical references for strengthening the public health emergency response system, carrying strategic significance for promoting the modernization and internationalization of TCM.
8.Marginal Zone Lymphoma with Recurrent Intestinal Obstruction After Multiple Chemotherapy: A Case Report
Sirui HAN ; Yan ZHANG ; Guannan ZHANG ; Peijun LIU ; Wen SHI ; Wenbo LI ; Rongrong LI ; Congwei JIA ; Jian CAO ; Wei WANG
Medical Journal of Peking Union Medical College Hospital 2025;16(5):1344-1351
This article reports a diagnostically and therapeutically challenging case of small intestinal marginal zone lymphoma. The patient presented with recurrent abdominal pain as the chief complaint, and imaging revealed multifocal small bowel wall thickening with high uptake, multisegmental luminal stenosis, and proximal dilation. Initial diagnostic workup, including gastroscopy, colonoscopy, and enteroscopy with biopsy, failed to establish a definitive diagnosis. Empirical anti-tuberculosis therapy was ineffective. A repeat enteroscopic biopsy performed over eight months after symptom onset eventually confirmed the diagnosis of mucosa-associated lymphoid tissue (MALT) extranodal marginal zone lymphoma. Despite three different chemotherapy regimens, the patient's intestinal obstruction symptoms persisted, with imaging still showing multifocal bowel wall thickening and hypermetabolic activity. A critical diagnostic dilemma arose regarding whether the PET/CT-positive lesions represented residual lymphoma or fibrotic scarring, whether further chemotherapy adjustments were warranted, and whether surgical resection was necessary. Multidisciplinary discussion concluded that imaging had limited discriminatory value in this scenario and that surgical intervention should be pursued if feasible. The patient successfully underwent partial small bowel resection, with postoperative pathology confirming no residual lymphoma but significant fibrotic changes. The patient has since resumed a normal diet, with body weight nearly restored to pre-illness levels. This case highlights that fibrotic transformation is a common sequela of treated marginal zone lymphoma and that PET/CT may misleadingly suggest residual disease, potentially leading to unnecessary chemotherapy. Timely surgical intervention is crucial in such scenarios.
9.Analysis of current status and trend of global research on diabetic cataract in the perspective of bibliometrics
Qian ZHANG ; Fengren ZHOU ; Yan ZHANG ; Suhua LI ; Cong WU ; Hanyu CAO
International Eye Science 2025;25(11):1754-1763
AIM: To review and summarize the current research and achievements in the field of diabetic cataract, with the aim of better identifying research hotspots and trends in this area.METHODS: Based on the relevant literature retrieved from the China National Knowledge Infrastructure, Web of Science databases, and Pubmed, a bibliometric analysis of the diabetic cataract was conducted by means of Microsoft Office Excel 2017 and CiteSpace 6.3R2. Research hotspots were subsequently synthesized after visualizations of author/country collaborations, co-citation networks of highly cited literature, keyword clustering, and emergence.RESULTS: A total of 815 Chinese and 572 English publications were finally included. Overall, this field had maintained substantial scholarly attention globally, though publications had progressively decreased since 2018. While inter-institutional collaboration in this area remained limited, a multinational collaborative network had emerged with the People's Republic of China, the United States of America, the United Kingdom, and the Kingdom of Spain as central hubs. Core research priorities in diabetic cataract consistently encompassed surgical and pharmacological interventions, pathogenesis, associated ocular/systemic complications; while international and domestic research contents aligned fundamentally in these domains, but the domestic research was unique in nursing interventions and herbal medicine-based interventions. Recent analytical trends revealed that Chinese investigations prioritized the pathogenic mechanisms of diabetic cataract, whereas international efforts concentrated on clinical therapeutics.CONCLUSION: This bibliometric analysis of diabetic cataract research literature(2000-2024)synthesizes the current advancements, research priorities, and scholarly contributions in the field, and intuitively demonstrates significant academic merit and clinical relevance, which can provide evidence-based guidance for the future research trajectories.
10.A Case of Multidisciplinary Treatment for Deficiency of Adenosine Deaminase 2
Jingyuan ZHANG ; Xiaoqi WU ; Jiayuan DAI ; Xianghong JIN ; Yuze CAO ; Rui LUO ; Hanlin ZHANG ; Tiekuan DU ; Xiaotian CHU ; Peipei CHEN ; Hao QIAN ; Pengguang YAN ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2025;4(3):316-324
This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the

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