ObjectiveTo investigate the regulatory effect of overexpressed protein tyrosine phosphatase non-receptor type 2 （Ptpn2） on the inflammatory response of mouse alveolar macrophages （MH-S） induced by SiO₂. MethodsCells with overexpressed Ptpn2 were constructed and induced by SiO₂. The experimental groups were divided into four groups： the negative control group with an empty vector （NC）， the overexpressed Ptpn2 group （P）， the negative control group with an empty vector + SiO₂ induction （NS）， and the overexpressed Ptpn2 + SiO₂ induction group （PS）. Isobaric tags for relative and absolute quantification （iTRAQ） combined with liquid chromatography-tandem mass spectrometry （LC-MS/MS） were used to screen differential proteins， followed by Gene Ontology （GO） and Kyoto Encyclopedia of Genes and Genomes （KEGG） database analyses. Immunofluorescence staining was used to detect the expressions of Tumor necrosis factor （TNF） α， Gasdermin D （GSDMD）， and Transforming growth factor （TGF）-β1. Western blot was used to detect the protein expression levels of PTPN2， Toll-like receptor 4 （TLR4）， tumor necrosis factor-α （TNF-α）， nucleotide-binding oligomerization domain-like receptor protein 3 （NLRP3）， and proteins related to the TGF-β1 signaling pathway in the cells of each group. ResultsiTRAQ results identified 144 differential proteins among the four groups. GO analysis showed that in biological processes （BP）， these differential proteins were mainly enriched in IκB kinase/nuclear factor-κB （NF-κB） signaling， cell activation and signal transduction involved in immune responses， and regulation of receptor signaling pathways by signal transducer and activator of transcription （STAT）， etc. KEGG analysis revealed that the differential proteins were mainly enriched in Toll-like receptor signaling pathway， NF-κB signaling pathway， NOD-like receptor signaling pathway， TGF-β signaling pathway， and TNF signaling pathway. The results of immunofluorescence staining showed that compared with the NC group， the expressions of TNF α， GSDMD， and TGF-β1 in the cells of the NS group increased （P < 0.05）； compared to the NS group， the expression of the aforementioned proteins in the PS group decreased in cellular proteins（P < 0.05）. The results of Western blot showed that compared with the NC group， the protein expression levels of PTPN2， p-NF-κB，MyD88，TLR4，NLRP3，GSDMD，Caspase-1，IL-1β， TGF-βR1， TGF-βR，p-Smad2/3 in the NS group were significantly upregulated （P < 0.05）； compared with the NS group， the expression levels of the aforementioned proteins in the PS group were significantly downregulated （P < 0.05）. ConclusionOverexpression of Ptpn2 can inhibit the protein expressions of TLR4-TNF-α signaling， NLRP3 signaling， and TGF-β1 signaling closely related to inflammatory response in SiO₂-mediated MH-S macrophages.

ObjectiveTo optimize the processing technology of honey bran-fried Rosae Laevigatae Fructus（h-RLF）， formulate relevant quality standards， and explore its improving effect and mechanism on mice with ulcerative colitis（UC） induced by dextran sodium sulfate（DSS）. MethodsTaking the content of polysaccharides and water-soluble extract as the indexes， L₉（3⁴） orthogonal test was used to optimize parameters of the amount of honey bran， frying time and frying temperature. The quality of 15 batches of h-RLF decoction pieces was evaluated according to the optimized process， and the inspection limit standard was preliminarily drawn up. Eighty SPF male Kunming mice were randomly divided into 8 groups， including the blank group， model group， mesalazine group（0.13 g·kg^-1）， RLF group（3.77 g·kg^-1）， bran-fried RLF group（3.77 g·kg^-1）， h-RLF low， medium and high dose groups（1.89， 3.77， 7.54 g·kg^-1）， with 10 mice in each group. The mice in the blank group were free to drink pure water， and the other groups were free to drink 3% DSS solution for 7 days to prepare UC mouse model. Each treatment group was given corresponding drugs by intragastric administration， and the blank and model groups were given equal volume of normal saline. The body weight of mice was recorded daily and the disease activity index（DAI） was calculated. After the administration， the colon tissues of mice were collected to observe the pathological changes by hematoxylin-eosin（HE） staining. The levels of tumor necrosis factor（TNF）-α， interleukin（IL）-1β， IL-6 and IL-10 in the colon of mice were detected by enzyme-linked immunosorbent assay（ELISA）. Western blot was used to detect the expression levels of phosphorylation nuclear transcription factor-κB p65（p-NF-κB p65）， Toll-like receptor 4（TLR4）， p-p38 mitogen-activated protein kinase（p-p38 MAPK）， p-extracellular signal-regulated kinase（p-ERK） and p-c-Jun N-terminal kinase（p-JNK） proteins in colon tissues. ResultsThe optimum processing technology of h-RLF was 20 g honey bran per 100 g RLF， and stir-frying at 200 ℃ for 8 min. The limit standard under the examination of h-RLF was preliminarily formulated as follows：the polysaccharide content should not be less than 25% based on anhydrous glucose（C₆H₁₂O₆）， the content of water-soluble extract should not be less than 38%， the moisture content should not be more than 12.0%， the total ash content should not be more than 5.0%， and the acid-insoluble ash content should not be more than 1.0%. The cluster heat map analysis showed that the quality of RLF from Huanggang， Hubei province was better. Animal experiments showed that compared with the blank group， the DAI score of the model group was significantly increased， the levels of TNF-α， IL-1β and IL-6 in the colon tissue were significantly increased， the IL-10 level was significantly decreased， the colonic mucosa was seriously damaged， accompanied by a large number of inflammatory cell infiltration， tissue congestion and a significant reduction in glands， and the expression levels of p-NF-κB p65， TLR4， p-p38 MAPK， p-ERK and p-JNK proteins were significantly increased（P<0.01）. Compared with the model group， each administration group could alleviate the symptoms of colonic ulcer， the structure of colonic crypt was basically intact， and the glands were arranged in an orderly manner. Among them， the high-dose group of h-RLF had a better effect， which could significantly reduce the DAI score and the levels of TNF-α， IL-1β and IL-6 in colon tissue（P<0.01）， and significantly increase the level of IL-10（P<0.01）， alleviate the colonic mucosal injury， and effectively inhibit the expression levels of p-NF-κB p65， TLR4， p-p38 MAPK， p-ERK and p-JNK proteins（P<0.01）. ConclusionThe key parameters of the processing technology of h-RLF are determined， and the optimized technology is stable and feasible. The established quality standard is simple and reliable， and can be used for the quality control. h-RLF can effectively alleviate DSS-induced UC， and its mechanism may be related to inhibiting the activation of NF-κB/TLR4/MAPK pathway.

OBJECTIVE: To investigate the association between fluid balance trajectories within the first 3 days of intensive care unit (ICU) admission and 28-day mortality as well as the incidence of continuous renal replacement therapy (CRRT) in patients with severe acute pancreatitis (SAP). METHODS: Clinical data of SAP patients were extracted from the Medical Information Mart of Intensive Care-IV (MIMIC-IV). Group-based trajectory modeling (GBTM) was used to analyze the daily fluid balance of patients within 3 days of ICU admission, and grouping them accordingly. Univariate and multivariate Logistic regression analyses were performed to assess the association between fluid balance trajectory and 28-day mortality and ICU CRRT in SAP patients. RESULTS: A total of 251 SAP patients were included, with 33 deaths within 28 days, and a 28-day mortality of 13.15%; 49 patients (19.52%) continued to receive bedside CRRT after 3 days of ICU admission. The fluid balance on the 3rd day, cumulative fluid balance within 3 days of ICU admission, and incidence of CRRT in the death group were significantly higher than those in the survival group. According to GBTM groups, there were 127 cases in the moderate fluid resuscitation with rapid reduction (MF group), 44 cases in the large fluid resuscitation with rapid reduction (LF group), 20 cases in the moderate fluid resuscitation with slow reduction (MS group), and 60 cases in the small fluid resuscitation with slow reduction (SS group). The cumulative fluid balance within 3 days of ICU admission of the MF group, LF group, MS group, and SS group were 8.60% (5.15%, 11.70%), 16.70% (13.00%, 21.02%), 23.40% (19.38%, 25.45%), and 0.65% (-2.35%, 2.20%), respectively, and the incidence of CRRT during ICU hospitalization were 11.02%, 29.55%, 85.00%, and 8.33%, respectively, with statistically significant differences among the groups (both P < 0.05); the 28-day mortality were 11.02%, 18.18%, 20.00%, and 11.67%, respectively, with no statistically significant difference among the groups (P > 0.05). Kaplan-Meier survival curve analysis showed there was no statistically significant difference in 28-day cumulative survival rate among groups with different fluid balance trajectories (Log-rank test: χ ² = 2.31, P = 0.509). Multivariate Logistic regression analysis showed that cumulative fluid balance within 3 days of ICU admission was an independent risk factor for 28-day mortality [odds ratio (OR) = 1.071, 95% confidence interval (95%CI) was 1.005-1.144, P = 0.040] and CRRT requirement (OR = 1.233, 95%CI was 1.125-1.372, P < 0.001); early aggressive fluid resuscitation on day 1 reduced CRRT risk (OR = 0.866, 95%CI was 0.756-0.978, P = 0.030). CONCLUSIONS Dynamic fluid management is essential in SAP patients. While early aggressive fluid resuscitation may reduce CRRT demand, excessive cumulative fluid balance is associated with increased 28-day mortality and CRRT incidence.
Humans ; Male ; Female ; Middle Aged ; Water-Electrolyte Balance ; Continuous Renal Replacement Therapy ; Intensive Care Units ; Aged ; Adult ; Pancreatitis/mortality* ; Logistic Models ; Retrospective Studies ; Renal Replacement Therapy

Objective:To evaluate the effect of dexmedetomidine on the viability of dopaminergic neurons in the ventral tegmental area (VTA) of morphine-addicted mice.Methods:Experiment Ⅰ Thirty SPF healthy adult male C57BL/6 mice, aged 8 weeks, weighing 20-25 g, were divided into 3 groups ( n=10 each) using the random number table method: normal saline group (NS group), dexmedetomidine 50 μg/kg group (DEX50 group), and dexmedetomidine 100 μg/kg group (DEX100 group). A morphine addiction model was established by intraperitoneal injection of increasing doses of morphine (10, 20, 30, 40, 50 and 50 mg/kg) for 6 consecutive days in mice. After the successful establishment of the model, dexmedetomidine 50 and 100 μg/kg were intraperitoneally injected for 14 consecutive days in group DEX50 and group DEX100 respectively, while normal saline was given instead in group C. The conditioned place preference (CPP) experiment was conducted every other day. Experiment Ⅱ Thirty SPF healthy adult male C57BL/6 mice, aged 8 weeks, weighing 20-25 g, were divided into 3 groups ( n=10 each) by the random number table method: control group (C group), morphine group (Mor group) and dexmedetomidine 50 μg/kg group (DEX50 group). Normal saline was intraperitoneally injected for 10 consecutive days in group C. Morphine with increasing doses was intraperitoneally injected for 6 days, and then normal saline was intraperitoneally injected for 4 consecutive days in group Mor. Morphine with increasing doses was intraperitoneally injected for 6 days, and then dexmedetomidine 50 μg/kg was intraperitoneally injected for 4 consecutive days in group DEX50. The mice were anesthetized at 90 min after the last intraperitoneal injection, brain tissues were harvested, and the corresponding brain slices of the VTA were selected for c-Fos immunofluorescence staining. Experiment Ⅲ Ten dopamine transporter-Cre recombinase mice were divided into 2 groups ( n=5 each) by the random number table method: morphine group (Mor group) and morphine+ dexmedetomidine 50 μg/kg group (Mor+ DEX group). Stereotaxic viral injection was performed in the brain. rAAV-EF1α-DIO-GCaMP6s was injected into the VTA and an optical fiber was implanted. Three weeks later, a morphine addiction model was established based on Experiment Ⅰ for the CPP experiment, morphine was intraperitoneally injected in group Mor, and morphine and dexmedetomidine were intraperitoneally injected in group Mor+ DEX. The viral fluorescence signals were recorded at 5 min before and 20 min after the drug administration in the three groups. Results:Experiment Ⅰ There was no statistically significant difference in the CPP scores after developing the morphine addiction model among the three groups ( P>0.05). Compared with group NS, the CPP scores were significantly decreased at 4-14 days of the continuous administration in group DEX50 and group DEX100 ( P<0.05). Experiment Ⅱ Compared with group C, the number of c-Fos positive cells in the VTA was significantly increased in group Mor ( P<0.05). Compared with group Mor, the number of c-Fos positive cells in the VTA was significantly decreased in group DEX ( P<0.05). Experiment Ⅲ Compared with that before administration, the calcium signals of dopaminergic neurons in the VTA were significantly enhanced in group Mor ( P<0.05), and no statistically significant difference was found in the calcium signals of dopaminergic neurons in the VTA in group Mor+ DEX ( P>0.05). Compared with group Mor, no statistically significant difference was found in the calcium signals of dopaminergic neurons in the VTA before drug administration ( P>0.05), and the calcium signals of dopaminergic neurons in the VTA were significantly weakened after administration in group Mor+ DEX ( P<0.05). Conclusions:The mechanism by which dexmedetomidine promotes the extinction of morphine addiction is related to the inhibition of the viability of dopaminergic neurons in the VTA of mice.

Objective:To observe the effects of peptidylarginine deiminase 2 (PAD2) inhibitor AFM-30a on silicotic mice and its possible mechanisms.Methods:In May 2022, 40 SPF male C57BL/6J mice were randomly divided into control group, AFM-30a group, silicosis model group and AFM-30a treatment group, with 10 mice in each group. Silicosis model group and AFM-30a treatment group were perfused with silicon dioxide (SiO 2) suspension (10 mg/piece, 50 μl), and the other groups were perfused with an equal amount of sodium chloride solution. After 2 weeks, AFM-30a group and AFM-30a treatment group were intraperitoneally injected AFM-30a (20 mg/kg, 100 μl) daily, and mice of other groups were injected with equal amounts of sodium chloride solution for 4 weeks. Mouse RAW264.7 monocytes/macrophages were cultured in vitro and divided into blank control group, AFM-30a group (5 μmol/L), SiO 2 group (200 μg/ml), and SiO 2+AFM-30a group (200 μg/ml SiO 2 induction for 12 h, followed by 5 μmol/L AFM-30a treatment for 12 h). As well as blank control group, vimentin (Vim) group (2 μg/ml), citrullinated vimentin (Cit-Vim) group (2 μg/ml), and Cit-Vim+TLR4-C34 group (10 μmol/L TLR4-C34 treatment for 1 h, followed by 2 μg/ml Cit-Vim induction for 24 h). Hematoxylin Eosin (HE) and Masson staining were used to observe the pathological morphology of lung. The lung fieldclarity and lung texture of each group was observed by micro-CT. The number of positive cells was detected by tartrate resistant acid phosphatase (TRAP) staining. The localization and expression levels of PAD2, Cit-Vim, toll-like receptor 4 (TLR4) signaling and receptor activator of nuclear factor-κB ligand (RANKL) signaling proteins were measured by Immunofluorescence staining and Western blotting in vitro and in vivo. The experimental data were all presented as Mean±SD. A completely random design of one-way analysis of variance was used among the groups. The pduo comparison was performed using LSD test for homogeneity of variance and Tamhane's test for inconsistency. Results:Compared with the control group, the silicosis model group showed the formation of silicon nodules accompanied by collagen deposition, the silicosis model group showed thickened, and several high-density shadows of varying sizes in the lung field, and the number of TRAP positive cells in silicosis model group were increased significantly, the expression levels of PAD2, Cit-Vim, TLR4 and RANKL signal-related proteins were also significantly increased in silicosis groupmodel ( P<0.05). Compared with the silicosis model group, the AFM-30a treatment group reduced deposition of collagen in lung, and the number of TRAP positive cells was decreased in AFM-30a treatment group. The expression levels of PAD2, Cit-Vim, TLR4 and RANKL signaling related proteins were significantly decreased in AFM-30a treatment group ( P<0.05). In vitro, compared with the blank control group, the number of TRAP positive cells and the expression levels of PAD2, Cit-Vim, TLR4 and RANKL signaling related proteins in the SiO 2 group were significantly increased ( P<0.05). Compared with the SiO 2 group, the number of TRAP positive cells and the expression levels of PAD2, Cit-Vim, TLR4 and RANKL signaling related proteins in the SiO 2+AFM-30a group were significantly decreased ( P<0.05). Compared with the blank control group, the expression levels of TLR4 and RANKL signaling related proteins in the Cit-Vim group were significantly increased ( P<0.05). Compared with the Cit-Vim group, the expression levels of TLR4 and RANKL signaling related proteins in the Cit-Vim+TLR4-C34 group were significantly decreased ( P<0.05) . Conclusion:PAD2 inhibitor AFM-30a may play an antagonisticrole in silicotic fibrosis in mice by potentialregulating TLR4 and RANKL signaling pathways.

Objective To investigate the protective effect and mechanism of adenosine-lidocaine-magnesium sulfate(ALM)resuscita-tion solution against acute lung injury in sepsis were investigated through in vitro and in vivo experiments.Methods ALM resuscitation solution effects on septic lung injury were assessed in SD rats and rat pulmonary micro vascular endothelial cells(PMVEC)in vitro,and the effector mechanism was explored by using network pharmacology combined with molecular biology methods,detecting alterations in nuclear factor kappaB(NF-κB)signaling pathway and inflammatory cytokine key protein expressions.Results Based on in vivo experi-ments,ALM resuscitation solution treatment significantly improved lung histopathological injury in cecal ligation and puncture(CLP)model rats,reduced the lung injury score and lung dry-to-wet ratio(P＜0.01),and significantly suppressed pro-inflammatory cytokine expressions such as that of IL-1β,IL-6,and TNF-α(P＜0.01).Moreover,in vitro experiments confirmed that ALM resuscitation solution significantly reduced p-p65 and p-IκBα protein expressions in LPS-induced PMVEC(P＜0.05),while down-regulating IL-1β,IL-6,and TNF-α protein levels(P＜0.01).Conclusion ALM resuscitation solution exerts a protective effect against acute lung injury in sepsis by inhibiting NF-κB signaling pathway activation and reducing pro-inflammatory cytokine release.

The clinical manifestations and genealogic test results of twin sisters with systemic lupus erythematosus (SLE) caused by the homozygous mutation of NCF1 treated at the Department of Pediatrics, Nanfang Hospital, Southern Medical University from May 2021 to January 2024 were reported.Case 1 (a 8-year-old girl) was admitted in May 2021 due to " epistaxis for two times and thrombocytopenia for more than 1 month", presenting tricytopenia, mainly thrombocytopenia.A homozygous mutation of NCF1 gene c. 269G > A (p.R90H) was detected in case 1, and she was subsequently diagnosed with SLE.Case 2 (a 11-year-old girl), the little sister of case 1, was admitted in January 2024 due to " repeated fever for more than 10 days, cough for 2 days, and convulsion once". The manifestations were reduced myelodysplasia, hemophagy accounted for 66%, and perineal ulcer during treatment.She was finally diagnosed with SLE and also had a homozygous mutation of NCF1 gene c. 269G > A (p.R90H).Their parents both carried the mutation.This case provides a reference for pathogenic mutations and phenotypes of NCF1.It suggests that close attention should be paid to the family history of patients in clinical diagnosis of SLE.

Objective:To evaluate the effect of dexmedetomidine on the viability of dopaminergic neurons in the ventral tegmental area (VTA) of morphine-addicted mice.Methods:Experiment Ⅰ Thirty SPF healthy adult male C57BL/6 mice, aged 8 weeks, weighing 20-25 g, were divided into 3 groups ( n=10 each) using the random number table method: normal saline group (NS group), dexmedetomidine 50 μg/kg group (DEX50 group), and dexmedetomidine 100 μg/kg group (DEX100 group). A morphine addiction model was established by intraperitoneal injection of increasing doses of morphine (10, 20, 30, 40, 50 and 50 mg/kg) for 6 consecutive days in mice. After the successful establishment of the model, dexmedetomidine 50 and 100 μg/kg were intraperitoneally injected for 14 consecutive days in group DEX50 and group DEX100 respectively, while normal saline was given instead in group C. The conditioned place preference (CPP) experiment was conducted every other day. Experiment Ⅱ Thirty SPF healthy adult male C57BL/6 mice, aged 8 weeks, weighing 20-25 g, were divided into 3 groups ( n=10 each) by the random number table method: control group (C group), morphine group (Mor group) and dexmedetomidine 50 μg/kg group (DEX50 group). Normal saline was intraperitoneally injected for 10 consecutive days in group C. Morphine with increasing doses was intraperitoneally injected for 6 days, and then normal saline was intraperitoneally injected for 4 consecutive days in group Mor. Morphine with increasing doses was intraperitoneally injected for 6 days, and then dexmedetomidine 50 μg/kg was intraperitoneally injected for 4 consecutive days in group DEX50. The mice were anesthetized at 90 min after the last intraperitoneal injection, brain tissues were harvested, and the corresponding brain slices of the VTA were selected for c-Fos immunofluorescence staining. Experiment Ⅲ Ten dopamine transporter-Cre recombinase mice were divided into 2 groups ( n=5 each) by the random number table method: morphine group (Mor group) and morphine+ dexmedetomidine 50 μg/kg group (Mor+ DEX group). Stereotaxic viral injection was performed in the brain. rAAV-EF1α-DIO-GCaMP6s was injected into the VTA and an optical fiber was implanted. Three weeks later, a morphine addiction model was established based on Experiment Ⅰ for the CPP experiment, morphine was intraperitoneally injected in group Mor, and morphine and dexmedetomidine were intraperitoneally injected in group Mor+ DEX. The viral fluorescence signals were recorded at 5 min before and 20 min after the drug administration in the three groups. Results:Experiment Ⅰ There was no statistically significant difference in the CPP scores after developing the morphine addiction model among the three groups ( P>0.05). Compared with group NS, the CPP scores were significantly decreased at 4-14 days of the continuous administration in group DEX50 and group DEX100 ( P<0.05). Experiment Ⅱ Compared with group C, the number of c-Fos positive cells in the VTA was significantly increased in group Mor ( P<0.05). Compared with group Mor, the number of c-Fos positive cells in the VTA was significantly decreased in group DEX ( P<0.05). Experiment Ⅲ Compared with that before administration, the calcium signals of dopaminergic neurons in the VTA were significantly enhanced in group Mor ( P<0.05), and no statistically significant difference was found in the calcium signals of dopaminergic neurons in the VTA in group Mor+ DEX ( P>0.05). Compared with group Mor, no statistically significant difference was found in the calcium signals of dopaminergic neurons in the VTA before drug administration ( P>0.05), and the calcium signals of dopaminergic neurons in the VTA were significantly weakened after administration in group Mor+ DEX ( P<0.05). Conclusions:The mechanism by which dexmedetomidine promotes the extinction of morphine addiction is related to the inhibition of the viability of dopaminergic neurons in the VTA of mice.

Objective To investigate the protective effect and mechanism of adenosine-lidocaine-magnesium sulfate(ALM)resuscita-tion solution against acute lung injury in sepsis were investigated through in vitro and in vivo experiments.Methods ALM resuscitation solution effects on septic lung injury were assessed in SD rats and rat pulmonary micro vascular endothelial cells(PMVEC)in vitro,and the effector mechanism was explored by using network pharmacology combined with molecular biology methods,detecting alterations in nuclear factor kappaB(NF-κB)signaling pathway and inflammatory cytokine key protein expressions.Results Based on in vivo experi-ments,ALM resuscitation solution treatment significantly improved lung histopathological injury in cecal ligation and puncture(CLP)model rats,reduced the lung injury score and lung dry-to-wet ratio(P＜0.01),and significantly suppressed pro-inflammatory cytokine expressions such as that of IL-1β,IL-6,and TNF-α(P＜0.01).Moreover,in vitro experiments confirmed that ALM resuscitation solution significantly reduced p-p65 and p-IκBα protein expressions in LPS-induced PMVEC(P＜0.05),while down-regulating IL-1β,IL-6,and TNF-α protein levels(P＜0.01).Conclusion ALM resuscitation solution exerts a protective effect against acute lung injury in sepsis by inhibiting NF-κB signaling pathway activation and reducing pro-inflammatory cytokine release.

The clinical manifestations and genealogic test results of twin sisters with systemic lupus erythematosus (SLE) caused by the homozygous mutation of NCF1 treated at the Department of Pediatrics, Nanfang Hospital, Southern Medical University from May 2021 to January 2024 were reported.Case 1 (a 8-year-old girl) was admitted in May 2021 due to " epistaxis for two times and thrombocytopenia for more than 1 month", presenting tricytopenia, mainly thrombocytopenia.A homozygous mutation of NCF1 gene c. 269G > A (p.R90H) was detected in case 1, and she was subsequently diagnosed with SLE.Case 2 (a 11-year-old girl), the little sister of case 1, was admitted in January 2024 due to " repeated fever for more than 10 days, cough for 2 days, and convulsion once". The manifestations were reduced myelodysplasia, hemophagy accounted for 66%, and perineal ulcer during treatment.She was finally diagnosed with SLE and also had a homozygous mutation of NCF1 gene c. 269G > A (p.R90H).Their parents both carried the mutation.This case provides a reference for pathogenic mutations and phenotypes of NCF1.It suggests that close attention should be paid to the family history of patients in clinical diagnosis of SLE.