Objective To investigate the status and distribution characteristics of human immuno-deficiency virus(HIV)infection,and the relationship between sample value/cut-off value(S/CO value)and positive test when HIV is tested reactivity by chemiluminescence immunoassay(CLIA).Methods The data of 820 HIV reactivity samples screened by Abbott CLIA in the Department of Clinical Laboratory of Affiliated Hospital of Inner Mongolia Medical University from 2017 to 2023 were selected as the research objects.SPSS22.0 software was used for statistical analysis according to different years,genders and ages.The distribution characteristics of screening reactivity and confirmed positive immunoblot test was compared.The relationship between the confirmed positive,uncertain and negative results and their S/CO values,and the distribution of corresponding bands were retrospectively analyzed.Results From 2017 to 2023,the total number of HIV positive patients decreased first decreased and then increased.The positive rate was 31.95%(262/820),the ratio of males to females was 6.7∶1,the gender difference was statistically significant(χ2=126.8,P<0.05).The ratio of men to women who responded to the screening test was 1.4∶1.The age group with the most confirmed positives for both men and women was 30～50 years old.Divided into five groups according to S/CO value,the positive rate was 0%(0/436)in 1.0≤S/CO≤5.0 group,the positive rate was 6.90%(4/58)in 5.0＜S/CO≤10.0 group,the positive rate was 25.86%(15/58)in 10.0＜S/CO≤50.0 group,the positive rate was 82.09%(110/134)in 50.0＜S/CO≤500.0 group,and the positive rate was 99.25%(133/134)in S/CO＞500.0 group,there was statistical significance in the number of confirmed positives among the five groups(χ2=816.3,P<0.05).There were 473 confirmed negative cases,more women than men,the difference was statistically significant(χ2=98.3,P<0.05),among which the results of S/CO value≤10.0 accounted for 90.49%(428/473).There were 85 uncertain cases,the gender difference was not statistically significant(χ2=1.3,P>0.05),among which the results of S/CO value≤10.0 accounted for 72.94%(62/85).The positive bands gp120 and gp160 appeared in all the results,and p55 appeared the least,accounted for 51.91%(136/262).The uncertain bands were mainly p24,followed by gp160,etc.To a certain extent,the higher the S/CO value of chemiluminescence screening test,the more bands were present when the confirmative test was positive,and the more bands were present when the confirmative test was uncertain.Conclusion The higher the S/CO value of chemiluminescence test for HIV screening test,the higher the positive rate of the confirmation test and the more positive bands,they have practical value for laboratory analysis and early clinical diagnosis.

Objective:To summarize the clinicopathological features, evolving trends in treatment and surgical approaches, and survival outcomes of patients who underwent D2 radical gastrectomy for gastric cancer in Shanxi Provincial Cancer Hospital over the past 11 years with the goal of providing a reference for the clinical practice of gastric cancer in this region.Methods:A retrospective observational study was conducted to analyze the clinicopathological data of patients who underwent D2 radical gastrectomy for pathologically confirmed gastric malignancy at the Department of Gastrointestinal Surgery, Shanxi Provincial Cancer Hospital from January, 2013 to December, 2023. Exclusion criteria consisted of: (1) residual gastric cancer or recurrent gastric cancer after surgery; (2) emergency gastric cancer resection due to bleeding, perforation, obstruction, or other causes; (3) comorbidity with other primary malignant tumors; (4) severe preoperative cardiopulmonary insufficiency or hepatic and renal insufficiency who cannot tolerate radical surgery; and (5) inconsistent main diagnosis information across the medical record system, pathological system, and gastric cancer-specific database. Patients were divided into three groups based on treatment methods: the surgery-only group, the perioperative chemotherapy group, and the adjuvant chemotherapy group. Endpoints included: (1) baseline patient characteristics; (2) trends in tumor location and pathological features; (3) evolution of treatment modalities; and (4) survival outcomes.Results:A total of 15,644 patients were included in the analysis, with 12,591 males and 3,053 females, the male-to-female gender ration was approximately 4∶1; the mean age was (61.2±9.5) years. The tumor sites were mainly concentrated in the esophagogastric junction (EGJ) (57.4%), followed by the antrum (25.9%). The incidence of EGJ cancer initially rose and then declined. However, gastric antrum tumors remained stable, and gastric body tumors showed a slow upward trend after 2020, accounting for 16.7%. In terms of pathological types, poorly differentiated carcinoma was the most prevalent, accounting for 55.9%, followed by moderately differentiated carcinoma (24.2%), mucinous adenocarcinoma (or signet ring cell carcinoma,14.1%), neuroendocrine carcinoma (4.8%), and well-differentiated carcinoma (0.9%). The proportion of poorly differentiated adenocarcinoma showed a significant upward trend overall as well, peaking at 65.6% in 2022 and decreasing to 57.5% in 2023. Mucinous adenocarcinoma (or signet ring cell carcinoma) exhibited fluctuations with a first increase followed by a decrease: it peaked at 17.3% in 2018, dropped sharply to 8.4% in 2022, and rose back to 13.8% in 2023. The proportions of well-differentiated adenocarcinoma, moderately differentiated adenocarcinoma, and neuroendocrine tumors remained stable year by year. In terms of pathological staging, the overall proportions of gastric cancer at Stage 0, Stage I, Stage II, Stage III, and Stage IVa were 0.5%, 17.3%, 25.1%, 54.9%, and 2.3%, respectively. For Stage III, its proportion was 74.6% in 2013, which decreased to 46.4% by 2023. Stages I and II gastric cancer showed an upward trend, with their proportions rising from 10.2% and 12.1% in 2013 to nearly 21.0% and 29.6% in 2023, respectively. Between 2013 and 2023, the proportion of patients who received surgery alone continued to decrease, with this proportion dropping to 34.7% in 2023. In contrast, the number of patients who received adjuvant chemotherapy increased year by year, reaching 54.2% in 2023. Since 2017, the application of perioperative chemotherapy has gradually increased, rising to 11.1% in 2023. Immunotherapy showed an almost synchronous growth trend with perioperative chemotherapy. However, targeted therapy exhibited a downward trend after a period of growth. There were 10,704 cases of open surgery (68.4%), 4,744 cases of laparoscopic surgery (30.3%), and 193 cases of transthoracic surgery (1.2%). Pathological margin positivity was observed in 443 cases (2.8%), and the volume of gastric cancer surgeries gradually increased, peaked in 2021 before subsequently decreasing gradually. However, the volume of laparoscopic surgeries did not decrease; instead, it showed an upward trend. The main resection method for EGJ tumors was total gastrectomy, accounting for 78.5% of the total, followed by proximal gastrectomy, which accounted for 21.5%. After total gastrectomy, esophagojejunal Roux-en-Y anastomosis was the primary anastomotic method, and for proximal gastrectomy, the main anastomotic method was esophagogastric anastomosis, which accounted for 68.0% of the total. For distal gastrectomy, Billroth II anastomosis was the most common anastomotic technique, accounting for 92.7% of these procedures. The overall incidence of postoperative complications was 14.5% (2,264/15,644), among which the incidence of severe complications (grades III-IV) was 4.5% (706/15,644). The entire cohort was followed up with for (47.1±36.8) months, and the 1-year, 3-year, and 5-year overall survival rates were 86.4%, 65.9%, and 58.1%, respectively. For patients with stage 0, I, II, III, and IV gastric adenocarcinoma, the 1-year overall survival rates were 95.7%, 98.0%, 89.4%, 81.0%, and 49.1%, respectively; the 3-year overall survival rates were 92.1%, 94.6%, 81.9%, 51.4%, and 14.7%, respectively; and the 5-year overall survival rates were 89.4%, 91.7%, 75.1%, 41.5%, and 10.0%, respectively. For patients with stage I, II, III, and IV gastric neuroendocrine carcinoma, the 1-year overall survival rates were 96.7%, 91.1%, 73.8%, and 52.6%, respectively; the 3-year overall survival rates were 87.2%, 69.6%, 46.1%, and 32.1%, respectively; and the 5-year overall survival rates were 87.2%, 62.2%, 36.7%, and 32.1%, respectively.Conclusions:Gastric cancer in Shanxi Province is characterized by a male predominance, a high prevalence of tumors at the esophagogastric junction, a large proportion of poorly differentiated adenocarcinoma, and presentation at advanced stages (predominantly Stage III). The detection rate of early gastric cancer has been increasing year by year, the volume of laparoscopic surgeries has been on the rise annually, and the treatment model has shifted from single surgery to comprehensive treatment.

Objective To investigate the status and distribution characteristics of human immuno-deficiency virus(HIV)infection,and the relationship between sample value/cut-off value(S/CO value)and positive test when HIV is tested reactivity by chemiluminescence immunoassay(CLIA).Methods The data of 820 HIV reactivity samples screened by Abbott CLIA in the Department of Clinical Laboratory of Affiliated Hospital of Inner Mongolia Medical University from 2017 to 2023 were selected as the research objects.SPSS22.0 software was used for statistical analysis according to different years,genders and ages.The distribution characteristics of screening reactivity and confirmed positive immunoblot test was compared.The relationship between the confirmed positive,uncertain and negative results and their S/CO values,and the distribution of corresponding bands were retrospectively analyzed.Results From 2017 to 2023,the total number of HIV positive patients decreased first decreased and then increased.The positive rate was 31.95%(262/820),the ratio of males to females was 6.7∶1,the gender difference was statistically significant(χ2=126.8,P<0.05).The ratio of men to women who responded to the screening test was 1.4∶1.The age group with the most confirmed positives for both men and women was 30～50 years old.Divided into five groups according to S/CO value,the positive rate was 0%(0/436)in 1.0≤S/CO≤5.0 group,the positive rate was 6.90%(4/58)in 5.0＜S/CO≤10.0 group,the positive rate was 25.86%(15/58)in 10.0＜S/CO≤50.0 group,the positive rate was 82.09%(110/134)in 50.0＜S/CO≤500.0 group,and the positive rate was 99.25%(133/134)in S/CO＞500.0 group,there was statistical significance in the number of confirmed positives among the five groups(χ2=816.3,P<0.05).There were 473 confirmed negative cases,more women than men,the difference was statistically significant(χ2=98.3,P<0.05),among which the results of S/CO value≤10.0 accounted for 90.49%(428/473).There were 85 uncertain cases,the gender difference was not statistically significant(χ2=1.3,P>0.05),among which the results of S/CO value≤10.0 accounted for 72.94%(62/85).The positive bands gp120 and gp160 appeared in all the results,and p55 appeared the least,accounted for 51.91%(136/262).The uncertain bands were mainly p24,followed by gp160,etc.To a certain extent,the higher the S/CO value of chemiluminescence screening test,the more bands were present when the confirmative test was positive,and the more bands were present when the confirmative test was uncertain.Conclusion The higher the S/CO value of chemiluminescence test for HIV screening test,the higher the positive rate of the confirmation test and the more positive bands,they have practical value for laboratory analysis and early clinical diagnosis.

Objective:To summarize the clinicopathological features, evolving trends in treatment and surgical approaches, and survival outcomes of patients who underwent D2 radical gastrectomy for gastric cancer in Shanxi Provincial Cancer Hospital over the past 11 years with the goal of providing a reference for the clinical practice of gastric cancer in this region.Methods:A retrospective observational study was conducted to analyze the clinicopathological data of patients who underwent D2 radical gastrectomy for pathologically confirmed gastric malignancy at the Department of Gastrointestinal Surgery, Shanxi Provincial Cancer Hospital from January, 2013 to December, 2023. Exclusion criteria consisted of: (1) residual gastric cancer or recurrent gastric cancer after surgery; (2) emergency gastric cancer resection due to bleeding, perforation, obstruction, or other causes; (3) comorbidity with other primary malignant tumors; (4) severe preoperative cardiopulmonary insufficiency or hepatic and renal insufficiency who cannot tolerate radical surgery; and (5) inconsistent main diagnosis information across the medical record system, pathological system, and gastric cancer-specific database. Patients were divided into three groups based on treatment methods: the surgery-only group, the perioperative chemotherapy group, and the adjuvant chemotherapy group. Endpoints included: (1) baseline patient characteristics; (2) trends in tumor location and pathological features; (3) evolution of treatment modalities; and (4) survival outcomes.Results:A total of 15,644 patients were included in the analysis, with 12,591 males and 3,053 females, the male-to-female gender ration was approximately 4∶1; the mean age was (61.2±9.5) years. The tumor sites were mainly concentrated in the esophagogastric junction (EGJ) (57.4%), followed by the antrum (25.9%). The incidence of EGJ cancer initially rose and then declined. However, gastric antrum tumors remained stable, and gastric body tumors showed a slow upward trend after 2020, accounting for 16.7%. In terms of pathological types, poorly differentiated carcinoma was the most prevalent, accounting for 55.9%, followed by moderately differentiated carcinoma (24.2%), mucinous adenocarcinoma (or signet ring cell carcinoma,14.1%), neuroendocrine carcinoma (4.8%), and well-differentiated carcinoma (0.9%). The proportion of poorly differentiated adenocarcinoma showed a significant upward trend overall as well, peaking at 65.6% in 2022 and decreasing to 57.5% in 2023. Mucinous adenocarcinoma (or signet ring cell carcinoma) exhibited fluctuations with a first increase followed by a decrease: it peaked at 17.3% in 2018, dropped sharply to 8.4% in 2022, and rose back to 13.8% in 2023. The proportions of well-differentiated adenocarcinoma, moderately differentiated adenocarcinoma, and neuroendocrine tumors remained stable year by year. In terms of pathological staging, the overall proportions of gastric cancer at Stage 0, Stage I, Stage II, Stage III, and Stage IVa were 0.5%, 17.3%, 25.1%, 54.9%, and 2.3%, respectively. For Stage III, its proportion was 74.6% in 2013, which decreased to 46.4% by 2023. Stages I and II gastric cancer showed an upward trend, with their proportions rising from 10.2% and 12.1% in 2013 to nearly 21.0% and 29.6% in 2023, respectively. Between 2013 and 2023, the proportion of patients who received surgery alone continued to decrease, with this proportion dropping to 34.7% in 2023. In contrast, the number of patients who received adjuvant chemotherapy increased year by year, reaching 54.2% in 2023. Since 2017, the application of perioperative chemotherapy has gradually increased, rising to 11.1% in 2023. Immunotherapy showed an almost synchronous growth trend with perioperative chemotherapy. However, targeted therapy exhibited a downward trend after a period of growth. There were 10,704 cases of open surgery (68.4%), 4,744 cases of laparoscopic surgery (30.3%), and 193 cases of transthoracic surgery (1.2%). Pathological margin positivity was observed in 443 cases (2.8%), and the volume of gastric cancer surgeries gradually increased, peaked in 2021 before subsequently decreasing gradually. However, the volume of laparoscopic surgeries did not decrease; instead, it showed an upward trend. The main resection method for EGJ tumors was total gastrectomy, accounting for 78.5% of the total, followed by proximal gastrectomy, which accounted for 21.5%. After total gastrectomy, esophagojejunal Roux-en-Y anastomosis was the primary anastomotic method, and for proximal gastrectomy, the main anastomotic method was esophagogastric anastomosis, which accounted for 68.0% of the total. For distal gastrectomy, Billroth II anastomosis was the most common anastomotic technique, accounting for 92.7% of these procedures. The overall incidence of postoperative complications was 14.5% (2,264/15,644), among which the incidence of severe complications (grades III-IV) was 4.5% (706/15,644). The entire cohort was followed up with for (47.1±36.8) months, and the 1-year, 3-year, and 5-year overall survival rates were 86.4%, 65.9%, and 58.1%, respectively. For patients with stage 0, I, II, III, and IV gastric adenocarcinoma, the 1-year overall survival rates were 95.7%, 98.0%, 89.4%, 81.0%, and 49.1%, respectively; the 3-year overall survival rates were 92.1%, 94.6%, 81.9%, 51.4%, and 14.7%, respectively; and the 5-year overall survival rates were 89.4%, 91.7%, 75.1%, 41.5%, and 10.0%, respectively. For patients with stage I, II, III, and IV gastric neuroendocrine carcinoma, the 1-year overall survival rates were 96.7%, 91.1%, 73.8%, and 52.6%, respectively; the 3-year overall survival rates were 87.2%, 69.6%, 46.1%, and 32.1%, respectively; and the 5-year overall survival rates were 87.2%, 62.2%, 36.7%, and 32.1%, respectively.Conclusions:Gastric cancer in Shanxi Province is characterized by a male predominance, a high prevalence of tumors at the esophagogastric junction, a large proportion of poorly differentiated adenocarcinoma, and presentation at advanced stages (predominantly Stage III). The detection rate of early gastric cancer has been increasing year by year, the volume of laparoscopic surgeries has been on the rise annually, and the treatment model has shifted from single surgery to comprehensive treatment.

Background Currently,the diagnosis of depressive disorder relies on symptomatology,which is greatly influenced by subjective factors such as clinicians' experience.Finding more accurate and reliable quantitative diagnostic methods is currently an urgent problem.Objective To explore the value of Fisher discriminant function based on inflammatory cytokines in the diagnosis of depressive disorder,so as to provide references for clinical diagnosis.Methods A total of 136 patients diagnosed with depressive disorder according to the Diagnostic and Statistical Manual of Mental Disorders,fifth edition(DSM-5)criteria,who underwent inpatient treatment at Hebei Mental Health Center from April 2020 to November 2020,were enrolled as study group.67 healthy participants matched for age and gender,was recruited during the same period.Serum levels of inflammatory cytokine were measured using enzyme-linked immunosorbent assay(ELISA).Fisher discriminant model was employed to establish a discriminant function for inflammatory cytokines exhibiting significant statistical differences between study group and control group,which was then validated.Results The levels of pro-inflammatory cytokines interleukin-1β(IL-1β),interleukin-6(IL-6),interferon-γ(INF-γ)and tumor necrosis factor-α(TNF-α)were higher in the study group compared with control group,with statistically significant differences(U=9.115,5.239,4.431,5.428,P<0.01).Conversely,the levels of anti-inflammatory cytokines interleukin-4(IL-4),interleukin-10(IL-10)and interleukin-13(IL-13)were lower in the study group compared with control group,with statistically significant differences(U=7.398,7.331,7.614,P<0.01).The retrospective test in Fisher discriminant function achieved a correct discrimination rate of 89.66%,and the cross validation achieved a correct discrimination rate of 88.67%.Conclusion The Fisher discriminant function developed in this study may serve as a valuable auxiliary method in the diagnosis of depressive disorder.

Antipyretic-analgesics are currently one of the most prescribed drugs in children.The clinical application of antipyretic-analgesics for children in our country still have irrational phenomenon, which affects the therapeutic effect and even poses hidden dangers to the safety of children.In this paper, suggestions were put forward from the indications, dosage form/route, dosage suitability, pathophysiological characteristics of children with individual differences and drug interactions in the symptomatic treatment of febrile children, so as to provide reference for the general pharmacists when conducting prescription review.

Objective:To explore the clinical features, follow-up characteristics and prognosis of rheumatic disease complicated with pulmonary arterial hypertension (PAH) in children, and to provide support for its clinical diagnosis and treatment.Methods:A retrospective analysis was conducted on the data of rheumatic 24 patients complicated with PAH hospitalized in the Department of Rheumatology and Immunology, Children′s Hospital Affiliated to the Capital Institute of Pediatrics, Department of Rheumatology and Immunology, Jiangxi Children′s Hospital, Department of Pediatrics Ⅰ, the First Affiliated Hospital of Zhengzhou University and Department of Pediatrics, the Affiliated Hospital of Inner Mongolia Medical University from January 2013 to June 2022.The rheumatic patients complicated with PAH were followed up by telephone on June 30, 2022, and their clinical symptoms, treatment, follow-up, and prognosis data were collected.According to different treatment methods, the patients were divided into different clinical subgroups. The change of PAH was analyzed. The t-test was used for comparison between groups. P<0.05 was statistically significant. Results:A total of 24 cases were enrolled, with 7 males and 17 females.The average onset age of PAH was (10.97±3.79) years old.The median duration of PAH was 6.00 (32.20) months.The average pulmonary artery pressure was (51.71±17.66) mmHg(1 mmHg=0.133 kPa). There were 9 cases of systemic lupus erythematosus, 5 cases of Takayasu′s arteritis, 3 cases of juvenile dermatomyositis, 3 cases of undifferentiated connective tissue disease, 2 cases of systemic juvenile idiopathic arthritis, 1 case of Behcet′s disease, and 1 case of Kawasaki disease.Among 24 cases, the common symptoms were fever (14 cases), fatigue (10 cases) and dyspnea (7 cases). Of the 24 cases, 10 cases were complicated with hydropericardium, 9 cases with valve regurgitation, and 5 cases with decreased systolic and/or diastolic function.Lung changes were observed in 17 cases.Eleven cases were tested for B-type natriuretic peptide (BNP), and the BNP levels were all elevated in them (11 cases), with a median BNP of 3 073 (10 645) ng/L.After the first occurrence of PAH, 12 cases were treated with Methylprednisolone therapy, 10 cases received Cyclophosphamide therapy, and 2 cases who were both systemic lupus erythematosus, underwent blood purification.In the treatment of PAH, 11 cases were treated with pulmonary artery pressure reduction, and 7 of the 11 cases took PAH-targeted drugs.The mean decrease of the average pulmonary artery pressure in children receiving the targeted therapy[(44.80±24.08) mmHg] was significant higher than that in children not receiving the targeted therapy [(16.15±17.25) mmHg] ( t=2.661, P=0.016). Twenty children were reexamined and/or followed up, and the average course of PAH at the telephone follow-up was (36.29±26.67) months.The pulmonary arterial hypertension in 6 cases completely recovered, with median recovery time of 8.00 (13.47) months, but 2 of them died after the complete recovery.The pulmonary arterial hypertension improved in 11 children, 1 of whom died and the remaining children were in stable condition.The pulmonary arterial hypertension worsened in 2 children, 1 of them improved previously but aggravated recently, and the other child did not monitor pulmonary artery pressure and died during telephone follow-up. Conclusions:Rheumatic diseases complicated with PAH are rare and most often diagnosed in severe rheumatic children.It can lead to death, and is commonly accompanied by notably elevated BNP levels.The patients who have early PAH detection, intensive treatment of the primary disease, symptomatic and targeted pulmonary artery pressure reduction show a better prognosis.

One hundred and nine consecutive coronary heart disease (CHD) patients with obstructive sleep apnea (OSA) undergoing percutaneous coronary intervention (PCI) during February 2016 to August 2018 were enrolled in the study. After treatment the quality of sleep was improved in 35 cases (observation group) and was not improved in 74 patients (control group). The basic characteristics, coronary lesions of patients were compared between two groups. Compared with the control group, patients in observation group had significant higher proportion of males [80.0%(28/35) vs. 59.5%(44/74), χ²=4.471, P=0.035], smoking history [85.7% (30/35) vs. 63.5% (47/74), χ²=5.647, P=0.018], lower body mass index [(25.8±3.1) kg/m² vs. (27.4±3.2) kg/m², t=2.461, P=0.033]. Compared with control group, the observation group had lower coronary Gensini score[(35.4±5.7) vs. (38.7±6.5), t=2.571, P=0.011], less number of stent[ (1.4±0.4) vs. (1.6±0.4), t=2.427, P=0.016]. And the lesions were mostly distributed in the right coronary artery in observation group (61.9%, 26/35) (χ²=11.759, P=0.003).Conclusion The improvement of sleep quality by PCI depends on the clinical features and coronary artery lesions of CHD patients with OSA.

Echinococcus granulosus is an important zoonotic parasite globally causing cystic echinococcosis (CE) in humans and animals. In this study, prevalence of CE and variation of cox1 gene sequence were analyzed with isolates E. granulosus collected from different areas in northern Xinjiang, China. The survey showed that 3.5% of sheep and 4.1% of cattle were infected with CE. Fragment of cox1 was amplified from all the positive sheep and cattle samples by PCR. In addition, 26 positive samples across the 4 areas were included. The isolates were all E. granulosus sensu stricto (s.s.) containing 15 haplotypes (Hap1-15), and clustered into 2 genotypes, G1 (90.1%, 91/101) and G3 (9.9%, 10/101). Hap1 was the most common haplotype (48.5%, 49/101). Hap9 were found in humans samples, indicating that sheep and cattle reservoir human CE. It is indicate that E. granulosus may impact on control of CE in livestock and humans in the region.
Animals ; Cattle ; China ; Cross-Sectional Studies ; Echinococcosis ; Echinococcus granulosus ; Echinococcus ; Genotype ; Haplotypes ; Humans ; Livestock ; Parasites ; Polymerase Chain Reaction ; Prevalence ; Sheep

Objective To explore the diagnosis and treatment of atypical severe combined immunodeficiency disease (SCID). Methods The clinical data of atypical SCID in 7 children with IL2RG,JAK3,and RAG1 mutations were reviewed and analyzed from September 2012 to June 2017. Results In 7 cases (6 males and 1 female), there were 5 infants, 1 toddler and 1 school-age child. Cases 2, 4, and 6 were classic SCID clinical phenotypes. Cases 1, 3, 5, 7 were atypical SCID clinical phenotypes. Case 6 were diagnosed with Omenn syndrome. Cases 2, 5 were classic SCID immune phenotypes, cases 1, 3, 4, 6, 7 were atypical SCID immune phenotypes, and case 1 had maternal chimera. The next generation sequencing indicated that case 1 had a compound heterozygous JAK3 mutation with c.3097-1G>A/c.946-950GCGGA>ACinsGGT.Cases 2,3,and 4 had IL2RG mutations,with c.865C>T/p.R289X,c.664C>T/R222C,52delG,respectively.Case 5 had JAK3 mutations with c.2150A>G/p.E717G and c.1915-2A>G.Sanger sequencing indicated that case 6 had a RAG1 mutation of complex heterozygosity with c.994C>T/p.R332X and c.1439G>A/p.S480N. Case 7 had homozygous RAG1 mutation with c.2095C>T/p.R699W.Conclusion Under certain conditions,gene mutation can lead to atypical clinical and/or immune phenotypic SCID.