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[PMID]: 29524085
[Au] Autor:Han XJ; Su DH; Yi JY; Zou YW; Shi YL
[Ad] Address:Graduate School, Southern Medical University, Guangzhou, 510515, China. hanxiujing@sina.com.
[Ti] Title:A Literature Review of Blood-Disseminated P. marneffei Infection and a Case Study of this Infection in an HIV-Negative Child with Comorbid Eosinophilia.
[So] Source:Mycopathologia;, 2018 Mar 09.
[Is] ISSN:1573-0832
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: The typical manifestations of Penicillium marneffei (nowadays Talaromyces marneffei) infection in children without human immunodeficiency virus (HIV) remain unclear. The current work presents the case of a child without an underlying disease who was infected with P. marneffei comorbid with eosinophilia. CASE PRESENTATION: A 2-year-old male was infected with P. marneffei. A physical examination revealed a high-grade fever, ulcerated lesions in the oral mucosa, anemia, pruritic erythematous papules on the sac and thigh and watery diarrhea. A chest enhanced computed tomography scan showed multiple small, nodular, high-density shadows in the lungs, multiple lymphadenectasis in the hilum of the lungs and mediastinum, and liquid in the right pleural cavity. The patient's plasma was negative for HIV. Routine blood tests initially indicated that the patient had leucopenia; however, later tests indicated that he had leukocytosis. This peak was caused by a significant increase in eosinophils. The total IgE and specific allergen levels were normal. The stool was negative for parasite eggs. Aspergillus antigen (galactomannan, GM) levels were significantly increased and were present in the serum for a relatively long period. CONCLUSIONS: Eosinophilia can occur during P. marneffei infection, and this finding might provide additional information on the activity of this intracellular parasite. In addition, GM detection might be useful for monitoring the effect of antifungal treatments; however, this theory requires more data for verification.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher
[do] DOI:10.1007/s11046-018-0255-8

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[PMID]: 29523179
[Au] Autor:Ralapanawa DMPUK; Kumarihamy KWMPP; Sundararajah M; Jayalath WATA
[Ad] Address:Department of Medicine, University of Peradeniiya, Peradeniya, Sri Lanka. udayapralapanawa@yahoo.com.
[Ti] Title:A young female presenting with heart failure secondary to eosinophilic myocarditis: a case report and review of the literature.
[So] Source:BMC Res Notes;11(1):168, 2018 Mar 09.
[Is] ISSN:1756-0500
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Eosinophilic myocarditis is one of the fatal complications of idiopathic hypereosinophilic syndromes. Given the rarity of this form of myocarditis, it is often under-recognized. We describe a young girl who presented with features of heart failure. To our knowledge, this is the first reported case of eosinophilic myocarditis in a young Sri Lankan female. CASE PRESENTATION: A previously healthy 21 year old Sri Lankan female admitted with shortness of breath for 1 week duration with associated low grade fever and profuse sweating. She was mildly febrile and dyspnoeic with absent ankle oedema. She was tachycardic and had elevated Jugular venous pressure with negative Kussmaul sign. Blood pressure was 100/70 mmHg. Clinically there was no cardiomegaly and heart sounds were slightly muffled with gallop rhythm. Bilateral basal fine end inspiratory crackles and mild hepatosplenomegaly were noted. The laboratory examinations showed leucocytosis with severe eosinophilia with no abnormal cells. Her ESR, Troponin I and Brain natriuretic peptide were elevated with normal CRP and electrocardiogram showed sinus tachycardia with wide spread ST depression. Heart failure was evident on chest X-ray and 2D-echocardiogram showed global left ventricular hypokinesia with 40% ejection fraction and a thin layer of pericardial effusion. Mild hepatosplenomegaly without lymphadenopathy was detected in the ultrasound scan. Bone marrow biopsy showed hypereosinophilia with no evidence of bone marrow infiltration. FIP1L1-PDGFRA fusion transcript and BCR-ABL transcript were not detected. Secondary causes for hypereosinophilia were excluded and the diagnosis of idiopathic hypereosinophilic syndrome and eosinophilic myocarditis was made. She had good response to steroids clinically and biochemically with complete recovery of left ventricular function. She is now on steroid to be continued at least 6 months to 1 year. CONCLUSION: Eosinophilic myocarditis is a rare but fatal disease if left untreated. Hence clinicians should have high index of suspicion to diagnose eosinophilic myocarditis in clinical context of heart failure due to myocarditis. The diagnoses of eosinophilic myocarditis may often be challenged especially in a poor recourse setting. However available investigation should be used to diagnose this condition without delay. Early treatment with systemic steroids may prevent fatal outcome and therapies for this disease have yet to be validated in large prospective studies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Process
[do] DOI:10.1186/s13104-018-3273-1

  3 / 25554 MEDLINE  
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[PMID]: 29522849
[Au] Autor:Ha SG; Dileepan M; Ge XN; Kang BN; Greenberg YG; Rao A; Muralidhar G; Medina-Kauwe L; Thompson MA; Pabelick CM; O'Grady SM; Rao SP; Sriramarao P
[Ad] Address:Department of Veterinary & Biomedical Sciences, University of Minnesota, St. Paul, Minnesota.
[Ti] Title:Knob protein enhances epithelial barrier integrity and attenuates airway inflammation.
[So] Source:J Allergy Clin Immunol;, 2018 Mar 06.
[Is] ISSN:1097-6825
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Altered epithelial physical and functional barrier properties along with Th1/Th2 immune dysregulation are features of allergic asthma. Regulation of junction proteins to improve barrier function of airway epithelial cells has the potential for alleviation of allergic airway inflammation. OBJECTIVE: To determine the immunomodulatory effect of knob protein of the adenoviral capsid on allergic asthma and investigate its mechanism of action on airway epithelial junction proteins and barrier function. METHODS: Airway inflammation including junction protein expression was evaluated in allergen-challenged mice with and without treatment with knob. Human bronchial epithelial cells (Hu-BEC) were exposed to knob and its effect on expression of junction proteins and barrier integrity were determined. RESULTS: Administration of knob to allergen-challenged mice suppressed airway inflammation (eosinophilia, airway hyperresponsiveness, IL-5 levels) and prevented allergen-induced loss of airway epithelial occludin and E-cadherin expression. Additionally, knob decreased expression of Th2-promoting inflammatory mediators, specifically IL-33, by murine lung epithelial cells. At a cellular level, treatment of Hu-BEC with knob activated JNK, increased expression of occludin and E-cadherin and enhanced epithelial barrier integrity. CONCLUSION: Increased expression of junction proteins mediated by knob leading to enhanced epithelial barrier function may mitigate allergen-induced airway inflammatory response including asthma.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  4 / 25554 MEDLINE  
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[PMID]: 29484748
[Au] Autor:Peurala E; Tuominen M; Löyttyniemi E; Syrjänen S; Rautava J
[Ad] Address:Department of Oral Pathology and Oral Radiology, Institute of Dentistry, Faculty of Medicine, University of Turku, Turku, Finland.
[Ti] Title:Eosinophilia is a favorable prognostic marker for oral cavity and lip squamous cell carcinoma.
[So] Source:APMIS;126(3):201-207, 2018 Mar.
[Is] ISSN:1600-0463
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Eosinophils are frequently encountered with squamous cell carcinomas (SCC) and it has been proposed that tumor-associated tissue eosinophilia (TATE) could be of prognostic significance in oral SCC. The aim was to evaluate TATE in 83 oral cavity and 16 lip SCCs as well as the best possible use of TATE as a prognostic marker. The number of eosinophils was counted per high power fields (HPF, ×400) in three different representative areas of the tumor and its stroma. The degree of TATE was analyzed in relation to clinicopathological features of tumors and patients' survival (follow-up mean 40.7 months) using Fisher's exact test. TATE was detected in 58 (70%) oral and 8 (50%) lip SCC samples. The median number of eosinophils between oral and lip SCC was different (p = 0.028) but TATE was similar per HPF (p = 0.085). Totally, 6% of lip and 21% of oral SCC patients died during the follow-up. The patients with the higher TATE had significantly better survival than the patients with the lower TATE (p = 0.0136). The best cut-off value predicting the survival was 4 eosinophils/HPF. TATE is a prognostic marker for oral and lip SCC: more than 4 eosinophils/HPF may predict more favorable prognosis.
[Mh] MeSH terms primary: Carcinoma, Squamous Cell/pathology
Eosinophilia/pathology
Eosinophils/pathology
Lip Neoplasms/pathology
Lip/pathology
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Alcohol Drinking/adverse effects
Biomarkers, Tumor/metabolism
Carcinoma, Squamous Cell/mortality
Disease-Free Survival
Eosinophils/cytology
Female
Humans
Leukocyte Count
Lip Neoplasms/mortality
Male
Middle Aged
Retrospective Studies
Smoking/adverse effects
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers, Tumor)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180228
[St] Status:MEDLINE
[do] DOI:10.1111/apm.12809

  5 / 25554 MEDLINE  
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[PMID]: 29248734
[Au] Autor:Wechsler JB; Bolton S; Amsden K; Wershil BK; Hirano I; Kagalwalla AF
[Ad] Address:Northwestern University Feinberg School of Medicine, Chicago, Illinois; Eosinophilic Gastrointestinal Diseases Program, Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
[Ti] Title:Eosinophilic Esophagitis Reference Score Accurately Identifies Disease Activity and Treatment Effects in Children.
[So] Source:Clin Gastroenterol Hepatol;, 2017 Dec 15.
[Is] ISSN:1542-7714
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND & AIMS: The endoscopic reference score (EREFS) is used to determine severity of 5 endoscopic findings: edema, rings, exudates, furrows, and strictures. Little is known about the relationship between EREFSs and histologic markers of disease activity in children with eosinophilic esophagitis (EoE). We aimed to determine whether the EREFS can be used to identify children with EoE and how it changes with treatment. METHODS: We performed a prospective study of consecutive children (ages 2-17 years) undergoing diagnostic or post-treatment endoscopy scored real-time with EREFS from December 2012 through 2016. Findings from 192 diagnostic endoscopies and 229 post-treatment endoscopies were evaluated, from 371 children. Incident EoE cases were diagnosed based on 2011 consensus guidelines. Patients were treated with either elimination diet or topical steroids. Subjects who underwent endoscopy for symptoms of esophageal dysfunction but had normal esophageal findings from histology analysis were used as controls. EREFS and receiver operating characteristic curves were determined for incident EoE cases (n = 77) vs controls (n = 115), patients with active EoE (n = 101) vs inactive EoE after treatment (n = 128), and paired pre- and post-treatment cases of EoE (n = 85). Component and composite scores were correlated with eosinophilia. RESULTS: Visual detection of more than 1 esophageal abnormality during the diagnostic endoscopy identified children with EoE with 89.6% sensitivity and 87.9% specificity. EREFS correlated with peak level of eosinophilia (P < .001) at all esophageal levels. Children who responded to therapy had mean EREFSs of 0.5 compared to 2.4 in non-responders. In comparing pre-treatment vs post-treatment data from 85 patients, we found a significant reduction in the composite EREFS (from 2.4 to 0.7) (P < .001) among patients who responded to treatment; 92% of responders had a reduced EREFSs after treatment. EREFSs identified children with EoE with an area under the curve value (AUC) of 0.93. EREFSs identified children with active EoE following treatment with an AUC of 0.81 before treatment and an AUC of 0.79 after treatment. CONCLUSIONS: In a prospective study of children undergoing diagnostic or post-treatment endoscopy, we found the EREFS to accurately identify those with EoE. Children who responded to therapy had lower EREFS scores than non-responders. EREFSs can be used to measure outcomes of pediatric patients, in conjunction with histology findings, and assess treatments for children with EoE.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  6 / 25554 MEDLINE  
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[PMID]: 29247697
[Au] Autor:Vikhe S; Nirmal S
[Ad] Address:Department of Pharmacognosy, Pravara Rural College of Pharmacy, Loni 413736, Maharashtra, India. Electronic address: sunainavikhe@gmail.com.
[Ti] Title:Antiallergic and antihistaminic actions of Ceasalpinia bonducella seeds: Possible role in treatment of asthma.
[So] Source:J Ethnopharmacol;216:251-258, 2018 Apr 24.
[Is] ISSN:1872-7573
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:ETHNOPHARMACOLOGICAL RELEVANCE: Seed kernel of the plant Ceasalpinia bonducella Linn (Caesalpiniacaeae) are used for the treatment of asthma in folk medicine and ancient books. AIM OF STUDY: To assess the pharmacological efficacy of the plant in asthma and to confine and describe the synthetic constituents from the seeds that are in charge of the action. MATERIAL AND METHODS: The viability of petroleum ether, ethanol extract and ethyl acetate fraction from ethanol extract of C. bonducella seeds were screened for the treatment of asthma by various methods viz. effect of test drug on clonidine and haloperidol induced catalepsy, milk-induced leukocytosis and eosinophilia, mast cell stabilizing activity in mice and studies on smooth muscle preparation of guinea pig ileum (in-vitro). Column chromatography of active extract was done to pinpoint the active compound followed by structure elucidation by FTIR, GCMS and NMR spectroscopic methods. RESULTS: Ethyl acetate fraction from ethanol extract of C. bonducella seeds exhibited antihistaminic activity at the dose of 50 and 100 mg/kg, inhibited clonidine-induced catalepsy but not haloperidol-induced catalepsy. Ethyl acetate fraction from ethanol extract significantly inhibited increased leukocyte and eosinophil count due to milk allergen and showed maximum protection against mast cell degranulation by clonidine. The results of guinea pig ileum indicated that the compound 2 methyl, 1 hexadecanol isolated from ethyl acetate fraction of ethanol extract relaxed significantly the ileum muscle strips pre-contracted by which suggests the involvement of ß -agonists on the relaxation of the tissue. All the results are dose dependent. Active ethyl acetate fraction from ethanol extract showed presence of anti-asthmatic compound, 2-methyl, 1-hexadecanol. CONCLUSION: The ethyl acetate fraction from ethanol extract of seeds of the plant C. bonducella can inhibit parameters linked to asthma disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Process

  7 / 25554 MEDLINE  
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[PMID]: 29200850
[Au] Autor:Aliu H; Rask C; Brimnes J; Andresen TL
[Ad] Address:Immunology Department, In vivo Biology Team, ALK Abelló A/S, Hørsholm.
[Ti] Title:Enhanced efficacy of sublingual immunotherapy by liposome-mediated delivery of allergen.
[So] Source:Int J Nanomedicine;12:8377-8388, 2017.
[Is] ISSN:1178-2013
[Cp] Country of publication:New Zealand
[La] Language:eng
[Ab] Abstract:Immunotherapy by sublingual administration of allergens provides high patient compliance and has emerged as an alternative to subcutaneous immunotherapy for the treatment of IgE-associated allergic diseases. However, sublingual immunotherapy (SLIT) can cause adverse events. Development of allergen delivery systems enabling more efficient delivery and hence lower allergen load might reduce the adverse events. In the present study, we have investigated neutral and cationic liposomes as delivery systems of ovalbumin (OVA), as a model allergen, in an OVA-induced allergic airway inflammation model. We investigated the liposome carriers' ability to improve tolerance induction of antigens compared to the corresponding dose of free OVA. Mice were treated sublingually over 2 weeks with free or liposome encapsulated OVA followed by intraperitoneal injections and intranasal challenge. Mice sublingually treated with OVA-liposomes showed a significant reduction of airway eosinophilia and splenocyte proliferation in comparison to free OVA. A similar nonsignificant pattern was seen for OVA-specific IgE antibodies. In addition, reduced levels of interferon-γ and interleukin-5 were observed in spleen cell culture supernatants from OVA-liposome-treated mice compared to the sham-treated group. In conclusion, in vivo efficacy data showed that prophylactic SLIT with OVA-liposomes is significantly more effective in preventing allergic inflammation than the corresponding dose of free OVA.
[Mh] MeSH terms primary: Allergens/administration & dosage
Drug Delivery Systems
Sublingual Immunotherapy
[Mh] MeSH terms secundary: Allergens/immunology
Animals
Cytokines/metabolism
Enzyme-Linked Immunosorbent Assay
Female
Lipids/chemistry
Liposomes
Mice, Inbred BALB C
Ovalbumin/immunology
Pneumonia/immunology
Pneumonia/pathology
Pneumonia/prevention & control
Spleen/immunology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Allergens); 0 (Cytokines); 0 (Lipids); 0 (Liposomes); 9006-59-1 (Ovalbumin)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:171205
[St] Status:MEDLINE
[do] DOI:10.2147/IJN.S137033

  8 / 25554 MEDLINE  
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[PMID]: 29521632
[Au] Autor:Yang F; Chen SA; Wu X; Zhu Q; Luo X
[Ad] Address:Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, China.
[Ti] Title:Overexpression of cytotoxic proteins correlates with liver function impairment in patients with drug reaction with eosinophilia and systemic symptoms (DRESS).
[So] Source:Eur J Dermatol;28(1):13-25, 2018 Feb 01.
[Is] ISSN:1952-4013
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Drug reaction with eosinophilia and systemic symptoms (DRESS) is characterised by skin rash and multivisceral involvement. The liver is the organ most frequently affected and the degree of liver function impairment often correlates with the mortality rate of DRESS. We aimed to examine the expression of cytotoxic proteins, including soluble Fas ligand (sFasL), TNF-α, granulysin, perforin, and granzyme B in the sera and skin lesions of patients with DRESS and evaluate their clinical significance. Our cohort consisted of 21 patients with DRESS and control groups including 39 patients with Stevens-Johnson syndrome/toxic epidermal necrolysis, 21 patients with maculopapular eruption, and 29 normal controls. Concentrations of cytotoxic proteins in the sera were measured using enzyme-linked immunosorbent assays. Tissue samples were also obtained from typical skin lesions, and immunohistochemical staining was conducted to assess the local expression of cytotoxic proteins. We found that sFasL and granzyme B were significantly overexpressed in the sera of DRESS patients compared to normal controls. Furthermore, the levels of sFasL, perforin, and granzyme B significantly correlated with the serum level of liver enzymes in DRESS patients. Immunohistochemical examination also showed overexpressed cytotoxic proteins in cutaneous DRESS lesions. Cytotoxic proteins may play a vital role in the pathogenesis of DRESS, and serum sFasL, perforin, and granzyme B may also be involved in liver function impairment in DRESS patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process
[do] DOI:10.1684/ejd.2017.3211

  9 / 25554 MEDLINE  
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[PMID]: 29519170
[Au] Autor:Behera SK; Das S; Xavier AS; Selvarajan S
[Ad] Address:a Department of Clinical Pharmacology , Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER) , Puducherry , India.
[Ti] Title:DRESS syndrome: a detailed insight.
[So] Source:Hosp Pract (1995);, 2018 Mar 08.
[Is] ISSN:2154-8331
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a serious and potentially fatal adverse effect to therapeutic medications. The incidence of this condition varies among different ethnicities because of the difference in the genetic makeup. Though fever, rash and eosinophilia are essential features for the diagnosis of this syndrome, these vary from patient to patient along with the involvement of various organs such as liver, kidney, lungs, pancreas, etc. Some of the atypical features are dysphagia, agranulocytosis, and chylous ascites. Phenytoin, phenobarbitone, carbamazepine, and allopurinol are the most common drugs responsible for developing this syndrome, although the list is fairly long. Among the criteria used for the diagnosis of DRESS syndrome, European Registry of Severe Cutaneous Adverse Reactions to Drugs and Collection of Biological Samples (RegiSCAR) criteria is the most commonly used one. The management of this syndrome involves early removal of the causative agent and treatment with anti-histamines and emollients in the mild form, corticosteroids in the moderate form and plasmapheresis in the severe form along with other alternatives drugs. Healthcare professionals should be more vigilant about the early manifestations of this syndrome, as early diagnosis and treatment improve outcomes considerably.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1080/21548331.2018.1451205

  10 / 25554 MEDLINE  
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[PMID]: 29518828
[Au] Autor:Yu G; Wang WJ; Liu DR; Tao ZF; Hui XY; Hou J; Sun JQ; Wang XC
[Ad] Address:Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai 201102, China.
[Ti] Title:[Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].
[So] Source:Zhonghua Er Ke Za Zhi;56(3):186-191, 2018 Mar 02.
[Is] ISSN:0578-1310
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:To investigate the clinical characteristics of 8 immunodeficiency cases caused by human recombination activating gene 1 (RAG1) mutations, and to explore the relationship among genotypes, clinical manifestations and immunophenotypes. Clinical data were collected and analyzed from patients with RAG1 mutations who visited the Department of Clinical Immunology, Children's Hospital of Fudan University between October 2013 and June 2017. The data included clinical manifestations, immunophenotypes and genotypes. A total of 8 patients were diagnosed with RAG1 deficiency (6 boys and 2 girls). The minimum age of onset was 2 months, and the maximum age was 4 months. The minimum age of diagnosis was 2 months, and the maximum age was 13 years. Four patients had a family history of infant death due to severe infections. Two cases were born to the same consanguineous parents. All cases had recurrent infections, including involvement of respiratory tract (8 cases), digestive tract (6 cases), urinary tract (1 case), and central nervous system (1 case). The pathogens of infection included bacteria, viruses and fungi. Rotavirus was found in 3 cases, cytomegalovirus (CMV) in 5 cases, bacillus Calmette-Guérin adverse reaction in 2 cases (1 of whom had a positive acid-fast smear from lymph node puncture fluid), fungal infection in 3 cases. One case had multiple nodular space-occupying lesions in lungs and abdominal cavity complicated with multiple bone destruction. The peripheral blood lymphocyte counts of all patients ranged between 0.1 ×10(9)/L and 3.3×10(9)/L (median, 0.65×10(9)/L). Eosinophilia was found in 3 cases (range, (0.48-1.69) ×10(9)/L). The patients were classified according to immunophenotype as severe combined immunodeficiency phenotype (4 cases), leaky severe combined immunodeficiency (2 cases), Omenn syndrome (1 case) and combined immunodeficiency (1 case) . Decreased serum IgG levels were found in 3 cases, increased serum IgM levels in 3 cases, increased serum IgE levels in 5 cases. RAG1 homozygous mutations were detected in 5 cases and RAG1 compound heterozygous mutations in 3 cases. Two novel mutations and six previously reported mutations were identified. Three cases were successfully treated with hematopoietic stem cell transplantation. Four cases died due to infections, and the 13 year-old patient was still under follow-up in the outpatient clinic. Different RAG1 gene mutations can lead to diverse clinical presentations and immune phenotypes. Clinicians should pay attention to the family history of infant death with severe infection. In that situation, immunological evaluation and gene detection should be performed as early as possible.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process
[do] DOI:10.3760/cma.j.issn.0578-1310.2018.03.007


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