Xiao-dong Zhao

Chongqing Medical University, Ch’ung-ch’ing-shih, Chongqing Shi, China

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Publications (44)49.26 Total impact

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    ABSTRACT: Mutations within the ELANE gene, which encodes human neutrophil elastase, are the most common genetic causes of severe congenital neutropenia (SCN). No cases of SCN have been previously described from a Chinese population. Herein, we describe the clinical, hematologic, and molecular characteristics of seven Chinese SCN cases with novel ELANE mutations.
    The Pediatric Infectious Disease Journal 08/2014; · 3.14 Impact Factor
  • Zhao-Long Chen, Yun-Fei An, Xiao-Dong Zhao
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    ABSTRACT: MonoMAC syndrome is a newly discovered immune deficiency syndrome caused by GATA-2 mutation, which is an autosomal dominant genetic disease. MonoMAC syndrome has typical immune cell abnormalities, with severe infection and is prone to develop into a hematological disease. Therapeutics for this disease mainly relies on symptomatic treatment and hematopoietic stem cell transplantation. In this paper, the research advances in clinical manifestations, laboratory tests, pathogenesis, diagnosis and treatment of MonoMAC syndrome are reviewed.
    08/2014; 16(8):869-873.
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    ABSTRACT: Chronic granulomatous disease (CGD) is an inherited disorder, with phagocytes failing to produce antimicrobial superoxide due to deficient NADPH oxidase activity. Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases. To date, there have been no reports on large samples of children with CGD in China. Therefore, in this study, we described the clinical and molecular features of 38 suspected CGD patients from 36 unrelated Chinese families.
    Journal of Clinical Immunology 06/2014; · 2.65 Impact Factor
  • Mao-Zhi Tang, Ying Dou, Xiao-Dong Zhao
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    ABSTRACT: Numerous studies have indicated that human metapneumovirus (hMPV) is an important viral pathogen in acute respiratory infections in children, presenting similar manifestations with respiratory syncytial virus (RSV). HMPV infection peaks in the winter-spring season and is more prevalent in younger ages, especially in children less than 1 year old. Host innate immune response has been implicated in recognition of pathogen-associated molecular patterns (PAMPs) of the virus. This recognition occurs through host pattern recognition receptors (PRRs). Toll like receptors (TLRs) are one of the largest class of PRRs which initiate and regulate adaptive immune responses. Some studies have indicated that TLR 3 and TLR 4 may play critical roles in hMPV infection. Construction of recombinant mutant viruses lacking one or two N-linked glycosylation sites in the F protein by using site-directed mutagenesis and reverse genetics may be helpful for developing attenuated live vaccines.
    05/2014; 16(5):548-554.
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    ABSTRACT: Type 1 Hyper-IgM syndrome (HIGM1) is a rare primary immunodeficiency disease caused by mutations in the CD40L gene. Patients often present with recurrent infections and autoimmune manifestations. We investigated the clinical and molecular characteristics of HIGM1 in thirteen patients from the Chinese mainland and examined the proportion of CD4+CD25+FoxP3+Treg, Th17, and Th1 cells in the peripheral blood. We identified ten distinct CD40L mutations in eleven patients: one missense mutation, one nonsense mutation, one insertion mutation (in frame), and seven deletions. Six of these mutations were novel. We observed the percentage of Tregs in the peripheral blood of HIGM1 patients decreased markedly compared with that in healthy controls, but no statistically significant differences was found in the percentages of Th17 and Th1. The identified mutations reflect the heterogeneity of the CD40L gene in HIGM1. Precise genetic diagnosis of HIGM1 will enable appropriate therapeutic interventions, reliable detection of carriers, and genetic counseling. Skewed Treg, Th17/Treg, and Th1/Treg profiles may be associated with immune responses to autoimmunity or infection, which requires replication in larger studies.
    Human immunology 04/2014; · 2.55 Impact Factor
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    ABSTRACT: Respiratory syncytial virus (RSV) and human metapneumovirus (hMPV) are common causes of respiratory infections in children. Diseases caused by hMPV are generally considered to be less severe than those caused by RSV; the underlying mechanisms, however, remain unknown. In the present study, the expressions of TLRs in airway epithelial cells and lungs of BALB/c mice infected by hMPV or RSV were measured in an attempt to explore the differences in the airway inflammation caused by the two viruses. Our results demonstrate that both hMPV and RSV infection upregulated the expressions of TLRs and inflammatory cytokines. Specifically, the TLR3 expression was revealed to be elevated in vitro and in mouse lungs. IFN-α produced by A549 cells after RSV or hMPV infection remained undistinguishable, whereas production of TNF-α was significantly higher after RSV infection than hMPV infection either in the presence or absence of Poly I:C. This study provides a clue that more severe clinical syndrome of RSV infection may be due to the greater magnitude of induction of airway inflammation by RSV involving TLR3 activation and production of TNF-α.
    PLoS ONE 09/2013; 8(9):e73488. · 3.53 Impact Factor
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    ABSTRACT: METHODS:: Two hundred and three children with genetically proven primary immunodeficiency diseases (PIDs) from 197 unrelated families were enrolled from January 2005 to December 2011. RESULTS:: On the basis of criteria developed by the International Union of Immunological Societies, 79 patients were diagnosed as 'other well-defined immunodeficiency syndromes' (38.9%), 62 (30.6%) with 'predominant antibody deficiencies', 26 (12.8%) with 'congenital defects of phagocyte', 25 (12.3%) with 'T- and B-cell immunodeficiency' and 11 (5.4%) with 'diseases of immune dysregulation'. The median time to the diagnosis was 27.9 months and the patients had a wide range of clinical presentations. In addition, a total of 23 pathogenic genes were identified and 213 mutations were detected, including 42 novel mutations. CONCLUSIONS:: With the increase in the awareness of PIDs and diagnostic competence, more PID patients will be diagnosed and we will be able to more accurately identify the frequency and the distribution of PIDs in the most populous country in the world.
    The Pediatric Infectious Disease Journal 05/2013; · 3.14 Impact Factor
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    ABSTRACT: To discuss the influence of intensive insulin therapy on insulin resistance of patients with severe burn or trauma. Sixty patients with severe burn or trauma hospitalized in the Third People's Hospital of Chongqing or Southwest Hospital of the Third Military Medical University from January 2010 to December 2011 were randomly divided into intensive insulin therapy group (IT, treated with intensive insulin therapy to control the blood glucose to the level of 6.0-8.0 mmol/L) and control group (C, treated with routine therapy) according to the paired grouping method, with 30 patients in each group. Before treatment and on post treatment day (PTD) 1, 3, 7, 10, 14, the levels of fasting blood glucose and fasting plasma insulin were determined. Insulin resistance index and β-cell function index were calculated using homeostasis model assessment. Data were processed with t test, analysis of variance, and LSD test. On PTD 1, 3, 7, 10, levels of fasting blood glucose in group IT [(6.8 ± 1.4), (6.7 ± 1.3), (5.8 ± 1.9), (5.4 ± 1.6) mmol/L] were significantly lower than those of group C [(14.8 ± 4.9), (12.7 ± 3.7), (7.7 ± 1.9), (6.6 ± 1.3) mmol/L, with t values respectively 12.453, 11.386, 5.563, 4.731, P < 0.05 or P < 0.01]. On PTD 3, 7, levels of fasting insulin in group IT [(14 ± 5), (10 ± 3) mU/L] were significantly lower than those of group C [(16 ± 4), (13 ± 4) mU/L, with t values respectively 4.212, 4.364, P values below 0.05]. Levels of fasting blood glucose and fasting insulin in the two groups at each time point were statistically significantly different from those before treatment (with P values below 0.01), except for the level of fasting blood glucose on PTD 3. On PTD 1, 3, 7, 10, levels of insulin resistance index in group IT (1.60 ± 0.80, 1.46 ± 0.70, 0.96 ± 0.21, 0.90 ± 0.23) were significantly lower than those in group C (2.15 ± 1.35, 2.21 ± 1.21, 1.50 ± 0.95, 1.17 ± 0.66, with t values respectively 8.316, 10.607, 7.825, 5.217, P < 0.05 or P < 0.01). Levels of insulin resistance index of patients in the two groups at each time point after treatment were significantly lower than those before treatment (with P values below 0.01). On PTD 1, 3, 7, levels of β-cell function index in group IT (4.6 ± 2.9, 4.5 ± 3.3, 4.5 ± 3.6) were significantly higher than those in group C (3.4 ± 2.5, 3.6 ± 2.2, 4.2 ± 2.5, with t values respectively 8.243, 7.914, 4.338, P < 0.05 or P < 0.01). Levels of β-cell function index in group C on PTD 1 and 3 were significantly lower than that before therapy (with P values below 0.05). Intensive insulin therapy can alleviate insulin resistance of patients with severe burn or trauma.
    Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns 04/2013; 29(2):181-4.
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    ABSTRACT: BACKGROUND: X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene mutation. XLA patients have an extremely small amount of peripheral B cells and profound deficiency in all immunoglobulin isotypes. We analyzed the clinical, immunologic, and molecular characteristics of children with XLA in an attempt to improve the diagnosis and treatment of XLA in China. METHODS: Twenty children with XLA-compatible phenotypes from 18 unrelated families were enrolled in this study. The BTK gene was amplified and sequenced, followed by mutation analysis in these children and their female relatives. RESULTS: Eighteen different mutations of the BTK gene were identified in the 20 patients. Eleven mutations had been reported previously including eight missense mutations (c.994C>T, c.1987C>A, c.1885G>T, c.502T>C, c.1085C>T, c.1816C>T, c.214C>T, c.1912G>A) and three nonsense mutations (c.1267T>A, c.1793C>G, c.1618C>T). Seven novel mutations of the BTK gene were also presented and included five missense mutations (c.134T>A, c.1646T>A, c.1829C>G, c.711G>T, c.1235G>A), one splice-site mutation (c.523+1G>A) and one insertion mutation (c.1024-1025in sTTGCTAAAGCAACTGCTAAAGCAAG). Eight out of 18 mutations of the BTK gene were located in the TK domain, 4 in the PH domain, 4 in the SH2 domain and 2 in the TH domain. Genetic study for carrier status was carried out in 18 families with definite BTK gene mutations. Nine carriers with BTK gene mutations were identified. Six families without carriers were detected, and 3 patients were not tested in this study. CONCLUSIONS: Our results support that molecular genetic testing represents an important tool for early confirmed diagnosis of congenital agammaglobulinemia and may allow accurate carrier detection and prenatal diagnosis.
    World Journal of Pediatrics 01/2013; · 1.08 Impact Factor
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    ABSTRACT: Human metapneumovirus (hMPV) is the main pathogen causing respiratory tract infection in susceptible populations, particularly in children and the elderly. Specimens were collected from hospitalized children with acute lower respiratory tract infections (ALRTI), and the hMPV was detected by using real-time reverse transcription-PCR (RT-PCR). The full-length G gene of hMPV was amplified by RT-PCR. A total of 1,410 nasopharyngeal aspirates (NPAs) were collected from April 2008 to March 2011, and 114 (10.2%) were positive for hMPV. Most hMPV-positive children were <5 years of age. The hMPV infection rate peaked in the spring-summer season of 2008 to 2009 and 2009 to 2010, while hMPV circulated predominantly during the winter-spring season of 2010 to 2011. The full-length G gene of 23 hMPV strains was amplified, and group A and B viruses accounted for 95.7% (22/23) and 4.3% (1/23), respectively. Genotype A2b of hMPV appeared to be predominant during the study period. Three genotypes (A2b, A1, and B1) were prevalent in the epidemic season of 2008 to 2009, and only genotype A2b was identified in the other two seasons (2009 to 2010 and 2010 to 2011). The G gene of hMPV was predicted to encode proteins with four different lengths, in which one with 210 amino acids was first identified in China. These findings suggest that hMPV was an important pathogen of ALRTI in pediatric patients, especially those <5 years of age. Genotype A2b of hMPV likely predominates in Southwest China, where other genotypes also circulate.
    Journal of clinical microbiology 06/2012; 50(8):2714-9. · 4.23 Impact Factor
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    ABSTRACT: To establish a novel flow cytometry-based assay for measuring the expression of lysosomal-associated membrane protein 1 (LAMP-1, CD107α) on the cell surface of natural killer (NK) cells and cytotoxic T lymphocyte (CTL) and evaluate the screening value of this assay for cytotoxic defects-related diseases such as familial hemophagocytic lymphopro-liferative (FHL) syndrome. Three suspected Chediak-Higashi Syndrome (CHS) patients, three suspected FHL patients and 10 healthy children were enrolled in the study from October 2010 to June 2011. Their PBMCs were separated and activated overnight with IL-2. After the granule release of NK cells activated by phytohemagglutinin (PHA) and CD8+T cells by anti-CD3, the CD107α expression were analyzed by flow cytometry. The peripheral blood DNA and RNA of the patients were extracted to analyze the pathogenic genes via DNA-PCR/RT-PCR and direct sequencing. The CD107α expression on CTL in the ten healthy children significantly increased after activation by anti-CD3 [(0.18 ± 0.07)% vs. (4.47 ± 2.36)%, P < 0.05] and NK cells after activation by PHA [(0.27 ± 0.07)% vs. (5.80 ± 2.83)%, P < 0.05]. The frequency of CD107α-expression NK cells in three suspected CHS after activation was significantly elevated when compared with the healthy control [0.5%, 0.6% vs. (5.80 ± 2.83)%] except patient 2. After the anti-CD3 activation, the frequency of CD107α expression on CTL cells also showed no significant difference [0.3%, 0.9%, 0.2% vs. (4.47 ± 2.36)%] in three patients. All of their mean fluorescence intensity (MFI) showed the same trend. Patient 1 and 3 were identified to have LYST mutations (Patient 1: c.5411-5414 del TTTC, L1741fsX1758 and c.7975 C > T, R2596X; Patient 3: c.4863G > A, R1563H and c.5392-5393delAA, E1739fsX1756). There was no mutation identified in the LYST gene for patient 2. CD107α expression of NK cells and CTL in the suspected FHL patients and in mirror of these findings, no underlying gene variation of PRF, MUNC13-4 and STX11 were identified. We developed a method to quantitatively assess cytotoxicity of the NK cells and CTL by measuring the expression of CD107α on the cell membrane, which appeared to be an effective and rapid screening test for cytotoxic defects-related diseases such as FHL and other HLH secondary to primary immunodeficiency.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 05/2012; 50(5):386-91.
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    ABSTRACT: Deficiency of X-linked inhibitor of apoptosis (XIAP) caused by XIAP/BIRC4 gene mutations is an inherited immune defect recognized as X-linked lymphoproliferative syndrome type 2. This disease is mainly observed in patients with hemophagocytic lymphohistiocytosis (HLH) often associated with Epstein-Barr virus infection. We described nine Japanese patients from six unrelated families with XIAP deficiency and studied XIAP protein expression, XIAP gene analysis, invariant natural killer T (iNKT) cell counts, and the cytotoxic activity of CD8(+) alloantigen-specific cytotoxic T lymphocytes. Of the nine patients, eight patients presented with symptoms in infancy or early childhood. Five patients presented with recurrent HLH, one of whom had severe HLH and died after cord blood transplantation. One patient presented with colitis, as did another patient's maternal uncle, who died of colitis at 4 years of age prior to diagnosis with XIAP deficiency. Interestingly, a 17-year-old patient was asymptomatic, while his younger brother suffered from recurrent HLH and EBV infection. Seven out of eight patients showed decreased XIAP protein expression. iNKT cells from patients with XIAP deficiency were significantly decreased as compared with age-matched healthy controls. These results in our Japanese cohort are compatible with previous studies, confirming the clinical characteristics of XIAP deficiency.
    Journal of Clinical Immunology 01/2012; 32(3):411-20. · 2.65 Impact Factor
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    ABSTRACT: To investigate the value of gene analysis of amniotic fluid exfoliated cells and WASP detection from cord blood in prenatal diagnosis of high-risk fetus with Wiskott-Aldrich syndrome. Seven patients with Wiskott-Aldrich syndrome were diagnosed by gene analysis and WASP detected by flow cytometry from 2008 to 2010. After detailed inquiry for medical history and gene analysis of related family members, seven pedigree trees were drawn, including 15 carriers of abnormal genes. From 2008 to 2011, seven samples of amniotic cell gotten by amniocentesis were collected from seven high-risk pregnant women with abnormal gene during 18 to 20 gestational weeks. WASP gene was amplified by polymerase chain reaction (PCR) from DNA of amniotic cell gotten and sequencing was performed directly on the PCR products forward and reversely. Embryo blood sample was collected from one high-risk fetus by needle puncture of bilical blood vessel and WASP expression was detected by flow cytometry. Karyotyping was performed in amniotic cell gotten cultivated by orthotope slice and G band staining. Gene analysis of WASP, WASP expression detected by flow cytometry and evaluation of immune function were reexamined in high-risk fetus after delivery. Amniocentensis and culture of amniotic cell succeeded in all the seven fetuses. Gene analysis and karyotyping showed that one male fetus and four female fetusse were normal and two female fetuses were carriers. WASP expression detected from embryo blood sample of the patient was normal. After delivery, the result of gene analysis, WASP detection and evaluation of immune function was the same as that of prenatal diagnosis. Karyotyping, gene analysis and WASP detection of cord blood can provide reliable service of prenatal diagnosis for high-risk pregnant women with Wiskott-Aldrich syndrome.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 01/2012; 50(1):15-9.
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    ABSTRACT: BACKGROUND: X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations of the gene for the γ-chain (γc) of the interleukin-2 receptor, IL2RG. We analyzed the clinical, immunologic, and molecular characteristics of children with X-SCID, attempting to improve the diagnosis and treatment of X-SCID in China. METHODS: X-SCID was suspected in male infants with recurrent or persistent infections. Eleven male infants from ten unrelated Chinese families were included. The IL2RG gene was amplified and sequenced, followed by mutation analysis in these children and their female relatives. X-linked short tandem repeat (X-STR) typing was done to define the maternal lymphocyte engraftment. RESULTS: The 11 children exhibited recurrent infections and 10 of them had lymphopenia. B cells were present in all patients, T cells were markedly reduced in 10, and NK cells were markedly reduced in 9. Nine IL2RG gene mutations were identified in the 11 children, with 5 novel mutations. One patient was found to have the maternal lymphocyte engraftment. CONCLUSION: The clinical presentations and immunologic characteristics of the X-SCID patients were accordingly quite uniform despite the heterogeneity of mutations locating almost in the entire γc gene.
    World Journal of Pediatrics 11/2011; · 1.08 Impact Factor
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    ABSTRACT: This study was to evaluate the replication and pathogenicity of attenuated human metapneumovirus (HMPV) mutants in severe combined immunodeficiency (SCID) mice. SCID mice were intranasally infected with either wild type GFP-rHMPV (WT), or mutant viruses (M1, M2 and M4) with the N-linked glycosylation(s) of the F protein removed. The organs were collected for viral isolation, titration, pulmonary histopathology and mRNA detection by PCR at different time points. WT or mutant viruses were successfully isolated from the lungs of infected mice after inoculation. The titers of WT and M1 peaked on 5th day and remained detectable until 14th day post-inoculation. M2 reached approximately 4 logs lower titer on 5th and 9th day post-inoculation as compared to WT and M1. M4 showed similar growth kinetics to M2. Viral signal was never detected from the heart, liver, spleen, kidney and brain on 5th day post-inoculation. The pulmonary pathology score in the M1 infected mice was similar to WT infected mice but higher than in M2 or M4 infected mice. WT and HMPV mutants can thus only replicate in the lungs of SCID mice. Attenuated M2 and M4 may be considered as candidates for the preparation of vaccine against HMPV.
    Vaccine 11/2011; 30(2):231-6. · 3.49 Impact Factor
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    ABSTRACT: To investigate the clinical features of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH), to analysis the outcome of HLH-2004 protocol, and to explore the prognostic factors in EBV-HLH patients. The clinical features at onset and outcome of HLH-2004 protocol from 83 pediatric patients with EBV-HLH enrolled from January 2006 to December 2009 in our hospital were analyzed retrospectively. Univariate and multivariate COX regression analysis were used to identify statistically significant prognostic factors. (1) Among the 83 patients, 45 were males and 38 were females. The age of onset ranged from 6 months to 14 years 4 months. 44 patients were treated with HLH-2004, and 3-year overall survival (OS) was (55.8 ± 7.9)%. (2) The most common clinical features of EBV-HLH included high fever, cytopenia, hepatosplenomegaly, and coagulopathy; The respiratory symptoms, angina phlogistic, skin rashes, neurologic abnormality were rare. 97.3% of patients showed an elevation of serum ferritin, liver dysfunction and lipid metabolism disorders was found in most of EBV-HLH patients. 89.0% of patient had hemophagocytosis in bone marrow at diagnosis of EBV-HLH. (3) COX regression analysis revealed that anemia degree, serum albumin < 30 g/L, CD4:CD8 abnormity, NK cell < 3%, treatment protocol were related with the prognosis significantly (P < 0.05). EBV-HLH in pediatric patients has severe clinical feature and poor prognosis. HLH-2004 protocol is an effective treatment for patients with EBV-HLH. Symptomatic treatment can't rescue the patients of EBV-HLH.
    Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 10/2011; 32(10):668-72.
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    ABSTRACT: Omenn syndrome (OS) is a rare autosomal recessive genetic disorder and presents symptoms of severe combined immunodeficiency characterized by erythrodermia, eosinophilia, hepatosplenomegaly, lymphadenopathy, and elevated serum IgE levels. OS has been found to be caused by mutations in RAG1 or RAG2 gene that result in partial V(D)J recombination activity. No study on OS has been reported in Chinese children so far. In this study, the genotype and phenotypes of three infants with OS from three unrelated Chinese families were investigated. All the three children had most of the characteristics of OS except normal serum IgE level. Compound heterozygosity mutations in RAG1 gene (1983 G>A; 2444 C>T and 2219 C>T; 3127 C>G) were identified in two cases, and a homozygous deletion mutation with a premature stop codon was found at residue 2302 of RAG1 gene (2302delT, I729X) in the remaining case, including three novel mutations (2302delT, I729X; 2219 C>T, R699W; and 3127 C>G, Y1001X). Spectratyping analysis of T-cell receptor β-chain variable region (TCRVβ) gene rearrangement was performed in case 1 and case 2. All the 25 TCRVβ subfamilies presented monoclonal or oligoclonal peaks in case 1 and 11 TCRVβ subfamilies were very weak or even absent in case 2. This was the first report about OS in Chinese children. Molecular genetic testing represents an important tool for early confirmed diagnosis and may allow accurate carrier detection and prenatal diagnosis.
    Pediatric Allergy and Immunology 08/2011; 22(5):482-7. · 3.38 Impact Factor
  • Xue-mei Tang, Xiao-dong Zhao, Xi-qiang Yang
    Zhonghua er ke za zhi. Chinese journal of pediatrics 07/2011; 49(7):481-4.
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    ABSTRACT: To understand the clinical characteristics and outcome associated with respiratory syncytial virus (RSV) infection in hematopoietic stem cell transplantation (HSCT) recipients with primary immunodeficiencies (PIDs). Nasopharyngeal aspirate samples were collected consecutively before and after HSCT from 9 recipients from Apr. 2009 to Sep. 2010 and analyzed for the presence of RSV using real-time polymerase chain reaction assay. To further verify the presence of the virus, positive samples for PCR were isolated for RSV. RSV G gene was amplified, sequenced and used for phylogenetic analysis. The presence of RSV was detected in 3 out of 9 children. The viral replication in all the patients was prolonged for months. All the 3 patients with RSV infection were treated with intravenous immune globulin (IVIG) and one was treated with antiviral medication. All patients survived and achieved successful immune reconstitution. This study indicates that the HSCT recipients with PID are at increased risk for RSV infection. RSV can shed for months after the initial infection and the patients recover with the course of immune reconstitution.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 07/2011; 49(7):489-94.
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    ABSTRACT: X-linked lymphoproliferative disease (XLP), a genetic disorder characterized by immunodeficiency to Epstein-Barr virus (EBV) infection, has been linked to mutations in the SH2D1A gene. XLP patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocytosis, hypogammaglobulinemia or malignant lymphoma. Here we report the clinical features, gene mutation and SAP expression on PBMCs of a Chinese patient with XLP and potential carriers. A 6 years old male patient and his maternal relatives were enrolled in this study. The patient was found to have with a renal Burkitt lymphoma on the right waist at 5 years of age by accident. His elder brother and a maternally related cousin both died of multiple systemic organ dysfunction syndrome (MODS) due to fulminant infectious mononucleosis (FIM) at the age of one year. The patient and his maternal relatives were subjected to detection of SAP expression on the PBMCs by flow cytometry and gene mutation analysis of SH2D1A by using PCR based on genomic DNA. The patient exhibited 536.9 copy/ml level of circulating EBV-DNA during remission. Sequence analysis showed that the patient harbored a nonsense mutation in exon 2 (C462T), resulting in a premature stop codon (Arg55X). His mother and some of the maternal relatives were proved to be carriers of this mutation. SAP expression from the patient was significantly reduced as compared to normal individual and the carriers. We identified a Chinese XLP case genetically. Assessment of SAP expression on PBMCs by flow cytometry seemed to be an effective rapid diagnostic method for this disease. Absence of EBV infection does not diminish the possibility of XLP.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 06/2011; 49(6):416-20.