Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa.

Clinical and molecular features of 38 children with chronic granulomatous disease in mainland china.

Purpose: 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.

Clinical, molecular, and T cell subset analyses in a small cohort of Chinese patients with hyper-IgM syndrome type 1.

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.

Distribution, clinical features and molecular analysis of primary immunodeficiency diseases in Chinese children: a single-center study from 2005 to 2011.

Methods: Two hundred 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.

[Analysis of prenatal diagnosis for seven high-risk fetuses with Wiskott-Aldrich syndrome].

Objective: 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.

Method: 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.

Resveratrol Inhibits respiratory syncytial virus-induced IL-6 production, decreases viral replication, and downregulates TRIF expression in airway epithelial cells.

Respiratory syncytial virus (RSV) is the most common pathogen responsible for lower respiratory diseases in children. So far, there is no effective treatment or preventative vaccine available for RSV infection, although ribavirin and dexamethasone are commonly prescribed. Resveratrol has been shown to inhibit the replication of several other viruses, thus the effect of resveratrol on RSV-induced inflammatory mediators in 9HTEo cell cultures was evaluated, and possible mechanisms of action were explored and compared with dexamethasone and ribavirin.

Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China.

Unlabelled: 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.

Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

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.

[Comparation of inflammation between wild mice and severe combined immunodeficiency mice with endotoxemia induced by lipopolysaccharide].

Aim: To compare the inflammation between wild BALB/c mice and mice with severe combined immunodeficiency (SCID) with endotoxemia induced by lipopolysaccharide (LPS).

Methods: Endotoxemia models of wild and SCID mice were established by injecting LPS intraperitoneally. Serum was taken before and 3 h, 6 h, 12 h after injecting LPS, liver and lung were taken 12 h after injecting LPS.

Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.

Severe combined immunodeficiencies (SCID) are a group of rare inherited disorders with profound defects in T cell and B cell immunity. From 2005 to 2010, our unit performed testing for IL2RG, JAK3, IL7R, RAG1, RAG2, DCLRE1C, LIG4, AK2, and ZAP70 mutations in 42 Chinese and Southeast Asian infants with SCID adopting a candidate gene approach, based on patient's gender, immune phenotype, and inheritance pattern. Mutations were identified in 26 patients, including IL2RG (n = 19), IL7R (n = 2), JAK3 (n = 2), RAG1 (n = 1), RAG2 (n = 1), and DCLRE1C (n = 1).

[Analysis of mutation in heavy chain-micro (microHC) gene in a Chinese patient with congenital agammaglobulinemia].

Objective: Mutation in the heavy chain micro (microHC) gene causes a rare type of autosomal recessive agammaglobulinemia. Here we report the molecular and clinical characterization of a compound heterozygous mutation in the microHC gene in a patient with autosomal recessive agammaglobulinemia firstly from China.

Method: A one-year and ten-month-old male patient and his parents were enrolled in this study.

Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.

The clinical data of 24 children with Wiskott-Aldrich syndrome (WAS) from 23 unrelated Chinese families were reviewed in the present study. WAS protein (WASP) expression in peripheral blood mononuclear cells was examined by flow cytometry (FCM); WASP gene was amplified by PCR and directly sequenced to analyze mutations in the WASP gene in patients and their female relatives. FCM analysis of 21 patients showed that 18 cases were WASP-negative, and three had partially WASP expression.

[Analysis of viral etiology of severe pneumonia in infants and young children in Chongqing area].

Objective: To investigate the prevalence of viral infections and putative association of viral infection with illness severity in young children with severe lower respiratory tract infection (LRTI) in Chongqing.

Method: Respiratory secretion specimens were collected from 119 hospitalized patients with severe pneumonia from December 2006 to March 2008.After being processed, the samples were detected for respiratory viruses including respiratory syncytial virus (RSV), adenovirus (ADV), human metapneumovirus (hMPV), human bocavirus (HBoV), parainfluenza virus 1, 2, 3 (PIV 1, 2, 3), influenza virus A and B (IVA and IVB) either by PCR or RT-PCR.

[Effects of ovalbumin atomization on the T lymphocyte subsets of BALB/c mice with intestinal microflora disruption].

Aim: To explore the effects of ovalbumin atomization on the T lymphocyte subsets in lung and spleen of BALB/c mice with intestinal microflora disruption resulted from antibiotic therapy.

Methods: Thirty two female BALB/c mice were devided at random into 4 groups with eight mice in each. They were microbiota disruption group, microbiota disruption and challenge group, challenge group and control group.

Genetic variability of respiratory syncytial viruses (RSV) prevalent in Southwestern China from 2006 to 2009: emergence of subgroup B and A RSV as dominant strains.

Respiratory syncytial virus (RSV) is the most commonly identified viral agent in young children with acute respiratory tract infections (ARIs) and often causes repeated infections throughout life. This study investigated the genetic variability of the attachment (G) protein gene among RSV strains prevalent in southwestern China. Reverse transcription-PCR (RT-PCR) for a fragment of the RSV G gene was performed with nasopharyngeal aspirates (NPAs) collected from children with ARIs hospitalized in Chongqing Children's Hospital, Chongqing, China.