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    7577 results match your criteria Severe Combined Immunodeficiency

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    CTLA4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky SCID.
    J Allergy Clin Immunol 2017 Feb 6. Epub 2017 Feb 6.
    Translational Immunology Laboratory, VIB, Leuven, Belgium; KU Leuven - University of Leuven, Department of Microbiology and Immunology, Leuven, Belgium. Electronic address:
    Background: Severe combined immunodeficiency (SCID) can be caused by loss-of-function mutations in genes involved in the DNA recombination machinery, such as RAG1, RAG2 or DCLRE1C. Defective DNA recombination causes a developmental block in T cells and B cells, resulting in high susceptibility to infections. Hypomorphic mutations in the same genes can also give a partial loss of T cells, in a spectrum including leaky SCID (LS) and Omenn syndrome (OS). Read More

    EpCAM+ Liver Cancer Stem-Like Cells Exhibiting Autocrine Wnt Signaling Potentially Originate in Cirrhotic Patients.
    Stem Cells Transl Med 2017 Feb 8. Epub 2017 Feb 8.
    Department of Molecular and Cellular Medicine, Institute of Liver and Biliary Sciences, New Delhi, India.
    Hepatocellular carcinoma (HCC) is believed to originate from cancer stem cells (CSCs). While epithelial cell adhesion molecule (EpCAM) is a marker of normal hepatic stem cells (HSCs), EpCAM+ cells from HCC behave like CSCs. Since HCC mostly develops on a cirrhotic background, we sought to determine whether CSC-like EpCAM+ cells exist in patients with advanced cirrhosis. Read More

    Establishment of a Novel Myelodysplastic Syndrome (MDS) Xenotransplantation Model.
    Clin Lab 2016 Sep;62(9):1651-1659
    Background: Myelodysplastic syndrome (MDS) is a clonal disease of the elderly characterized by chronic cytopenia, dysplasia, and a high risk of progression to acute myeloid leukemia (AML). Up until now, few animal models that fully recapitulate clinical features of this disease have been available.

    Methods: This study aimed to establish a new MDS xenograft model utilizing a human MDS-derived cell line with heterozygous Y641C mutation of EZH2 (SKM-1). Read More

    Usefulness of humanized cDNA-uPA/SCID mice for the study of hepatitis B virus and hepatitis C virus virology.
    J Gen Virol 2017 Jan 28. Epub 2017 Jan 28.
    14Graduate school of Biomedical Science, Hiroshima University.
    Urokinase-type plasminogen activator-severe combined immunodeficiency (uPA/SCID) mice transplanted with human hepatocytes are permissive for hepatitis B virus (HBV) and hepatitis C virus (HCV) infection. However, one of the problems affecting uPA transgenic mice is the expansion of mouse hepatocyte colonies due to homologous recombination of the uPA gene. In this study, we attempted to infect HBV and HCV in humanized cDNA-uPA/SCID mice, a novel uPA transgenic mouse model designed to overcome this disadvantage. Read More

    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
    Am J Hum Genet 2017 Feb 26;100(2):281-296. Epub 2017 Jan 26.
    Department of Experimental Immunology, Academic Medical Centre, PO Box 22660, 1100 DD Amsterdam, the Netherlands. Electronic address:
    EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c. Read More

    Donor bone marrow cells are essential for iNKT cell-mediated Foxp3+ Treg cell expansion in a murine model of transplantation tolerance.
    Eur J Immunol 2017 Jan 26. Epub 2017 Jan 26.
    Department of Urology, Tokyo Women's Medical University, Tokyo, Japan.
    Mixed chimerism induction is the most reliable method for establishing transplantation tolerance. We previously described a novel treatment using a suboptimal dose of anti-CD40 ligand (anti-CD40L) and liposomal formulation of a ligand for invariant natural killer T cells administered to sub-lethally irradiated recipient mice after donor bone marrow cell (BMC) transfer. Recipient mice treated with this regimen showed expansion of a Foxp3-positive regulatory T(Treg) cell phenotype, and formation of mixed chimera. Read More

    Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder.
    Immunogenetics 2017 Jan 26. Epub 2017 Jan 26.
    Division of Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
    In humans, the complete lack of tyrosine kinase ZAP70 function results in combined immunodeficiency (CID), with abnormal thymic development and defective T cell receptor (TCR) signaling of peripheral T cells, characterized by the selective absence of CD8(+) T cells. So far, 15 unique ZAP70 mutations have been identified in approximately 20 patients with CID, with variable clinical presentations. Herein, we report the first case from China of novel compound heterozygous mutations in ZAP70 (c. Read More

    Investigation of genetic defects in severe combined immunodeficiency patients from Turkey by targeted sequencing.
    Scand J Immunol 2017 Jan 21. Epub 2017 Jan 21.
    CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
    Primary immunodeficiencies (PIDs) represent a large group of disorders with an increased susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) with marked T-cell lymphopenia. Investigation of the genetic etiology using classical Sanger sequencing is associated with considerable diagnostic delay. Read More

    Pro-inflammatory effect of a traditional Chinese medicine formula with potent anti-cancer activity in vitro impedes tumor inhibitory potential in vivo.
    Mol Clin Oncol 2016 Dec 24;5(6):717-723. Epub 2016 Oct 24.
    Division of Biology and Chemistry, The Key Laboratory of Chemistry for Natural Products of Guizhou Province and Chinese Academy of Sciences, Guiyang, Guizhou 550008, P.R. China; Department of Biological Sciences, Guiyang Medical University, Guiyang, Guizhou 550025, P.R. China.
    Medicinal formulas are a part of the complex discipline of traditional Chinese medicine that has been used for centuries in China and East Asia. These formulas predominantly consist of the extracts isolated from herbal plants, animal parts and medicinal minerals. The present study aimed to investigate the impact of 150 formulas, used as non-prescription drugs in China, on the treatment of cancer. Read More

    Screening and analysis of breast cancer genes regulated by the human mammary microenvironment in a humanized mouse model.
    Oncol Lett 2016 Dec 24;12(6):5261-5268. Epub 2016 Oct 24.
    Department of Breast Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
    Tumor microenvironments play critical regulatory roles in tumor growth. Although mouse cancer models have contributed to the understanding of human tumor biology, the effectiveness of mouse cancer models is limited by the inability of the models to accurately present humanized tumor microenvironments. Previously, a humanized breast cancer model in severe combined immunodeficiency mice was established, in which human breast cancer tissue was implanted subcutaneously, followed by injection of human breast cancer cells. Read More

    Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.
    Clin Transl Immunology 2016 Dec 2;5(12):e114. Epub 2016 Dec 2.
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.
    Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by Candida spp., mainly Candida albicans. CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Read More

    Inhibition of TRPML1 by lysosomal adenosine involved in severe combined immunodeficiency diseases.
    J Biol Chem 2017 Jan 13. Epub 2017 Jan 13.
    Dalhousie University, Canada;
    Impaired adenosine homeostasis has been associated with numerous human diseases. Lysosomes are referred to as the cellular recycling centers which generate adenosine by breaking down nucleic acids or ATP. Recent studies have suggested that lysosomal adenosine overload causes lysosome defects which phenocopy patients with mutations in TRPML1, a lysosomal Ca2+ channel, suggesting that lysosomal adenosine overload may impair TRPML1 and then lead to subsequent lysosomal dysfunction. Read More

    Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.
    Arch Immunol Ther Exp (Warsz) 2017 Jan 12. Epub 2017 Jan 12.
    Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Wielicka 265, 30-663, Krakow, Poland.
    Mutations in RAG1 gene may result in different types of severe combined immunodeficiencies. In this study, we compare clinical symptoms and laboratory findings in four children with identical mutation in RAG1 gene. All of analyzed patients presented symptoms of severe combined immunodeficiencies associated or not with Omenn syndrome (OS) features. Read More

    Autoinhibition of the Nuclease ARTEMIS is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains.
    J Biol Chem 2017 Jan 12. Epub 2017 Jan 12.
    Institute for Transfusion Medicine, University of Ulm, Germany.
    The nuclease ARTEMIS is essential for the development of B and T lymphocytes. It is required for opening DNA hairpins generated during antigen receptor gene assembly from variable (V), diversity (D) and joining (J) subgenic elements (V(D)J recombination). As a member of the non-homologous end joining pathway it is also involved in repairing a subset of pathological DNA double-strand breaks. Read More

    CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.
    Sci Transl Med 2017 Jan;9(372)
    Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
    Gene repair of CD34(+) hematopoietic stem and progenitor cells (HSPCs) may avoid problems associated with gene therapy, such as vector-related mutagenesis and dysregulated transgene expression. We used CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9 (CRISPR-associated 9) to repair a mutation in the CYBB gene of CD34(+) HSPCs from patients with the immunodeficiency disorder X-linked chronic granulomatous disease (X-CGD). Sequence-confirmed repair of >20% of HSPCs from X-CGD patients restored the function of NADPH (nicotinamide adenine dinucleotide phosphate) oxidase and superoxide radical production in myeloid cells differentiated from these progenitor cells in vitro. Read More

    FOXN1 deficient nude severe combined immunodeficiency.
    Orphanet J Rare Dis 2017 Jan 11;12(1). Epub 2017 Jan 11.
    Developmental Immunology Group, Department of Paediatrics, University of Oxford, Oxford, UK.
    Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Read More

    Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.
    Sci Rep 2017 Jan 11;7:40136. Epub 2017 Jan 11.
    San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy.
    Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy represent an unresolved enigma in the field. We found significant neurological and cognitive alterations in untreated ADA-SCID patients as well as in two groups of patients after short- and long-term enzyme replacement therapy with PEG-ADA. Read More

    The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.
    Immunol Res 2017 Jan 10. Epub 2017 Jan 10.
    Pediatric Immunology, Safra Children's Hospital, Sheba Medical Center, Tel Aviv University, Tel Hashomer, Israel.
    Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included. Read More

    Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.
    Biol Blood Marrow Transplant 2017 Mar 6;23(3):379-387. Epub 2017 Jan 6.
    Department of Pediatrics, Allergy, Immunology, and Blood and Marrow Transplant Division, University of California San Francisco, San Francisco, California.
    Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. Historically, SCID was diagnosed in infants who presented with opportunistic infections within the first year of life. With newborn screening (NBS) for SCID in most of the United States, the majority of infants with SCID are now diagnosed and treated in the first 3. Read More

    The persistent problem of late HIV diagnosis in people with AIDS: a population-based study in Italy, 1999-2013.
    Public Health 2017 Jan 18;142:39-45. Epub 2016 Nov 18.
    Centro Operativo AIDS, Istituto Superiore di Sanità, Rome, Italy.
    Objectives: Despite the wide accessibility to free human immunodeficiency virus (HIV) testing and combined antiretroviral therapy (cART), late HIV diagnosis remains common with severe consequences at individual and population level. This study aimed to describe trends of late HIV testing and to identify their determinants in the late cART era in Italy.

    Study Design: We conducted a population-based, nationwide analysis of the Italian National AIDS Registry data (AIDS - acquired immune deficiency syndrome) for the years 1999-2013. Read More

    PEGylated long-circulating liposomes deliver homoharringtonine to suppress multiple myeloma cancer stem cells.
    Exp Biol Med (Maywood) 2017 Jan 1:1535370216685008. Epub 2017 Jan 1.
    1 Department of Pathogenic Biology and Immunology, School of Medicine, Southeast University, Nanjing 210009, China.
    The goal of this investigation was to evaluate the inhibiting effect of high proportion polyethyleneglycol of long-circulating homoharringtonine liposomes on RPMI8226 multiple myeloma cancer stem cells. The CD138(-)CD34(-) multiple myeloma cancer stem cells isolated from RPMI8226 cell line using magnetic activated cell sorting system were, respectively, incubated with the optimized formulation of polyethyleneglycol of long-circulating homoharringtonine liposomes and the homoharringtonine in vitro, and the multiple myeloma cancer stem cell proliferation, colony formation, and cell cycle were analyzed. The inhibition of the multiple myeloma CD138(-)CD34(-) cancer stem cell growth was investigated in non-obese-diabetic/severe-combined-immunodeficiency mice that were implanted with multiple myeloma RPMI 8226 cancer stem cells and treated with the LCL-HHT-H-PEG. Read More

    DNA Ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
    Pediatr Allergy Immunol 2016 Dec 31. Epub 2016 Dec 31.
    Service de Génétique, Hopital Maison Blanche, CHU Reims, Reims, France.
    DNA ligase IV (LIG4) deficiency (LIG4 syndrome, LS, OMIM 606593) is a very rare autosomal-recessive DNA-repair disorder first reported in 2001(1). In LS, genome instability results in a broad range of Onco-Hemato-Immunological disturbances, including progressive pancytopenia in childhood, and severe combined immunodeficiency (SCID) B(-) T(-) NK(+) and malignancy; it is also associated with microcephalic developmental delay, short stature, and facial dysmorphism. Clinical presentation ranges in severity from rapidly fatal to mild hemato-immunological forms associated with microcephalic developmental delay. Read More

    Identification and Characterization of Novel Rat Polyomavirus 2 in a Colony of X-SCID Rats by P-PIT assay.
    mSphere 2016 Nov-Dec;1(6). Epub 2016 Dec 21.
    Cancer Virology Program, University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania, USA.
    Polyomaviruses (PyVs) are known to infect a wide range of vertebrates and invertebrates and are associated with a broad spectrum of diseases, including cancers, particularly in immune-suppressed hosts. A novel polyomavirus, designated rat polyomavirus 2 (RatPyV2), was identified from a breeding colony of rats having X-linked severe combined immunodeficiency. Using a human panpolyomavirus immunohistochemistry test (P-PIT), RatPyV2 was initially detected in the parotid salivary gland of a colony member. Read More

    Regulation of Store-Operated Ca(2+) Entry by Septins.
    Front Cell Dev Biol 2016 15;4:142. Epub 2016 Dec 15.
    National Centre for Biological Sciences, Tata Institute of Fundamental Research Bangalore, India.
    The mechanism of store-operated Ca(2+) entry (SOCE) brings extracellular Ca(2+) into cells after depletion of intracellular Ca(2+) stores. Regulation of Ca(2+) homeostasis by SOCE helps control various intracellular signaling functions in both non-excitable and excitable cells. Whereas essential components of the SOCE pathway are well characterized, molecular mechanisms underlying regulation of this pathway need investigation. Read More

    Costs associated with treatment of severe combined immunodeficiency-rationale for newborn screening in Sweden.
    J Allergy Clin Immunol 2016 Dec 21. Epub 2016 Dec 21.
    Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet, Huddinge, Stockholm, Sweden; Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Department of Laboratory Medicine, Karolinska Institutet, Huddinge, Stockholm, Sweden.

    Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
    J Exp Med 2017 Jan 23;214(1):91-106. Epub 2016 Dec 23.
    Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden
    In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)-related diseases. Three patients presented with EBV-associated Hodgkin's lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth had viral encephalitis during infancy. Read More

    Necrotizing Retinitis Secondary to Congenital Cytomegalovirus Infection Associated with Severe Combined Immunodeficiency.
    Case Rep Ophthalmol Med 2016 23;2016:1495639. Epub 2016 Nov 23.
    Sanliurfa Children's Hospital, Sanliurfa, Turkey.
    A 20-day-old male infant who was born at 39 weeks of gestation was admitted to neonatal intensive care unit due to severe respiratory insufficiency. In retinal examination, peripheric retinal white-black color areas that correspond to necrotizing retinitis, moderate vitritis, macular and optic nerve head involvement, vascular leakage, and sheathing indicating perivasculitis were revealed. Despite the fact that CMV specific IgM was undetectable, CMV DNA with high viral load was found in his blood sample by means of real-time polymerase chain reaction assay. Read More

    Pigs with Severe Combined Immunodeficiency Are Impaired in Controlling Influenza A Virus Infection.
    J Innate Immun 2016 Dec 17. Epub 2016 Dec 17.
    Virus and Prion Diseases of Livestock Research Unit, National Animal Disease Center, USDA, ARS, Ames, IA, USA.
    Influenza A viruses (IAV) infect many host species, including humans and pigs. Severe combined immunodeficiency (SCID) is a condition characterized by a deficiency of T, B, and/or natural killer (NK) cells. Animal models of SCID have great value for biomedical research. Read More

    Thymidine Kinase-Negative Herpes Simplex Virus 1 Can Efficiently Establish Persistent Infection in Neural Tissues of Nude Mice.
    J Virol 2017 Feb 31;91(4). Epub 2017 Jan 31.
    Department of Microbiology and Immunology, College of Medicine, National Cheng Kung University, Tainan, Taiwan, Republic of China
    Herpes simplex virus 1 (HSV-1) establishes latency in neural tissues of immunocompetent mice but persists in both peripheral and neural tissues of lymphocyte-deficient mice. Thymidine kinase (TK) is believed to be essential for HSV-1 to persist in neural tissues of immunocompromised mice, because infectious virus of a mutant with defects in both TK and UL24 is detected only in peripheral tissues, but not in neural tissues, of severe combined immunodeficiency mice (T. Valyi-Nagy, R. Read More

    Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
    N Engl J Med 2016 12;375(22):2165-2176
    From the Department of Pediatrics, University of California, San Francisco (UCSF), School of Medicine and UCSF Benioff Children's Hospital (D.P., J.Y., M.J.C., A.K., B.A.M., J.M.P.), and the Cardiovascular Research Institute, UCSF (C.O.L.), San Francisco, and the Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley (A.N.A., S.E.B.) - all in California; the Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia (Y.Z., S.P.F., D.L.W.); and Innovation Labs, Tata Consultancy Services, Telangana, India (S.R., A.C., R.S.).
    Background Severe combined immunodeficiency (SCID) is characterized by arrested T-lymphocyte production and by B-lymphocyte dysfunction, which result in life-threatening infections. Early diagnosis of SCID through population-based screening of newborns can aid clinical management and help improve outcomes; it also permits the identification of previously unknown factors that are essential for lymphocyte development in humans. Methods SCID was detected in a newborn before the onset of infections by means of screening of T-cell-receptor excision circles, a biomarker for thymic output. Read More

    Stochastic phenotypic interconversion in tumors can generate heterogeneity.
    Eur Biophys J 2017 Mar 9;46(2):189-194. Epub 2016 Dec 9.
    Mechanical Engineering, Microsystem, Northwestern Polytechnical University, 127 West Youyi Road, Xi'an Shaanxi, 710072, People's Republic of China.
    Phenotype variations define heterogeneity in biological and molecular systems, and play a crucial mechanistic role, and heterogeneity has been demonstrated in tumor cells. In this work, cells from blood of patients affected by colon cancer were analyzed and sorted using a microfluidic assay based on galactose-active moieties and incubated for culturing in severe combined immunodeficiency (SCID) mice. Based on the results of these experiments, a model based on Markov theory is implemented and discussed to explain the equilibrium existing between phenotypes of cell subpopulations sorted using the microfluidic assay. Read More

    CD34 Antigen and the MPL Receptor Expression Defines A Novel Class Of Human Cord Blood-derived Primitive Hematopoietic Stem Cells.
    Cell Transplant 2016 11 30. Epub 2016 Nov 30.
    Department of Stem Cell Biology and Regenerative Medicine, Graduate School of Medical Science.
    In the murine hematopoietic stem cell (HSC) compartment, thrombopoietin (THPO)/MPL (THPO receptor) signaling plays an important role in the maintenance of adult quiescent HSCs. However, the role of THPO/MPL signaling in the human primitive HSC compartment has not yet been elucidated. We have identified very primitive human cord blood (CB)-derived CD34-negative (CD34(-)) severe combined immunodeficiency (SCID)-repopulating cells (SRCs) using the intra-bone marrow injection method. Read More

    Stable knockdown of CREB, HIF-1 and HIF-2 by replication-competent retroviruses abrogates the responses to hypoxia in hepatocellular carcinoma.
    Cancer Gene Ther 2016 Dec 9. Epub 2016 Dec 9.
    Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    The fast proliferation of tumor cells develops faster than the vasculature, resulting, in most malignant tumors, in generation of hypoxic regions. Hypoxia renders solid tumors resistant to radiation and chemotherapeutics while providing opportunities for tumor-selective therapies targeting tumor hypoxia. Here we exploit two properties of tumors: propagation of tumor cells and ongoing generation of hypoxic regions to construct a system that preferentially leads to the death of tumor cells and thus hinders tumor growth. Read More

    Advances in clinical immunology in 2015.
    J Allergy Clin Immunol 2016 Dec;138(6):1531-1540
    Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Tex.
    Advances in clinical immunology in the past year included the report of practice parameters for the diagnosis and management of primary immunodeficiencies to guide the clinician in the approach to these relatively uncommon disorders. We have learned of new gene defects causing immunodeficiency and of new phenotypes expanding the spectrum of conditions caused by genetic mutations such as a specific regulator of telomere elongation (RTEL1) mutation causing isolated natural killer cell deficiency and mutations in ras-associated RAB (RAB27) resulting in immunodeficiency without albinism. Advances in diagnosis included the increasing use of whole-exome sequencing to identify gene defects and the measurement of serum free light chains to identify secondary hypogammaglobulinemias. Read More

    Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).
    Clin Immunol 2017 Feb 2;175:51-55. Epub 2016 Dec 2.
    Department of Pediatric Oncology, Hematology and Immunology, Children's Hospital, University of Heidelberg, Heidelberg, Germany. Electronic address:
    The prognosis of children with severe combined immunodeficiency (SCID) depends on a presymptomatic diagnosis and early treatment before complications occur. We established and tested a simplified, practical and economic newborn screening method based on the quantification of T-cell receptor excision circles (TRECs) on dried blood spots (DBSs) through qPCR. Our method was validated by the analysis of 11 positive controls, which all showed an absence of TRECs, thus yielding a sensitivity of 100%. Read More

    FDG PET-CT imaging of therapeutic response in granulomatous lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID).
    Clin Exp Immunol 2017 Jan 28;187(1):138-145. Epub 2016 Nov 28.
    Department of Radiology, PETIC, University Hospital of Wales, Cardiff, UK.
    Common variable immunodeficiency (CVID) is the most common severe adult primary immunodeficiency and is characterized by a failure to produce antibodies leading to recurrent predominantly sinopulmonary infections. Improvements in the prevention and treatment of infection with immunoglobulin replacement and antibiotics have resulted in malignancy, autoimmune, inflammatory and lymphoproliferative disorders emerging as major clinical challenges in the management of patients who have CVID. In a proportion of CVID patients, inflammation manifests as granulomas that frequently involve the lungs, lymph nodes, spleen and liver and may affect almost any organ. Read More

    Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation.
    Clin Immunol 2016 Nov 23. Epub 2016 Nov 23.
    King Faisal Specialist Hospital and Research Center, Department of Medicine, Allergy and Immunology section, P.O Box 3354, Riyadh 11211, MBC 46, Saudi Arabia; Alfaisal University, Saudi Arabia. Electronic address:
    Background: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease.

    Objective: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. Read More

    Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.
    Dermatol Clin 2017 Jan;35(1):11-19
    Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address:
    DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy, recurrent sinopulmonary and cutaneous viral infections, and malignancy. The DOCK8 protein is critical for cytoskeletal organization, and deficiency impairs dendritic cell transmigration, T-cell survival, and NK cell cytotoxicity. Early hematopoietic stem cell transplantation is gaining prominence as a definitive treatment given the potential for severe complications and mortality in this disease. Read More

    Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
    Int J Mol Sci 2016 Nov 22;17(11). Epub 2016 Nov 22.
    Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Neuropsychiatry, Kodaira, Tokyo 187-8551, Japan.
    Calcium is a crucial mediator of cell signaling in skeletal muscles for basic cellular functions and specific functions, including contraction, fiber-type differentiation and energy production. The sarcoplasmic reticulum (SR) is an organelle that provides a large supply of intracellular Ca(2+) in myofibers. Upon excitation, it releases Ca(2+) into the cytosol, inducing contraction of myofibrils. Read More

    Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.
    Pediatr Pulmonol 2017 Feb 22;52(2):E4-E6. Epub 2016 Nov 22.
    Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Korea.
    CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected. Read More

    Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
    J Clin Immunol 2017 Jan 21;37(1):51-60. Epub 2016 Nov 21.
    Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186, Stockholm, Sweden.
    Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated. Read More

    In vivo Evaluation of Human Embryonic Stem Cells Isolated by 57-C11 Monoclonal Antibody.
    Int J Stem Cells 2016 Nov;9(2):264-270
    Institute of Anticancer Medicine Development, Department of Integrative Bioscience and Biotechnology, Sejong University, Seoul, Korea.
    Background: The normal cells derived from human embryonic stem cells (hESCs) are regarded as substitutes for damaged or dysfunctional adult cells. However, tumorigenicity of hESCs remains a major challenge in clinical application of hESC-derived cell transplantation. Previously, we generated monoclonal antibody (MAb) 57-C11 specific to the surface molecule on undifferentiated hESCs. Read More

    Immunology Update: Primary Immunodeficiency Diseases.
    FP Essent 2016 Nov;450:35-53
    Department of Family Medicine Louisiana State University School of Medicine, 1542 Tulane Ave, New Orleans, LA 70112.
    There are 264 primary immunodeficiencies (PIDs), most of which are rare. They are caused by complement deficiencies, defects in phagocyte function, impaired T-cell function, and/or impaired B-cell function with antibody deficiencies. Most patients with PIDs will present, at varying ages, with frequent infections. Read More

    Rheumatoid synovial fibroblasts differentiate into distinct subsets in the presence of cytokines and cartilage.
    Arthritis Res Ther 2016 Nov 18;18(1):270. Epub 2016 Nov 18.
    Rheumatology Research Group, Institute of Inflammation and Ageing, University of Birmingham Research Laboratories, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2WB, UK.
    Background: We investigated two distinct synovial fibroblast populations that were located preferentially in the lining or sub-lining layers and defined by their expression of either podoplanin (PDPN) or CD248, and explored their ability to undergo self-assembly and transmigration in vivo.

    Methods: Synovial fibroblasts (SF) were cultured in vitro and phenotypic changes following stimulation with interleukin (IL)-1β, tumor necrosis factor (TNF)-α, and transforming growth factor (TGF)-β1 were examined. To examine the phenotype of SF in vivo, a severe combined immunodeficiency (SCID) human-mouse model of cartilage destruction was utilised. Read More

    Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
    BMC Med Genet 2016 Nov 17;17(1):84. Epub 2016 Nov 17.
    Division of Translational Medicine, Research Branch, Sidra Medical and Research Center, Doha, Qatar.
    Background: Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are limited. We describe the first case combining both disorders in a specific phenotype.

    Case Presentation: We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux. Read More

    Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India.
    Blood Cells Mol Dis 2016 Nov 5. Epub 2016 Nov 5.
    Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th Floor, NMS Building, KEM Hospital, Parel, Mumbai 400012, India. Electronic address:

    Vaccination in Primary Immunodeficiency Disorders.
    J Allergy Clin Immunol Pract 2016 Nov - Dec;4(6):1066-1075
    Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address:
    Immunocompromised patients have increased susceptibility to vaccine-preventable infections. Thus, vaccination is a critical issue in this population. Vaccines are usually classified as live versus inactivated or subunit (nonviable) vaccines. Read More

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