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    7817 results match your criteria Severe Combined Immunodeficiency

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    Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors.
    Biochem Biophys Res Commun 2018 Feb 17. Epub 2018 Feb 17.
    Department of Clinical Application, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Kyoto, 6068507, Japan. Electronic address:
    AK2 is an adenylate phosphotransferase that localizes at the intermembrane spaces of the mitochondria, and its mutations cause a severe combined immunodeficiency with neutrophil maturation arrest named reticular dysgenesis (RD). Although the dysfunction of hematopoietic stem cells (HSCs) has been implicated, earlier developmental events that affect the fate of HSCs and/or hematopoietic progenitors have not been reported. Here, we used RD-patient-derived induced pluripotent stem cells (iPSCs) as a model of AK2-deficient human cells. Read More

    Modelling human myoblasts survival upon xenotransplantation into immunodeficient mouse muscle.
    Exp Cell Res 2018 Feb 16. Epub 2018 Feb 16.
    Sorbonne Université, INSERM, CNRS, Center for Research in Myology, Institute of Myology, F-75013, Paris, France.
    Cell transplantation has been challenged in several clinical indications of genetic or acquired muscular diseases, but therapeutic success were mitigated. To understand and improve the yields of tissue regeneration, we aimed at modelling the fate of CD56-positive human myoblasts after transplantation. Using immunodeficient severe combined immunodeficiency (SCID) mice as recipients, we assessed the survival, integration and satellite cell niche occupancy of human myoblasts by a triple immunohistochemical labelling of laminin, dystrophin and human lamin A/C. Read More

    First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.
    Front Immunol 2018 2;9:113. Epub 2018 Feb 2.
    San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Pediatric Immunohematology and Bone Marrow Transplantation Unit, Scientific Institute San Raffaele (IRCCS), Milan, Italy.
    Adenosine deaminase-deficient severe combined immunodeficiency disease (ADA-SCID) is a primary immune deficiency characterized by mutations in the ADA gene resulting in accumulation of toxic compounds affecting multiple districts. Hematopoietic stem cell transplantation (HSCT) from a matched donor and hematopoietic stem cell gene therapy are the preferred options for definitive treatment. Enzyme replacement therapy (ERT) is used to manage the disease in the short term, while a decreased efficacy is reported in the medium-long term. Read More

    Intestinal immunity suppresses carrying capacity of rats for the model tapeworm, Hymenolepis diminuta.
    Parasitol Int 2018 Feb 12. Epub 2018 Feb 12.
    Department of Infectious Diseases, Hamamatsu University School of Medicine, Hamamatsu, Japan.
    Hymenolepis diminuta is a parasitic tapeworm of the rat small intestine and is recognized as a useful model for the analysis of cestode-host interactions. In this study, we analyzed factors affecting the biomass of the tapeworm through use of rat strains carrying genetic mutations, namely X-linked severe combined immunodeficiency (xscid; T, B and NK cells deficiency), nude (rnu; T cell deficiency), and mast cell deficient rats. The worm biomass of F344-xscid rats after infection with 5 cysticercoids was much larger than control F344 rats from 3 to 8 weeks. Read More

    Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety.
    Mol Ther 2018 Jan 4. Epub 2018 Jan 4.
    San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy, 20132; Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy, 20132; Vita-Salute San Raffaele University, Milan, Italy, 20132. Electronic address:
    Loss of adenosine deaminase activity leads to severe combined immunodeficiency (ADA-SCID); production and function of T, B, and natural killer (NK) cells are impaired. Gene therapy (GT) with an autologous CD34-enriched cell fraction that contains CD34cells transduced with a retroviral vector encoding the human ADA cDNA sequence leads to immune reconstitution in most patients. Here, we report short- and medium-term safety analyses from 18 patients enrolled as part of single-arm, open-label studies or compassionate use programs. Read More

    Critical intestinal cells originate from the host in enteroid-derived tissue-engineered intestine.
    J Surg Res 2018 Mar 28;223:155-164. Epub 2017 Nov 28.
    Department of General Pediatric Surgery, Nationwide Children's Hospital, Columbus, Ohio. Electronic address:
    Background: Enteroid-derived tissue-engineered intestine (TEI) contains intestinal subepithelial myofibroblasts (ISEMFs) and smooth muscle cells (SMCs). However, these cell types are not present in the donor enteroids. We sought to determine the origin of these cell types and to quantify their importance in TEI development. Read More

    The anti-osteosarcoma cell activity by a mTORC1/2 dual inhibitor RES-529.
    Biochem Biophys Res Commun 2018 Feb 9. Epub 2018 Feb 9.
    Department of Orthopaedics, Shaoxing People's Hospital, Shaoxing Hospital of Zhejiang University, Shaoxing, China. Electronic address:
    mTOR over-activation is important for human osteosarcoma (OS) tumorigenesis and progression. RES-529 is a mTORC1/2 dual inhibitor. Here, our results show that RES-529 inhibited viability, cell cycle progression and proliferation of the established (U2OS line) and primary human OS cells. Read More

    T-cell receptor excision circle levels and safety of paediatric immunization: A population-based self-controlled case series analysis.
    Hum Vaccin Immunother 2018 Feb 8. Epub 2018 Feb 8.
    b School of Epidemiology and Public Health , University of Ottawa , Ottawa , Canada.
    T-cell receptor excision circle levels are a surrogate marker of T-cell production and immune system function. We sought to determine whether non-pathological infant T-cell receptor excision circle levels were associated with adverse events following immunization. A self-controlled case series design was applied on a sample of 231,693 children who completed newborn screening for severe combined immunodeficiency in Ontario, Canada between August 2013 and December 2015. Read More

    New Human Combined Immunodeficiency Due to IRF4 Deficiency Inherited by Uniparental Isodisomy.
    J Allergy Clin Immunol 2018 Feb 2. Epub 2018 Feb 2.
    Department of Immunology, Hospital Universitario La Paz, Madrid 28046, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, 28046, Spain.
    Background: Interferon regulatory factor 4 (IRF4) is a fundamental transcription factor in adaptive and innate immunity, due to its key role in the differentiation and functional specialization of lymphoid and myeloid lineage cells. In mouse models, IRF4 participates in bone marrow central tolerance, naïve B cell activation, germinal centre formation, plasma cell differentiation, immunoglobulin secretion, T helper subset differentiation, macrophage polarization, and dendritic cell differentiation, among other processes.

    Objective: To describe the first case of autosomal recessive human IRF4 deficiency. Read More

    2'-Fluoro-6'-methylene carbocyclic adenosine and its phosphoramidate prodrug: A novel anti-HBV agent, active against drug-resistant HBV mutants.
    Med Res Rev 2018 Feb 6. Epub 2018 Feb 6.
    Department of Pharmaceutical and Biomedical Sciences, University of Georgia, Athens, GA, USA.
    Chronic hepatitis B (CHB) is one of the major causes of morbidity and mortality worldwide. Currently, clinically approved nucleos(t)ide analogs (NAs) are very efficient in reducing the load of hepatitis B virus (HBV) with minimum side effects. However, the long-term administration of antiviral drugs promotes HBV for potential drug resistance. Read More

    Feasibility analysis of treating severe intrauterine adhesions by transplanting menstrual blood-derived stem cells.
    Int J Mol Med 2018 Apr 23;41(4):2201-2212. Epub 2018 Jan 23.
    Department of Reproductive Μedicine, Anhui Provincial Hospital, The First Affiliated Hospital of University of Science and Technology of China, Hefei, Anhui 230001, P.R. China.
    Intrauterine adhesions (IUA) are associated with the loss of stem cells in the endometrium. Menstrual blood‑derived stem cells (MenSCs) can be isolated from the menstrual blood and differentiated into endometrial cells. To check the transplantation feasibility of MenSCs for the treatment of severe IUA, MenSCs were isolated from menstrual blood, cultured in Dulbecco's modified Eagle's medium (DMEM), identified by immunocytochemistry and flow cytometry, differentiated into endometrial cells in vitro, and finally transplanted into the axillary subcutaneous tissue of non‑obese diabetic/severe combined immunodeficiency (NOD‑SCID) mice to create endometrial tissue. Read More

    Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing.
    Immunol Invest 2018 Feb 1:1-8. Epub 2018 Feb 1.
    c Joy Orient Translational Medicine Research Center Co., Ltd , Beijing , China.
    Background: Primary immunodeficiency diseases are a group of genetic disorders that lead to increased propensity to a variety of infections, sometimes with fatal outcomes.

    Method: In this study, whole-exome sequencing (WES) was used to identify mutations in two patients suspected of having primary immunodeficiency. Sanger sequencing was used to confirm the results in the patients and their family. Read More

    Rare Clinical Presentation of Tuberculous Meningitis: A Case Report.
    Malays J Med Sci 2017 Oct 26;24(5):119-123. Epub 2017 Oct 26.
    Department of Medicine, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.
    Introduction: Tuberculosis is the second leading cause of death under the category of infectious diseases, after the human immunodeficiency virus (HIV). Tuberculous meningitis (TBM) constitutes about 5% of all extrapulmonary disease worldwide. This report describes a case of Tuberculous meningitis with rare presentation in a 28-year-old woman, who was treated based on a collection of her social background, clinical findings and Multiplex PCR of tuberculosis. Read More

    Modeling Idiopathic Pulmonary Fibrosis in Humanized Severe Combined Immunodeficiency Mice.
    Am J Pathol 2018 Feb 17. Epub 2018 Feb 17.
    Women's Guild Lung Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California. Electronic address:
    Idiopathic pulmonary fibrosis (IPF) is a fibrotic lung disease of unknown etiopathogenesis with limited therapeutic options. IPF is characterized by an abundance of fibroblasts and loss of epithelial progenitors, which cumulates in unrelenting fibrotic lung remodeling and loss of normal oxygenation. IPF has been challenging to model in rodents; nonetheless, mouse models of lung fibrosis provide clues as to the natural progression of lung injury and remodeling, but many have not been useful in predicting efficacy of therapeutics in clinical IPF. Read More

    A comparative global phosphoproteomics analysis of obinutuzumab (GA101) versus rituximab (RTX) against RTX sensitive and resistant Burkitt lymphoma (BL) demonstrates differential phosphorylation of signaling pathway proteins after treatment.
    Oncotarget 2017 Dec 9;8(69):113895-113909. Epub 2017 Dec 9.
    Department of Pediatrics, New York Medical College, Valhalla, NY, USA.
    We recently demonstrated that obinutuzumab (GA101), a novel glycoengineered type II CD20 Ab compared to rituximab (RTX) mediates significantly enhanced antibody-dependent cell cytotoxicity (ADCC)and increased overall survival in a Burkitt lymphoma (BL) xenograft non-obese diabetic severe combined immunodeficiency gamma (NSG) model. In this study we compared the phosphoproteomic changes by pathway analysis following obinutuzumab vs RTX against RTX-sensitive (Raji) and -resistant BL (Raji4RH). Phosphoproteomic analyses were performed by mass-spectrometry (MS)-based label-free quantitative phosphoproteomic profiling. Read More

    Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model.
    Stem Cell Res Ther 2018 Jan 22;9(1):12. Epub 2018 Jan 22.
    Department of Biochemistry, Tokyo Dental College, Tokyo, Japan.
    Background: Runt-related transcription factor 2 (RUNX2) haploinsufficiency causes cleidocranial dysplasia (CCD) which is characterized by supernumerary teeth, short stature, clavicular dysplasia, and osteoporosis. At present, as a therapeutic strategy for osteoporosis, mesenchymal stem cell (MSC) transplantation therapy is performed in addition to drug therapy. However, MSC-based therapy for osteoporosis in CCD patients is difficult due to a reduction in the ability of MSCs to differentiate into osteoblasts resulting from impaired RUNX2 function. Read More

    Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient.
    Clin Immunol 2018 Feb 2. Epub 2018 Feb 2.
    Pediatric Onco-Haematology and BMT Unit, Children's Hospital, ASST Spedali Civili of Brescia, Brescia, Italy.
    We describe the case of a child affected by severe combined immunodeficiency (SCID) with adenosine deaminase (ADA) deficiency showing a maternal T-cell engraftment, a finding that has never been reported before. The presence of engrafted maternal T cells was misleading. Although ADA enzymatic levels were suggestive of ADA-SCID, the child did not present the classical signs of ADA deficiency; therefore, the initial diagnosis was of a conventional SCID. Read More

    Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
    J Allergy Clin Immunol 2018 Jan 10. Epub 2018 Jan 10.
    Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, Houston, Tex. Electronic address:
    Background: Heterozygous gain-of-function mutations in PI3K110δ lead to lymphadenopathy, lymphoid hyperplasia, EBV and cytomegalovirus viremia, and sinopulmonary infections.

    Objective: The known role of natural killer (NK) cell function in the control of EBV and cytomegalovirus prompted us to investigate the functional and phenotypic effects of PI3K110δ mutations on NK cell subsets and cytotoxic function.

    Methods: Mutations in patients were identified by using whole-exome or targeted sequencing. Read More

    Creating effective biocontainment facilities and maintenance protocols for raising specific pathogen-free, severe combined immunodeficient (SCID) pigs.
    Lab Anim 2018 Jan 1:23677217750691. Epub 2018 Jan 1.
    1 Department of Animal Science, 1177 Iowa State University , USA.
    Severe combined immunodeficiency (SCID) is defined by the lack of an adaptive immune system. Mutations causing SCID are found naturally in humans, mice, horses, dogs, and recently in pigs, with the serendipitous discovery of the Iowa State University SCID pigs. As research models, SCID animals are naturally tolerant of xenotransplantation and offer valuable insight into research areas such as regenerative medicine, cancer therapy, as well as immune cell signaling mechanisms. Read More

    Hematopoietic cell transplantation in primary immunodeficiency - conventional and emerging indications.
    Expert Rev Clin Immunol 2018 Feb 16;14(2):103-114. Epub 2018 Jan 16.
    a Institute of Cellular Medicine , Newcastle University , Newcastle Upon Tyne , UK.
    Introduction: Hematopoietic stem cell transplantation (HSCT) is an established curative treatment for many primary immunodeficiencies. Advances in donor selection, graft manipulation, conditioning and treatment of complications, mean that survival for many conditions is now around 90%. Next generation sequencing is identifying new immunodeficiencies, many of which are treatable with HSCT. Read More

    A Miniature Swine Model for Stem Cell-Based De Novo Regeneration of Dental Pulp and Dentin-Like Tissue.
    Tissue Eng Part C Methods 2018 Feb 3;24(2):108-120. Epub 2018 Jan 3.
    1 Department of Bioscience Research, College of Dentistry, University of Tennessee Health Science Center , Memphis, Tennessee.
    The goal of this study was to establish mini-swine as a large animal model for stem cell-based pulp regeneration studies. Swine dental pulp stem cells (sDPSCs) were isolated from mini-swine and characterized in vitro. For in vivo studies, we first employed both ectopic and semi-orthotopic study models using severe combined immunodeficiency mice. Read More

    Modulatory effect of voriconazole on the production of proinflammatory cytokines in experimental cryptococcosis in mice with severe combined immunodeficiency.
    J Mycol Med 2017 Dec 19. Epub 2017 Dec 19.
    Universidade Federal de Alfenas, Alfenas, rua Gabriel Monteiro da Silva, 700 Alfenas, 37130-001 Minas Gerais, Brazil.
    Cryptococcosis is a subacute or chronic disease. For many years, amphotericin B has been used in severe fungal infections. Voriconazole is a triazole with high bioavailability, a large distribution volume, and excellent penetration of the central nervous system (CNS). Read More

    Recent advances in understanding the pathogenesis and management of reticular dysgenesis.
    Br J Haematol 2018 Mar 21;180(5):644-653. Epub 2017 Dec 21.
    Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
    Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition. Read More

    Repetitive Maturation of Oocytes From Non-Stimulated Xenografted Ovarian Tissue From a Prepubertal Patient Indicating the Independence of Human Ovarian Tissue.
    Geburtshilfe Frauenheilkd 2017 Dec 18;77(12):1304-1311. Epub 2017 Dec 18.
    Department of Obstetrics and Gynecology, Erlangen University Hospital, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.
    Introduction: Modern anti-cancer strategies have distinctly increased survival rates; nevertheless, often accompanied by sterility. Currently, the only option for preserving fertility in prepubertal females is to cryopreserve ovarian tissue and re-transplant frozen-thawed tissue to restore fertility after treatment. Our aim was to report the occurrence of repetitive antral follicle formation and oocyte maturation in a prepubescent ovarian tissue xenograft without exogenous hormone stimulation. Read More

    Bronchopulmonary infection byin a pediatric patient after hematopoietic progenitor cell transplantation: first report in Mexico.
    J Thorac Dis 2017 Oct;9(10):E899-E902
    Laboratory of Pharmacology, NIP and Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
    is a multiflagellated protozoon which parasitizes the gut of termites and cockroaches. Although L.infection is rare, it can affect lung, maxillary sinuses and genitourinary tract. Read More

    Gain-of-Function Mutations in: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.
    Case Reports Immunol 2017 13;2017:2846928. Epub 2017 Nov 13.
    Ege University Medical Faculty, Department of Pediatric Immunology, Izmir, Turkey.
    Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections.grew in oral mucosa swab. Read More

    Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.
    Front Immunol 2017 4;8:1683. Epub 2017 Dec 4.
    Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
    Germline mutations in the RING finger protein genehave been identified in a combined immunodeficiency disorder called RIDDLE syndrome. Since only two patients have been described with somewhat different phenotypes, there is need to identify further patients. Here, we report on two Polish siblings with RNF168 deficiency due to homozygosity for a novel frameshift mutation, c. Read More

    Newborn screening for severe combined immunodeficiency: a primer for clinicians.
    CMAJ 2017 Dec;189(50):E1551-E1557
    Department of Pediatrics (Biggs, Turvey), British Columbia Children's Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.

    Severe Dry Eye in CD25 Deficiency Syndrome.
    Eye Contact Lens 2018 Jan;44(1):e1-e3
    Department of Ophthalmology, Faculty of Medicine, Ankara University, Ankara, Turkey.
    CD25 deficiency (Interleukin-2 receptor alpha deficiency) is a rare subtype of combined B- and T-cell immunodeficiency. Recurrent infections and lymphocyte infiltration of multiple tissues are the main clinical presentations. Only four patients have been reported in whom ophthalmological findings were not described. Read More

    Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
    J Allergy Clin Immunol 2017 Dec 11. Epub 2017 Dec 11.
    San Raffaele Telethon Institute for Gene Therapy (TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy. Electronic address:
    Background: Omenn syndrome (OS) is a rare severe combined immunodeficiency associated with autoimmunity and caused by defects in lymphoid-specific V(D)J recombination. Most patients carry hypomorphic mutations in recombination-activating gene (RAG) 1 or 2. Hematopoietic stem cell transplantation is the standard treatment; however, gene therapy (GT) might represent a valid alternative, especially for patients lacking a matched donor. Read More

    Elizabethkingia miricola as an opportunistic oral pathogen associated with superinfectious complications in humoral immunodeficiency: a case report.
    BMC Infect Dis 2017 Dec 12;17(1):763. Epub 2017 Dec 12.
    Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Rudolfa Weigla 12, 53-114, Wroclaw, Poland.
    Background: Elizabethkingia miricola is a rare Gram-negative bacterium found in water and clinical specimens. Typical culturing methods often misidentify Elizabethkingia spp. as Flavobacterium or Chryseobacterium. Read More

    PSMA-targeted polyinosine/polycytosine vector induces prostate tumor regression and invokes an antitumor immune response in mice.
    Proc Natl Acad Sci U S A 2017 Dec 11;114(52):13655-13660. Epub 2017 Dec 11.
    Unit of Cellular Signaling, Department of Biological Chemistry, The Alexander Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 9190411, Israel;
    There is an urgent need for an effective treatment for metastatic prostate cancer (PC). Prostate tumors invariably overexpress prostate surface membrane antigen (PSMA). We designed a nonviral vector, PEI-PEG-DUPA (PPD), comprising polyethylenimine-polyethyleneglycol (PEI-PEG) tethered to the PSMA ligand, 2-[3-(1, 3-dicarboxy propyl)ureido] pentanedioic acid (DUPA), to treat PC. Read More

    Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.
    Clin Case Rep 2017 Dec 6;5(12):2066-2070. Epub 2017 Nov 6.
    Laboratory of Clinical Infectious DiseasesNational Institute of Allergy and Infectious DiseasesBethesdaMarylandUSA.
    Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course. Read More

    IGFBP3 deposited in the human umbilical cord mesenchymal stem cell-secreted extracellular matrix promotes bone formation.
    J Cell Physiol 2017 Dec 8. Epub 2017 Dec 8.
    National and Regional United Engineering Lab of Tissue Engineering, Department of Orthopaedics, Southwest Hospital, the Third Military Medical University, Chongqing, China.
    The extracellular matrix (ECM) contains rich biological cues for cell recruitment, proliferation and even differentiation. The osteoinductive potential of scaffolds could be enhanced through human bone marrow mesenchymal stem cell (hBMSC) directly depositing extracellular matrix (ECM) on surface of scaffolds. However, the role and mechanism of human umbilical cord MSC-secreted ECM in bone formation remain unknown. Read More

    First delivery in a leukemia survivor after transplantation of cryopreserved ovarian tissue, evaluated for leukemia cells contamination.
    Fertil Steril 2018 Jan 29;109(1):48-53. Epub 2017 Nov 29.
    Fertility Preservation, Sheba Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; IVF Unit, Division of Obstetrics and Gynecology, Sheba Medical Center, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:
    Objective: To describe a successful autologous ovarian tissue re-transplantation in a sterile leukemia survivor after evaluation for minimal residual disease and provide a review of the current literature.

    Design: Presentation of a carefully designed workup taken to evaluate tissue for minimal residual disease, its limitations, and applicability to other patients. To date, there have not been any publications of auto-transplantations in leukemia survivors, owing to an estimated high risk for malignancy induction. Read More

    The Boy in the Bubble and the Baby With the Berlin Heart: The Dangers of "Bridge to Decision" in Pediatric Mechanical Circulatory Support.
    ASAIO J 2017 Nov 14. Epub 2017 Nov 14.
    On the day of his birth in 1971, David Vetter was "temporarily" placed in a sterile isolator to wait for a bone marrow donor who would cure his Severe Combined Immunodeficiency Syndrome. After enduring 12 years in isolation, David, now known to the world as "The Boy in the Bubble", received a bone marrow transplant from his unmatched sister and died 4 months later. Like Severe Combined Immunodeficiency Syndrome, pediatric heart failure is a rare and life-threatening condition for which organ transplantation is often the only option for survival. Read More

    Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.
    J Allergy Clin Immunol 2017 Nov 26. Epub 2017 Nov 26.
    Canadian Centre for Primary Immunodeficiency, Immunogenomic Laboratory, Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:
    Background: We previously reported a novel syndrome characterized by combined immunodeficiency associated with severe developmental defects-subsequently known as Roifman-Chitayat syndrome (RCS; OMIM 613328). Linkage analysis identified 2 disease-associated loci.

    Objectives: We sought to identify the genetic defect in these patients and characterize their immunologic cellular abnormalities. Read More

    [Refusal of care by a HIV-positive adolescent: role of the cross-cultural approach].
    Soins Psychiatr 2017 Nov - Dec;38(313):27-30
    Maison de Solenn-MDA, hôpital Cochin, 97, boulevard Port-Royal, 75017 Paris, France.
    The refusal of treatment is frequent in human immunodeficiency virus-positive adolescents. The clinical history of a teenage girl presenting severe immunodepression secondary to the virus, a depressive disorder and a refusal of treatment, illustrates the benefit of combined paediatric, child psychiatric and cross-cultural care as proposed by the Cochin-Paris Adolescent Centre. Working on the meaning of the refusal was a prerequisite for the construction of a care project forming part of a life project, as the psychopathological work could only begin once somatic care ensuring the patient's protection was in place. Read More

    Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy.
    J Vet Intern Med 2018 Jan 24;32(1):465-468. Epub 2017 Nov 24.
    School of Veterinary Medicine, Veterinary Genetics Laboratory, University of California Davis, Davis, CA.
    Background: The carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.

    Hypothesis/objectives: To determine the carrier status of LFS, CA, SCID, and OAAM1 in foals with JIE.

    Animals: Ten foals with JIE. Read More

    A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay.
    Front Immunol 2017 8;8:1470. Epub 2017 Nov 8.
    Department of Pediatrics, Division of Rheumatology, Medical College of Wisconsin, Milwaukee, WI, United States.
    Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Read More

    First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.
    Front Immunol 2017 6;8:1448. Epub 2017 Nov 6.
    Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
    Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth. Herein, we describe the results of the first year of the Israeli SCID newborn screening (NBS) program. This important, life-saving screening test is available at no cost for every newborn in Israel. Read More

    Production and rearing of germ-free X-SCID pigs.
    Exp Anim 2017 Nov 21. Epub 2017 Nov 21.
    Division of Regenerative Medicine, Center for Molecular Medicine, Jichi Medical University.
    Pigs with X-linked severe combined immunodeficiency (X-SCID) caused by a mutation of the interleukin-2 receptor gamma chain gene (IL2RG) are of value for a wide range of studies. However, they do not survive longer than 8 weeks because of their susceptibility to infections. To allow longer survival of X-SCID pigs, the animals must be born and reared under germ-free conditions. Read More

    Immunodeficiency in CHARGE syndrome.
    Am J Med Genet C Semin Med Genet 2017 Dec 21;175(4):516-523. Epub 2017 Nov 21.
    Department of Allergy and Immunology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
    Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T-cell counts, combined T-B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11. Read More

    Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.
    Biol Blood Marrow Transplant 2017 Nov 16. Epub 2017 Nov 16.
    Great Ormond Street Hospital NHS Trust, London, United Kingdom.
    We previously published results for 70 children who received conditioning with treosulfan and cyclophosphamide (n = 30) or fludarabine (n = 40) before undergoing hematopoietic stem cell transplantation (HSCT) for primary immunodeficiency (PID). Toxicity was lower and T cell chimerism was better in the patients receiving fludarabine, but cohort numbers were relatively small and follow-up was short. Here we report outcomes of 160 children who received homogeneous conditioning with treosulfan, fludarabine, and, in most cases, alemtuzumab (n = 124). Read More

    SCID pigs: An emerging large animal NK model.
    J Rare Dis Res Treat 2017 18;2(3):1-6. Epub 2017 Apr 18.
    Genetics and Genomics Graduate Program, Department of Animal Science, Iowa State University, Ames, IA 50011, USA.
    Severe Combined ImmunoDeficiency (SCID) is defined as the lack or impairment of an adaptive immune system. Although SCID phenotypes are characteristically absent of T and B cells, many such SCID cellular profiles include the presence of NK cells. In human SCID patients, functional NK cells may impact the engraftment success of life saving procedures such as bone marrow transplantation. Read More

    B-cell receptor repertoire sequencing in patients with primary immunodeficiency: a review.
    Immunology 2018 Feb 18;153(2):145-160. Epub 2017 Dec 18.
    Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
    The advent of next-generation sequencing (NGS) now allows a detailed assessment of the adaptive immune system in health and disease. In particular, high-throughput B-cell receptor (BCR) repertoire sequencing provides detailed information about the functionality and abnormalities of the B-cell system. However, it is mostly unknown how the BCR repertoire is altered in the context of primary immunodeficiencies (PID) and whether findings are consistent throughout phenotypes and genotypes. Read More

    Reduction of pluripotent gene expression in murine embryonic stem cells exposed to mechanical loading or Cyclo RGD peptide.
    BMC Cell Biol 2017 Nov 14;18(1):32. Epub 2017 Nov 14.
    McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, AB, Canada.
    Background: Self-renewal and differentiation of embryonic stem cells (ESCs) is directed by biological and/or physical cues that regulate multiple signaling cascades. We have previously shown that mESCs seeded in a type I collagen matrix demonstrate a loss of pluripotent marker expression and differentiate towards an osteogenic lineage. In this study, we examined if this effect was mediated in part through Arginylglycylaspartic acid (RGD) dependent integrin activity and/or mechano-transduction. Read More

    Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
    Am J Med Genet A 2018 Jan 12;176(1):75-81. Epub 2017 Nov 12.
    Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail. Read More

    The γ family of cytokines: fine-tuning signals from IL-2 and IL-21 in the regulation of the immune response.
    F1000Res 2017 23;6:1872. Epub 2017 Oct 23.
    Laboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
    Interleukin (IL)-2, IL-4, IL-7, IL-9, IL-15, and IL-21 form a family of cytokines based on the sharing of a receptor component, the common cytokine receptor γ chain, γ, which is encoded by the gene mutated in humans with X-linked severe combined immunodeficiency (XSCID). Together, these cytokines play critical roles in lymphoid development, differentiation, growth, and survival as well as mediating effector function. Here, we provide an overview of the main actions of members of this cytokine family but then primarily focus on IL-2 and IL-21, discussing their dynamic interplay and contributions to a fine-tuned immune response. Read More

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