8,065 results match your criteria Severe Combined Immunodeficiency


Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.

Clin Immunol 2019 Feb 15. Epub 2019 Feb 15.

Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

Severe combined immunodeficiencies (SCID) comprise a group of genetic diseases characterized by abrogated development of T lymphocytes. In some case reports of atypical SCID patients elevated proportions of γδ T lymphocytes have been reported. However, it is unknown whether these γδ T cells modulate or reflect the patient's clinical phenotype. Read More

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http://dx.doi.org/10.1016/j.clim.2018.11.006DOI Listing
February 2019

A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency.

J Allergy Clin Immunol 2019 Feb 13. Epub 2019 Feb 13.

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases, Meibergdreef 9, Amsterdam, The Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, The Netherlands. Electronic address:

We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease that appears progressive and challenging to manage clinically. Read More

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http://dx.doi.org/10.1016/j.jaci.2019.02.003DOI Listing
February 2019

Acquired and Innate Immunity Impairment and Severe Disseminated Infection in a Patient With a NF-κB1 Deficiency.

Front Immunol 2018 29;9:3148. Epub 2019 Jan 29.

Research Institute Hospital 12 Octubre (I+12), Madrid, Spain.

NF-κB1 is a master regulator of both acquired and innate responses. loss-of-function mutations elicit a wide clinical phenotype with asymptomatic individuals at one end of the spectrum and patients with common variable immunodeficiency, combined immunodeficiency or autoinflammation at the other. Impairment of acquired and innate immunity and disseminated infection expands the clinical and immunological phenotype of NF-κB1 deficiency. Read More

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http://dx.doi.org/10.3389/fimmu.2018.03148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362422PMC
January 2019

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.

Int J Hematol 2019 Feb 13. Epub 2019 Feb 13.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

Mutation in the gene encoding tRNA nucleotidyl transferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3'-terminal CCA sequence in tRNA molecules, results in a disorder that features sideroblastic anemia, B-cell immunodeficiency, periodic fever, and developmental delay. Mutations in TRNT1 are also linked to phenotypes including retinitis pigmentosa, cataracts, and cardiomyopathy. To date, it has remained unclear how defective TRNT1 is linked to B-cell deficiency. Read More

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http://link.springer.com/10.1007/s12185-019-02614-0
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http://dx.doi.org/10.1007/s12185-019-02614-0DOI Listing
February 2019
3 Reads

Baboon envelope LVs efficiently transduced human adult, fetal, and progenitor T cells and corrected SCID-X1 T-cell deficiency.

Blood Adv 2019 Feb;3(3):461-475

Centre International de Recherche en Infectiologie, Université Lyon, Université Claude Bernard Lyon 1, INSERM, U1111, Centre National de la Recherche Scientifique, Unité Mixte de Recherche (UMR) 5308, Ecole Normale Supérieure de Lyon, Lyon, France.

T cells represent a valuable tool for treating cancers and infectious and inherited diseases; however, they are mainly short-lived in vivo. T-cell therapies would strongly benefit from gene transfer into long-lived persisting naive T cells or T-cell progenitors. Here we demonstrate that baboon envelope glycoprotein pseudotyped lentiviral vectors (BaEV-LVs) far outperformed other LV pseudotypes for transduction of naive adult and fetal interleukin-7-stimulated T cells. Read More

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http://dx.doi.org/10.1182/bloodadvances.2018027508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373736PMC
February 2019

Increased splenic human CD4:CD8 T cell ratios, serum human interferon-γ and intestinal human interleukin-17 are associated with clinical graft-versus-host disease in humanized mice.

Transpl Immunol 2019 Feb 8. Epub 2019 Feb 8.

School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW 2252, Australia; Molecular Horizons, University of Wollongong, Wollongong, NSW 2252, Australia; Illawarra Health and Medical Research Institute, Wollongong, NSW 2252, Australia. Electronic address:

Graft-versus-host disease (GVHD) is a frequent complication following allogeneic hematopoietic stem cell transplantation (HSCT) with current therapies limited to general immunosuppression. Humanized mouse models of GVHD are emerging as valuable intermediaries to allow translation of findings from allogeneic mouse models to humans to prevent and treat this disease, but such models require further characterization. In this study, humanized mice were generated by injecting immunodeficient non-obese diabetic severe combined immunodeficiency interleukin (IL)-2 receptor γ common chain null (NSG) mice with human peripheral blood mononuclear cells (hPBMCs). Read More

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http://dx.doi.org/10.1016/j.trim.2019.02.003DOI Listing
February 2019
1 Read

Fifteen-minute consultation: Recognising primary immune deficiencies in children.

Arch Dis Child Educ Pract Ed 2019 Feb 7. Epub 2019 Feb 7.

Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.

Children with primary immunodeficiency syndromes present with broad variation of clinical features and the consequences are often severe if not promptly recognised. Here, support is provided for the general paediatrician to recognise primary immunodeficiencies among the many children they meet in their clinical practice. Read More

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http://dx.doi.org/10.1136/archdischild-2018-315484DOI Listing
February 2019
1 Read

Jejuno-jejunal intussusception in a post-lung transplant patient from a gastrojejunostomy tube: A case report.

Int J Surg Case Rep 2019 Jan 31;55:129-131. Epub 2019 Jan 31.

Department of Cardiothoracic Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, United States. Electronic address:

Introduction: Gastro-jejunostomy tube is used for post-pyloric feeding for critical-ill patient who cannot tolerate oral alimentation. Jejuno-jejunal intussusception is a rare complication of gastrojejunostomy tube.

Presentation Of Case: A 39-year-old male with history of severe combined immunodeficiency, Achalasia and end-stage lung disease underwent double lung transplantation. Read More

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http://dx.doi.org/10.1016/j.ijscr.2019.01.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365386PMC
January 2019
1 Read

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Front Pediatr 2018 21;6:426. Epub 2019 Jan 21.

Immunodeficiencies Research Unit at the National Institute of Pediatrics (INP), Mexico City, Mexico.

DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip dysplasia, and other skeletal malformations; as well as a severe combined immunodeficiency, radiosensitivity, and progressive bone marrow failure; or, they may present later in life with hematological neoplasias that respond catastrophically to chemo- and radiotherapy; or, they could be asymptomatic. We describe the clinical, laboratory, and genetic features of five Mexican patients with LIG4 deficiency, together with a review of 36 other patients available in PubMed Medline. Read More

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http://dx.doi.org/10.3389/fped.2018.00426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348249PMC
January 2019
2 Reads

TREC and KREC Levels as a Predictors of Lymphocyte Subpopulations Measured by Flow Cytometry.

Front Physiol 2018 21;9:1877. Epub 2019 Jan 21.

Department of Paediatrics, Sechenov University, Moscow, Russia.

Primary immunodeficiency diseases (PID) is a heterogeneous group of disorders caused by genetic defects of the immune system, which manifests clinically as recurrent infections, autoimmune diseases, or malignancies. Early detection of other PID remains a challenge, particularly in older children due to milder and less specific symptoms, a low level of clinician PID awareness and poor provision of hospital laboratories with appropriate devices. T-cell recombination excision circles (TREC) and kappa-deleting element recombination circle (KREC) in a dried blood spot and in peripheral blood using real-time polymerase chain reaction (PCR) are used as a tool for severe combined immune deficiency but not in PID. Read More

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http://dx.doi.org/10.3389/fphys.2018.01877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348265PMC
January 2019
2 Reads

Current biological therapies for use in HIV-positive patients with psoriasis: case report of gesulkumab used and review.

Dermatol Online J 2018 Nov 15;24(11). Epub 2018 Nov 15.

Center for Dermatology Research, Department of Dermatology, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Background: Psoriasis in human immunodeficiency virus (HIV)-positive patients may be severe. Physicians may be tentative to use biologics in HIV-infected patients.

Objective: We present an HIV-positive patient with psoriasis who was treated with guselkumab. Read More

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November 2018
3 Reads

[ORAI1 variation induced combined immunodeficiency: a case report and literature review].

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):142-145

Department of Pediatrics, Xiangya Hospital of Central South University; Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.

To summarize the clinical manifestations and gene variations of combined immunodeficiency caused by ORAI1 variation with a case report and literature review. The clinical data of the patient who was diagnosed with ORAI1 variation caused combined immunodeficiency in the Department of Pediatrics in Xiangya Hospital of Central South University in February 2018 were extracted and analyzed. The literature till August 2018 was searched with key words of 'ORAI1', and 'immunodeficiency' in both English and Chinese in the database of China national knowledge infrast ructure (CNKI), Wanfang and Pubmed. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.02.015DOI Listing
February 2019
1 Read

Persistent systemic rotavirus vaccine infection in a child with X-linked severe combined immunodeficiency.

J Med Virol 2019 Jan 27. Epub 2019 Jan 27.

Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

Objective: The main aims of the present study were to elucidate the systemic group A rotavirus (RVA) infection and to clarify the genetic changes of persistent virus in the X-linked severe combined immunodeficiency (SCID) patient.

Methods: RotaTeq vaccine (RV5) genotype-specific real-time reverse transcription polymerase chain reaction was used to monitor viral RNA load in serially collected serum and stool samples. Next-generation sequence analysis was used to determine the genotype of the virus by sequencing 11 gene segments. Read More

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http://dx.doi.org/10.1002/jmv.25410DOI Listing
January 2019
2 Reads

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Pediatrics 2019 Jan 25. Epub 2019 Jan 25.

Department of Pediatrics, University of California, San Francisco and Benioff Children's Hospital, San Francisco, California;

Objectives: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Read More

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http://dx.doi.org/10.1542/peds.2018-2300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361357PMC
January 2019
2 Reads
5.473 Impact Factor

[Establishment of A Patient-derived Xenotransplantation Animal Model for Small Cell Lung Cancer and Drug Resistance Model].

Zhongguo Fei Ai Za Zhi 2019 Jan;22(1):6-14

Department of Cardiothoracic Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, China.

Background: Small cell lung cancer (SCLC) is characterized by poor differentiation, high malignancy and rapid growth fast, short double time, early and extensive metastatic malignancy. In clinical, chemotherapy is the main treatment method, while resistance to multiple chemotherapy drugs in six to nine months has been a major clinical challenge in SCLC treatment. Therefore, It has important clinical value to building SCLC aninimal model which is similar to patients with SCLC. Read More

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http://dx.doi.org/10.3779/j.issn.1009-3419.2019.01.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348158PMC
January 2019
1 Read

CRISPR/Cas9-mediated knockout of causes systemic lymphopenia with hypoplastic lymphoid organs in FVB mice.

Lab Anim Res 2018 Dec 31;34(4):166-175. Epub 2018 Dec 31.

Graduate School of Translational Medicine, Seoul National University College of Medicine, Seoul, Korea.

Recombination activating gene-2 () plays a crucial role in the development of lymphocytes by mediating recombination of T cell receptors and immunoglobulins, and loss of causes severe combined immunodeficiency (SCID) in humans. knockout mice created using homologous recombination in ES cells have served as a valuable immunodeficient platform, but concerns have persisted on the specificity of -related phenotypes in these animals due to the limitations associated with the genome engineering method used. To precisely investigate the function of , we recently established a new knockout FVB mouse line () manifesting lymphopenia by employing a CRISPR/Cas9 system at Center for Mouse Models of Human Disease. Read More

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http://dx.doi.org/10.5625/lar.2018.34.4.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333597PMC
December 2018
1 Read

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense Homozygous Mutation.

Front Immunol 2018 7;9:2959. Epub 2019 Jan 7.

Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain.

Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mutation in the gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02959
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http://dx.doi.org/10.3389/fimmu.2018.02959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330288PMC
January 2019
4 Reads

Impact of counseling in knowledge, attitude and practice and association of nutritional status with CD4 count and opportunistic infections of HIV patients of Udupi, India.

Clin Nutr ESPEN 2019 Feb 30;29:154-159. Epub 2018 Nov 30.

Dietetics and Applied Nutrition, Department of Allied Hospitality Studies, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India. Electronic address:

Background And Aims: HIV infection and insufficient nutritional intake form a malicious cycle which leads to immunodeficiency and malnutrition. Thus, this research was done to see the effect of nutritional counseling on knowledge, attitude and practice (KAP) of HIV patients of Udupi district. Also, the rational evidence of association of nutritional status with CD4 counts and opportunistic infections combined are limited which led to design of this study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S24054577183027
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http://dx.doi.org/10.1016/j.clnesp.2018.11.001DOI Listing
February 2019
7 Reads

Identification of key genes and specific pathways potentially involved in androgen-independent, mitoxantrone-resistant prostate cancer.

Cancer Manag Res 2019 3;11:419-430. Epub 2019 Jan 3.

Oncological Surgery, Cancer Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan, China,

Background: Resistance to mitoxantrone (MTX), an anthracenedione antineoplastic agent used in advanced and metastatic androgen-refractory prostate cancer (PCa), seriously limits therapeutic success.

Methods: Xenografts from two human PCa cell lines (VCaP and CWR22) were established in male severe combined immunodeficiency mice, and MTX was administered, with or without concurrent castration, three times a week until tumors relapsed. Microarray technology was used to screen for differentially expressed genes (DEGs) in androgen-independent, MTX-resistant PCa xenografts. Read More

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https://www.dovepress.com/identification-of-key-genes-and-sp
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http://dx.doi.org/10.2147/CMAR.S179467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322516PMC
January 2019
5 Reads

Fn14 Deficiency Ameliorates Anti-dsDNA IgG-Induced Glomerular Damage in SCID Mice.

J Immunol Res 2018 16;2018:1256379. Epub 2018 Dec 16.

Department of Dermatology, The Second Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an 710004, China.

Many studies have demonstrated that anti-dsDNA IgG is closely associated with lupus nephritis. Recently, it was found that activation of the fibroblast growth factor-inducible 14 (Fn14) signaling pathway damages glomerular filtration barrier in MRL/lpr lupus-prone mice. However, MRL/lpr mice have high titers of serum autoantibodies other than anti-dsDNA IgG. Read More

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https://www.hindawi.com/journals/jir/2018/1256379/
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http://dx.doi.org/10.1155/2018/1256379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311848PMC
December 2018
4 Reads

Novel Murine Model of Immune Thrombocytopaenia through Immunized CD41 Knockout Mice.

Thromb Haemost 2019 Jan 10. Epub 2019 Jan 10.

Department of Hematology, Qilu Hospital, Shandong University, Jinan, Shandong, China.

Immune thrombocytopaenia (ITP) is the most common autoimmune bleeding disorder, where platelets are destroyed by auto-antibodies and/or cell-mediated mechanisms. To understand the pathogenesis of ITP and explore novel therapeutics, three types of animal models have been used: passive ITP, secondary ITP and platelet-induced ITP. However, the first two are not ideal for chronic ITP pathophysiology where both T cell and B cell play important roles in platelet destruction. Read More

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http://dx.doi.org/10.1055/s-0038-1677032DOI Listing
January 2019
2 Reads

Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.

Clin Immunol 2019 Jan 7;200:16-18. Epub 2019 Jan 7.

Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Immunology, University Hospital Zurich, Switzerland; Faculty of Medicine, University of Zurich, Zurich, Switzerland. Electronic address:

Severe combined immunodeficiency (SCID) can be caused by deleterious mutations in DCLRE1C, leading to deficient non-homologous end joining by compromising the function of the Artemis protein. This impairs the process of V(D)J recombination of the T- and B-cell receptors and typically results in radiosensitive T, B, NK SCID presenting during the first months of life. We present a case of a 3-year-old girl with two novel compound heterozygous variants in DCLRE1C (c. Read More

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http://dx.doi.org/10.1016/j.clim.2018.12.019DOI Listing
January 2019
3 Reads

hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature.

Allergy Asthma Clin Immunol 2019 5;15. Epub 2019 Jan 5.

1Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.

Background: Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma () gene. Due to a leaky clinical phenotype, diagnosis and appropriate treatment are challenging in these patients.

Case Presentation: We report a 16-year-old patient with a T B NK cellular immunodeficiency due to a novel nonsense mutation in exon 8 (p. Read More

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https://aacijournal.biomedcentral.com/articles/10.1186/s1322
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http://dx.doi.org/10.1186/s13223-018-0317-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320602PMC
January 2019
3 Reads

Lessons Learned from Newborn Screening in Pilot Studies.

N C Med J 2019 Jan-Feb;80(1):54-58

laboratory scientist, Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina.

This commentary discusses the importance of conducting newborn screening pilot studies in North Carolina and the lessons learned from performing three pilots for severe combined immunodeficiency (SCID), mucopolysaccharidosis type I (MPS I), and X-linked adrenoleukodystrophy (X-ALD). Read More

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http://dx.doi.org/10.18043/ncm.80.1.54DOI Listing
January 2019
1 Read

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

J Clin Immunol 2019 Jan 3;39(1):81-89. Epub 2019 Jan 3.

Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA, USA.

The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive granulomas had DNA repair disorders. To support this line of inquiry, we provide additional descriptive data on seven previously reported patients with Nijmegen breakage syndrome (NBS) (n = 3) and ataxia telangiectasia (AT) (n = 4) as well as eight previously unreported patients with iVDRV-induced cutaneous granulomas and DNA repair disorders including NBS (n = 1), AT (n = 5), DNA ligase 4 deficiency (n = 1), and Artemis deficiency (n = 1). Read More

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http://link.springer.com/10.1007/s10875-018-0581-0
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http://dx.doi.org/10.1007/s10875-018-0581-0DOI Listing
January 2019
6 Reads

Clinical management of combined tuberculosis and diabetes.

Int J Tuberc Lung Dis 2018 Dec;22(12):1404-1410

International Union Against Tuberculosis and Lung Disease, Paris, France, London School of Hygiene & Tropical Medicine, London, UK.

Optimal management of combined tuberculosis (TB) and diabetes (DM) is important but challenging in terms of achieving good disease outcomes and avoiding toxicity, drug interactions and other challenges. DM management during anti-tuberculosis treatment, aimed at improving TB treatment outcomes and reducing DM-related morbidity and mortality, consists of glycaemic control and measures to reduce the risk of cardiovascular disease. Metformin, the glucose-lowering drug of choice for TB patients, has no meaningful interaction with rifampicin (RMP), and may reduce TB mortality. Read More

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http://dx.doi.org/10.5588/ijtld.18.0340DOI Listing
December 2018
5 Reads

Risk stratification of immunocompromised children, including pediatric transplant recipients at risk of severe respiratory syncytial virus disease.

Pediatr Transplant 2019 Jan 3:e13336. Epub 2019 Jan 3.

Division of Infectious Diseases, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Background: Respiratory syncytial virus (RSV) infection is associated with increased morbidity and mortality in immunocompromised patients. Our goal was to develop a framework for risk stratifying immunocompromised patients, including transplant patients, for RSV prophylaxis.

Methods: Risk factors for severe RSV disease in immunocompromised patients were identified in the literature and by an expert panel via survey. Read More

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http://doi.wiley.com/10.1111/petr.13336
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http://dx.doi.org/10.1111/petr.13336DOI Listing
January 2019
7 Reads
1.630 Impact Factor

Transcriptome analysis of differentially expressed genes and pathways associated with mitoxantrone treatment prostate cancer.

J Cell Mol Med 2019 Mar 27;23(3):1987-2000. Epub 2018 Dec 27.

Key laboratory of Infection and Immunization, Department of Immunology, College of Basic Medical Sciences, Zhengzhou University, Zhengzhou, Henan, China.

The global physiological function of specifically expressed genes of mitoxantrone (MTX)-resistant prostate cancer (PCa) is unclear. In this study, gene expression pattern from microarray data was investigated for identifying differentially expressed genes (DEGs) in MTX-resistant PCa xenografts. Human PCa cell lines DU145 and PC3 were cultured in vitro and xenografted into severe combined immunodeficiency (SCID) mice, treated with MTX intragastrically, three times a week until all mice relapsed. Read More

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http://dx.doi.org/10.1111/jcmm.14100DOI Listing
March 2019
1 Read

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

J Pediatric Infect Dis Soc 2018 Dec;7(suppl_2):S79-S82

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non-SCID primary immunodeficiencies (PIDs) and outside the early childhood period. In addition, potential donor options for non-SCID PIDs are expanding with increasing success for haploidentical donor transplants. Read More

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http://dx.doi.org/10.1093/jpids/piy114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306013PMC
December 2018
1 Read

Functional Analysis of Human Hepatocytes Isolated From Chimeric Mouse Liver.

Transplant Proc 2018 Dec 30;50(10):3858-3862. Epub 2018 Jun 30.

Department of Virology & Liver Unit, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Chimeric mice with humanized liver were first established by transplanting primary human hepatocytes (PHHs) isolated from a Japanese 27-year-old donor into complementary DNA-urokinase-type plasminogen activator/severe combined immunodeficiency mice. The PHHs from the Japanese donor increased more than 100-fold in the mouse liver, and human hepatocytes purified from the chimeric mouse liver (hcPHs) were successfully transplanted into second-passaged mice. These PHHs and hcPHs can produce human albumin and preserve many liver-specific enzyme genes, which are important for liver function. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00411345183089
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http://dx.doi.org/10.1016/j.transproceed.2018.06.035DOI Listing
December 2018
11 Reads

Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.

Immunol Rev 2019 Jan;287(1):9-19

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

DOCK8 immunodeficiency syndrome (DIDS) is a progressive combined immunodeficiency that can be distinguished from other combined immunodeficiencies or hyperimmunoglobulinemia E syndromes in featuring (a) profound susceptibility to virus infections of the skin, with associated skin cancers, and (b) severe food allergies. The DOCK8 locus has many repetitive sequence elements that predispose to the generation of large germline deletions as well as recombination-mediated somatic DNA repair. Residual DOCK8 protein contributes to the variable disease phenotype. Read More

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http://dx.doi.org/10.1111/imr.12723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350515PMC
January 2019
1 Read

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.

Authors:
Jennifer M Puck

Immunol Rev 2019 Jan;287(1):241-252

Division of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, UCSF, San Francisco, California.

The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening test in a SCID screening program, an infant can receive further diagnostic testing for SCID in the neonatal period, prior to onset of infectious complications, to permit immediate institution of protective measures and definitive, life-saving treatment to establish a functional immune system. SCID screening is now the accepted standard of care in state public health departments across the United States, and it is being adopted in many countries. Read More

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http://dx.doi.org/10.1111/imr.12729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324582PMC
January 2019
1 Read

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.

Immunol Rev 2019 Jan;287(1):62-72

Department of Microbiology and Immunology, Laboratory for Childhood Immunology, KU Leuven, Leuven, Belgium.

Human adenosine deaminase 1 deficiency was described in the 1970s to cause severe combined immunodeficiency. The residual adenosine deaminase activity in these patients was attributed to adenosine deaminase 2. Human adenosine deaminase type 2 deficiency (DADA2), due to biallelic deleterious mutations in the ADA2 gene, is the first described monogenic type of small- and medium-size vessel vasculitis. Read More

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http://dx.doi.org/10.1111/imr.12722DOI Listing
January 2019
6 Reads

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.

Front Immunol 2018 4;9:2756. Epub 2018 Dec 4.

Seattle Children's Research Institute, Seattle, WA, United States.

Primary immunodeficiency disorders (PIDD) comprise a group of life-threatening congenital diseases characterized by absent or impaired immune responses. Despite the fact that effective, curative treatments are available with optimal clinical outcomes when diagnosed early, newborn screening does not exist for the majority of these diseases due to the lack of detectable, specific biomarkers or validated methods for population-based screening. Peptide immunoaffinity enrichment coupled with selected reaction monitoring mass spectrometry (immuno-SRM) is a sensitive proteomic assay, involving antibody-mediated peptide capture, that allows for concurrent quantification of multiple analytes. Read More

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http://dx.doi.org/10.3389/fimmu.2018.02756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288356PMC
December 2018
2 Reads

Hyperactivation of Oncogenic JAK3 Mutants Depend on ATP Binding to the Pseudokinase Domain.

Front Oncol 2018 3;8:560. Epub 2018 Dec 3.

Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.

Janus kinase 3 (JAK3) tyrosine kinase has a central role in the control of lymphopoiesis, and mutations in JAK3 can lead to either severe combined immunodeficiency or leukemia and lymphomas. JAK3 associates with the common gamma chain (γc) receptor and functions in a heteromeric signaling pair with JAK1. In IL-2 signaling JAK1 is the effector kinase for STAT5 phosphorylation but the precise molecular regulatory mechanisms of JAK1 and JAK3 and their individual domains are not known. Read More

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http://dx.doi.org/10.3389/fonc.2018.00560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287396PMC
December 2018
2 Reads

Development of Severe Combined Immunodeficient (SCID) Pig Models for Translational Cancer Modeling: Future Insights on How Humanized SCID Pigs Can Improve Preclinical Cancer Research.

Front Oncol 2018 30;8:559. Epub 2018 Nov 30.

Department of Animal Science, Iowa State University, Ames, IA, United States.

Within the last decade there have been several severe combined immunodeficient (SCID) pig models discovered or genetically engineered. The animals have mutations in , or genes, or combinations thereof, providing SCID pigs with NK cells, but deficient in T and B cells, or deficient in NK, T, and B cells for research studies. Biocontainment facilities and positive pressure isolators are developed to limit pathogen exposure and prolong the life of SCID pigs. Read More

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http://dx.doi.org/10.3389/fonc.2018.00559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284365PMC
November 2018
2 Reads

Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.

J Clin Immunol 2019 Jan 13;39(1):37-44. Epub 2018 Dec 13.

Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.

Purpose: Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID). So far, there is very limited experience with hematopoietic stem cell transplantation (HSCT) as a therapeutic modality in this disorder. Here, we describe two patients with heterozygous STAT1 GOF mutations mimicking CID who were treated with HSCT. Read More

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http://link.springer.com/10.1007/s10875-018-0575-y
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http://dx.doi.org/10.1007/s10875-018-0575-yDOI Listing
January 2019
2 Reads

Dendritic cell-expressed common gamma-chain recruits IL-15 for trans-presentation at the murine immunological synapse.

Wellcome Open Res 2018 17;3:84. Epub 2018 Oct 17.

Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.

Mutations of the common cytokine receptor gamma chain (γc) cause Severe Combined Immunodeficiency characterized by absent T and NK cell development. Although stem cell therapy restores these lineages, residual immune defects are observed that may result from selective persistence of γc-deficiency in myeloid lineages. However, little is known about the contribution of myeloid-expressed γc to protective immune responses. Read More

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http://dx.doi.org/10.12688/wellcomeopenres.14493.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234741.2PMC
October 2018
1 Read

Corrigendum: A Novel Homozygous Mutation Leading to T-B+NK- SCID in Two Brazilian Patients.

Front Pediatr 2018 23;6:358. Epub 2018 Nov 23.

Laboratory of Human Immunology, Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.

[This corrects the article DOI: 10.3389/fped.2018. Read More

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http://dx.doi.org/10.3389/fped.2018.00358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265411PMC
November 2018
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Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.

J Clin Immunol 2018 Nov 24;38(8):917-926. Epub 2018 Nov 24.

Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil.

The results of hematopoietic stem cell transplant (HSCT) for primary immunodeficiency diseases (PID) have been improving over time. Unfortunately, developing countries do not experience the same results. This first report of Brazilian experience of HSCT for PID describes the development and results in the field. Read More

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http://dx.doi.org/10.1007/s10875-018-0564-1DOI Listing
November 2018
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Update on Advances in Hematopoietic Cell Transplantation for Primary Immunodeficiency Disorders.

Immunol Allergy Clin North Am 2019 Feb 1;39(1):113-128. Epub 2018 Nov 1.

Division of Bone Marrow Transplant, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, 2015 Uppergate Drive, ECC Room 418, Atlanta, GA 30030, USA. Electronic address:

Hematopoietic stem cell transplantation (HSCT) in patients with primary immunodeficiency disorders (PIDDs) is being increasingly used as a curative option. Understanding the critical components, such as disease's nature and activity and pre-HSCT and post-HSCT patient care is key to a successful outcome. HSCT should be tailored to the underlying PIDD, as different PIDDs, such as severe combined immune deficiency, Treg dysfunction, and phagocytic disorders, have different transplant approaches. Read More

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http://dx.doi.org/10.1016/j.iac.2018.08.003DOI Listing
February 2019
12 Reads
2.216 Impact Factor

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.

Immunol Allergy Clin North Am 2019 Feb 1;39(1):1-11. Epub 2018 Nov 1.

Department of Pediatrics, University of California San Francisco, Box 3118, 555 Mission Bay Boulevard South, Rm SC-252K, San Francisco, CA 94143, USA.

In the United States, significant improvement in diagnosis and outcomes for children affected with severe combined immunodeficiency has followed institution of newborn screening using an assay to measure T-cell receptor excision circles in newborn dried blood spot specimens. Key to this outcome is the avoidance of infectious complications in infants with severe combined immunodeficiency. Read More

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http://dx.doi.org/10.1016/j.iac.2018.08.002DOI Listing
February 2019
7 Reads

A human gain-of-function STING mutation causes immunodeficiency and gammaherpesvirus-induced pulmonary fibrosis in mice.

J Virol 2018 Nov 21. Epub 2018 Nov 21.

Departments of Pathology and Immunology, Medicine, and Molecular MicrobiologyWashington University School of Medicine, Saint Louis, MO 63110

We previously generated STING N153S knockin mice that have a human disease-associated gain-of-function mutation in STING. Patients with this mutation (STING N154S in human) develop STING-associated vasculopathy with onset in infancy (SAVI), a severe pediatric autoinflammatory disease characterized by pulmonary fibrosis. Since this mutation promotes up-regulation of antiviral type I interferon-stimulated genes (ISGs), we hypothesized that STING N153S knockin mice may develop more severe autoinflammatory disease in response to a virus challenge. Read More

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http://dx.doi.org/10.1128/JVI.01806-18DOI Listing
November 2018
10 Reads

Repurposing existing drugs: identification of irreversible IMPDH inhibitors by high-throughput screening.

J Enzyme Inhib Med Chem 2019 Dec;34(1):171-178

a Division of Applied Bioscience, Graduate School of Agriculture , Hokkaido University , Sapporo , Japan.

Inosine 5'-monophosphate dehydrogenase (IMPDH) is an essential enzyme for the production of guanine nucleotides. Disruption of IMPDH activity has been explored as a therapeutic strategy for numerous purposes, such as for anticancer, immunosuppression, antiviral, and antimicrobial therapy. In the present study, we established a luciferase-based high-throughput screening system to identify IMPDH inhibitors from our chemical library of known bioactive small molecules. Read More

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https://www.tandfonline.com/doi/full/10.1080/14756366.2018.1
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http://dx.doi.org/10.1080/14756366.2018.1540474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249553PMC
December 2019
21 Reads

The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.

Front Immunol 2018 2;9:2554. Epub 2018 Nov 2.

Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.

Early diagnosis of primary immunodeficiency disorders (PID) is vital and allows directed treatment, especially in syndromes with severe or profound combined immunodeficiency. In PID patients with perinatal CMV or other opportunistic, invasive infections (e.g. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02554
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http://dx.doi.org/10.3389/fimmu.2018.02554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224452PMC
November 2018
14 Reads

Cost-effectiveness of the SQ HDM SLIT-tablet for the treatment of allergic asthma in three Eastern European Countries.

Eur Ann Allergy Clin Immunol 2018 Nov 12. Epub 2018 Nov 12.

ALK-Abelló, Denmark.

Summary: The standardized quality (SQ®) house dust mite (HDM) sublingual immunotherapy (SLIT)-tablet (acarizax®, ALK-Abelló A/S, Hørsholm, Denmark) is an allergy immunotherapy tablet for people with allergic respiratory disease. This analysis aims to assess the cost-effectiveness of the SQ HDM SLIT-tablet from the perspective of three Eastern European countries: Czech Republic, Poland and Slovakia. A cost-utility model per country was developed, which compared the SQ HDM SLIT-tablet as add-on to pharmacotherapy with pharmacotherapy alone in patients with HDM allergic asthma (AA) over a five year time horizon. Read More

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http://dx.doi.org/10.23822/EurAnnACI.1764-1489.78DOI Listing
November 2018
4 Reads