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severe combined immune deficiency

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https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#1
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29102562/prostaglandin-e2-increases-lentiviral-vector-transduction-efficiency-of-adult-human-hematopoietic-stem-and-progenitor-cells
#2
Garrett C Heffner, Melissa Bonner, Lauryn Christiansen, Francis J Pierciey, Dakota Campbell, Yegor Smurnyy, Wenliang Zhang, Amanda Hamel, Seema Shaw, Gretchen Lewis, Kendrick A Goss, Olivia Garijo, Bruce E Torbett, Holly Horton, Mitchell H Finer, Philip D Gregory, Gabor Veres
Gene therapy currently in development for hemoglobinopathies utilizes ex vivo lentiviral transduction of CD34(+) hematopoietic stem and progenitor cells (HSPCs). A small-molecule screen identified prostaglandin E2 (PGE2) as a positive mediator of lentiviral transduction of CD34(+) cells. Supplementation with PGE2 increased lentiviral vector (LVV) transduction of CD34(+) cells approximately 2-fold compared to control transduction methods with no effect on cell viability. Transduction efficiency was consistently increased in primary CD34(+) cells from multiple normal human donors and from patients with β-thalassemia or sickle cell disease...
October 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29094026/establishing-a-colorectal-cancer-liver-metastasis-patient-derived-tumor-xenograft-model-for-the-evaluation-of-personalized-chemotherapy
#3
Joohee Jung, Jisup Kim, Hyun Kyung Lim, Kyoung Mee Kim, Yun Sun Lee, Joon Seong Park, Dong Sup Yoon
Purpose: In order to suggest optimal anticancer drugs for patient-tailored chemotherapy, we developed a colorectal cancer (CRC)-liver metastasis patient-derived tumor xenograft (PDTX) model. Methods: Tissue obtained from a patient with CRC-liver metastasis (F0) was transplanted in a nonobese female mouse with diabetic/severe combined immune deficiency (F1) and the tumor tissue was retransplanted into nude mice (F2). When tumor volumes reached ~500 mm(3), the F2 mice were randomly divided into 4 groups (n = 4/group) of doxorubicin, cisplatin, docetaxel, and nontreated control groups...
October 2017: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/29062247/frequency-of-mycobacterium-bovis-and-mycobacteria-in-primary-immunodeficiencies
#4
Ezgi Ulusoy, Neslihan Edeer Karaca, Güzide Aksu, Cengiz Çavuşoğlu, Necil Kütükçüler
AIM: Susceptibility to mycobacterial diseases is observed in some primary immunodeficiency diseases. In this study, we aimed to evaluate mycobacterial infections in primary immunodeficiency diseases. MATERIAL AND METHODS: Patients under follow-up by Ege University Pediatric Immunology Department for severe combined and combined immunodeficiencies, interleukin 12/ interferon gamma receptor deficiency, nuclear factor kappa-beta essential modulator deficiency and chronic granulomatosis disease were evaluated retrospectively in terms of the frequency and characteristics of mycobacterial infections using a questionnaire form for demographic properties, clinical features and laboratory tests...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29058101/dock8-deficiency-presenting-as-an-ipex-like-disorder
#5
Fayhan J Alroqi, Louis-Marie Charbonnier, Sevgi Keles, Fatima Ghandour, Pierre Mouawad, Rami Sabouneh, Reem Mohammed, Abduarahman Almutairi, Janet Chou, Michel J Massaad, Raif S Geha, Zeina Baz, Talal A Chatila
PURPOSE: The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-combined immunodeficiency whose clinical spectra include recurrent infections, autoimmunity, malignancies, elevated serum IgE, eczema, and food allergies. Here, we report on patients with loss of function DOCK8 mutations with profound immune dysregulation suggestive of an immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)-like disorder. METHODS: Immunophenotyping of lymphocyte subpopulations and analysis of DOCK8 protein expression were evaluated by flow cytometry...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29051008/dna-recombination-defects-in-kuwait-clinical-immunologic-and-genetic-profile
#6
Waleed Al-Herz, Michel J Massaad, Janet Chou, Luigi D Notarangelo, Raif S Geha
Defects in DNA Recombination due to mutations in RAG1/2 or DCLRE1C result in combined immunodeficiency (CID) with a range of disease severity. We present the clinical, immunologic and molecular characteristics of 21 patients with defects in RAG1, RAG2 or DCLRE1C, who accounted for 24% of combined immune deficiency cases in the Kuwait National Primary Immunodeficiency Disorders Registry. The distribution of the patients was as follow: 8 with RAG1 deficiency, 6 with RAG2 deficiency and 7 with DCLRE1C deficiency...
October 16, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29045457/dietary-vitamin-d3-deficiency-exacerbates-sinonasal-inflammation-and-alters-local-25-oh-d3-metabolism
#7
Jennifer K Mulligan, Whitney N Pasquini, William W Carroll, Tucker Williamson, Nicholas Reaves, Kunal J Patel, Elliott Mappus, Rodney J Schlosser, Carl Atkinson
RATIONALE: Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) have been shown to be vitamin D3 (VD3) deficient, which is associated with more severe disease and increased polyp size. To gain mechanistic insights into these observational studies, we examined the impact of VD3 deficiency on inflammation and VD3 metabolism in an Aspergillus fumigatus (Af) mouse model of chronic rhinosinusitis (Af-CRS). METHODS: Balb/c mice were fed control or VD3 deficient diet for 4 weeks...
2017: PloS One
https://www.readbyqxmd.com/read/29036015/transient-pituitary-acth-dependent-cushing-syndrome-caused-by-an-immune-checkpoint-inhibitor-combination
#8
Jeremy Lupu, Cécile Pages, Pauline Laly, Julie Delyon, Marie Laloi, Antoine Petit, Nicole Basset-Seguin, Imen Oueslati, Anne-Marie Zagdanski, Jacques Young, Clara Bouche, Céleste Lebbé, Jean-François Gautier
Immune checkpoint inhibitors have improved survival in numerous advanced malignancies, but are associated with a number of immune-related adverse events, including endocrinopathies. Endogenous Cushing's syndrome (CS) is a rare disorder resulting from exposure to high levels of circulating cortisol. CS can be caused either by adrenal cortex tumors or hyperplasia or by pituitary or extra-pituitary tumors over-secreting ACTH (known as ACTH-dependent CS). We report the first case of transient ACTH-dependent CS, which appeared after combined ipilimumab and nivolumab therapy...
December 2017: Melanoma Research
https://www.readbyqxmd.com/read/29029813/innovative-therapy-monoclonal-antibodies-and-beyond
#9
M Di Nicola, L Apetoh, M Bellone, M P Colombo, G Dotti, S Ferrone, M Muscolini, J Hiscott, A Anichini, S M Pupa, F de Braud, M Del Vecchio
The seventh Edition of "Innovative Therapy, Monoclonal Antibodies and Beyond" Meeting took place in Milan, Italy, on January 27, 2017. The two sessions of the meeting were focused on: 1) Preclinical assays and novel biotargets; and 2) monoclonal antibodies, cell therapies and targeted molecules. Between these two sessions, a lecture entitled "HLA-antigens modulation and response to immune checkpoint inhibitor immunotherapy" was also presented. Despite the impressive successes in cancer immunotherapy in recent years, the response to immune based interventions occurs only in a minority of patients (∼20%)...
October 5, 2017: Cytokine & Growth Factor Reviews
https://www.readbyqxmd.com/read/29021228/immune-reconstitution-and-survival-of-100-scid-patients-post-hematopoietic-cell-transplant-a-pidtc-natural-history-study
#10
Jennifer Heimall, Brent R Logan, Morton J Cowan, Luigi D Notarangelo, Linda M Griffith, Jennifer M Puck, Donald B Kohn, Michael A Pulsipher, Suhag Parikh, Caridad Martinez, Neena Kapoor, Richard O'Reilly, Michael Boyer, Sung-Yun Pai, Frederick Goldman, Lauri Burroughs, Sharat Chandra, Morris Kletzel, Monica Thakar, James Connelly, Geoff Cuvelier, Blachy Davila, Evan Shereck, Alan Knutsen, Kathleen E Sullivan, Kenneth DeSantes, Alfred Gillio, Elie Haddad, Aleksandra Petrovic, Troy Quigg, Angela R Smith, Elizabeth Stenger, Ziyan Yin, William T Shearer, Thomas Fleisher, Rebecca H Buckley, Christopher C Dvorak
The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling children with severe combined immunodeficiency (SCID) to a prospective natural history study. We analyzed patients treated with allogeneic hematopoietic cell transplantation (HCT) from 2010-2014, including 68 with typical SCID and 32 with leaky SCID, Omenn Syndrome or Reticular Dysgenesis. Most (59%) were diagnosed by newborn screening or family history. The 2-year overall survival (OS) was 90%but was 95% for those infection-free at HCT vs...
October 11, 2017: Blood
https://www.readbyqxmd.com/read/28971166/somatic-hla-mutations-expose-the-role-of-class-i-mediated-autoimmunity-in-aplastic-anemia-and-its-clonal-complications
#11
Daria V Babushok, Jamie L Duke, Hongbo M Xie, Natasha Stanley, Jamie Atienza, Nieves Perdigones, Peter Nicholas, Deborah Ferriola, Yimei Li, Hugh Huang, Wenda Ye, Jennifer J D Morrissette, Jane Kearns, David L Porter, Gregory M Podsakoff, Laurence C Eisenlohr, Jaclyn A Biegel, Stella T Chou, Dimitrios S Monos, Monica Bessler, Timothy S Olson
Acquired aplastic anemia (aAA) is an acquired deficiency of early hematopoietic cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) and leukemia. Although its exact pathogenesis is unknown, aAA is thought to be driven by Human Leukocyte Antigen (HLA)-restricted T cell immunity, with earlier studies favoring HLA class II-mediated pathways. Using whole exome sequencing (WES), we recently identified two aAA patients with somatic mutations in HLA class I genes...
October 10, 2017: Blood Advances
https://www.readbyqxmd.com/read/28961694/a-severe-neonatal-lymphopenia-associated-with-administration-of-azathioprine-to-the-mother-in-a-context-of-crohn-s-disease
#12
C Thomas, C Monteil-Ganiere, S Mirallié, C Hémont, C Dert, A Léger, C Joyau, D Caldari, M Audrain
Azathioprine is commonly used in Crohn's Diseases. It has been administered to many pregnant women over many years without significant side effects. However, pancytopenia and Severe Combined Immune Deficiency-like disease have been reported in infants whose mothers received azathioprine throughout pregnancy. Moreover, myelotoxicity has been described in patients treated with azathioprine and having a low or absent thiopurine S-methyl transferase (TPMT) activity.Here, we describe the case of a new-born girl found highly lymphopenic (<300 CD3+ T cells) after a positive new-born screening for Severe Combined Immuno Deficiency...
September 2, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28959253/methylation-of-the-vitamin-d-receptor-vdr-gene-together-with-genetic-variation-race-and-environment-influence-the-signaling-efficacy-of-the-toll-like-receptor-2-1-vdr-pathway
#13
Vanessa Meyer, Donovan Sean Saccone, Fidele Tugizimana, Furaha Florence Asani, Tamsyn Jacki Jeffery, Liza Bornman
BACKGROUND: The disparity in prevalence of infectious diseases across the globe is common knowledge. Vitamin D receptor (VDR)-mediated toll-like receptor (TLR) 2/1 signaling produces antimicrobial peptides, which is critical as a first line of defense in innate immunity. Numerous studies disclosed the independent role of genetic polymorphisms in this pathway, vitamin D status or season and more recently epigenetics, as factors contributing to infectious disease predisposition. Few studies address the interaction between environment, genetics, and epigenetics...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28955032/clinical-responses-to-adoptive-t-cell-transfer-can-be-modeled-in-an-autologous-immune-humanized-mouse-model
#14
Henrik Jespersen, Mattias F Lindberg, Marco Donia, Elin M V Söderberg, Rikke Andersen, Ulrich Keller, Lars Ny, Inge Marie Svane, Lisa M Nilsson, Jonas A Nilsson
Immune checkpoint inhibitors and adoptive cell transfer (ACT) of autologous tumor-infiltrating T cells have shown durable responses in patients with melanoma. To study ACT and immunotherapies in a humanized model, we have developed PDXv2.0 - a melanoma PDX model where tumor cells and tumor-infiltrating T cells from the same patient are transplanted sequentially in non-obese diabetic/severe combined immune-deficient/common gamma chain (NOG/NSG) knockout mouse. Key to T-cell survival/effect in this model is the continuous presence of interleukin-2 (IL-2)...
September 27, 2017: Nature Communications
https://www.readbyqxmd.com/read/28941161/from-clinical-observations-and-molecular-dissection-to-novel-therapeutic-strategies-for-primary-immunodeficiency-disorders
#15
REVIEW
Hans D Ochs, Daniel Petroni
The field of primary immunodeficiency diseases (PID) is rapidly expanding with more than 300 genetically defined disorders that have been clinically described and molecularly analyzed. The molecular dissection of these entities has led to the discovery of new immunologic pathways and to novel and effective disease-specific therapies. This review provides a summary of these primary immune defects categorized by clinical phenotype and molecular similarity as defined by the International Union of Immunologic Societies (IUIS) Expert Committee for PID...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28938259/hepatic-legionella-pneumophila-infection-in-an-infant-with-severe-combined-immunodeficiency
#16
Rotem Lapidot, Laila Alawdah, J R Köhler, Vera Paulson, Ofer Levy
Rare cases of extrapulmonary involvement in Legionella spp. infections have been described, mostly in immunocompromised adults. We report a case of a 2 month old male with reticular dysgenesis variant of severe combined immune deficiency (SCID) with multiple liver lesions. Core-needle biopsies of one liver lesion demonstrated Gram-negative bacilli and a broad-spectrum polymerase chain reaction (PCR) assay detected Legionella pneumophilia.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28932937/foxn1-deficiency-from-the-discovery-to-novel-therapeutic-approaches
#17
REVIEW
Vera Gallo, Emilia Cirillo, Giuliana Giardino, Claudio Pignata
Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28932225/expression-and-function-of-the-cholinergic-system-in-immune-cells
#18
REVIEW
Takeshi Fujii, Masato Mashimo, Yasuhiro Moriwaki, Hidemi Misawa, Shiro Ono, Kazuhide Horiguchi, Koichiro Kawashima
T and B cells express most cholinergic system components-e.g., acetylcholine (ACh), choline acetyltransferase (ChAT), acetylcholinesterase, and both muscarinic and nicotinic ACh receptors (mAChRs and nAChRs, respectively). Using ChAT(BAC)-eGFP transgenic mice, ChAT expression has been confirmed in T and B cells, dendritic cells, and macrophages. Moreover, T cell activation via T-cell receptor/CD3-mediated pathways upregulates ChAT mRNA expression and ACh synthesis, suggesting that this lymphocytic cholinergic system contributes to the regulation of immune function...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28861848/update-of-hiv-associated-sensory-neuropathies
#19
REVIEW
Angela Aziz-Donnelly, Taylor B Harrison
PURPOSE OF REVIEW: HIV-sensory neuropathy (HIV-SN) remains a common complication of HIV infection and may be associated with significant morbidity due to neuropathic pain. The overall purpose of this review is to discuss trends in the changing epidemiology in HIV-SN, new data regarding the pathophysiology of the condition, and discuss approaches to management. RECENT FINDINGS: While HIV-SN has been historically considered the most common neurological complication of HIV infection, improved accessibility to effective combination antiretroviral therapy (cART), use of less neurotoxic antiretroviral medication regimens, and trends towards earlier introduction of treatment have impacted the condition: overall incident HIV-SN is likely decreased compared to prior rates and patients afflicted by HIV-SN may more frequently have asymptomatic or subclinical disease...
August 31, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28842866/adenosine-deaminase-ada-deficient-severe-combined-immune-deficiency-scid-molecular-pathogenesis-and-clinical-manifestations
#20
REVIEW
Kathryn L Bradford, Federico A Moretti, Denise A Carbonaro-Sarracino, Hubert B Gaspar, Donald B Kohn
Deficiency of adenosine deaminase (ADA, EC3.5.4.4), a housekeeping enzyme of purine metabolism encoded by the Ada gene, is a cause of human severe combined immune deficiency (SCID). Numerous deleterious mutations occurring in the ADA gene have been found in patients with profound lymphopenia (T(-) B(-) NK(-)), thus underscoring the importance of functional purine metabolism for the development of the immune defense. While untreated ADA SCID is a fatal disorder, there are multiple life-saving therapeutic modalities to restore ADA activity and reconstitute protective immunity, including enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) with autologous gene-corrected hematopoietic stem cells (HSC)...
October 2017: Journal of Clinical Immunology
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