keyword
MENU ▼
Read by QxMD icon Read
search

severe combined immune deficiency

keyword
https://www.readbyqxmd.com/read/29296855/cadherin-17-mutation-associated-with-leaky-severe-combined-immune-deficiency-is-corrected-by-hsct
#1
Angela R Smith, Ioanna A Rota, Stefano Maio, Michel J Massaad, Troy C Lund, Luigi D Notarangelo, Georg A Holländer, Bruce R Blazar
CDH17 is expressed in human thymic epithelial cells.CDH17 mutations may be a rare cause of leaky severe combined immune deficiency that can be corrected by HSCT.
October 24, 2017: Blood Advances
https://www.readbyqxmd.com/read/29281994/successful-treatment-of-cerebral-aspergillosis-case-report-of-a-patient-with-t-cell-large-granular-lymphocytic-leukemia-t-lgl
#2
Amin T Turki, Jassin Rashidi-Alavijeh, Jan Dürig, Guido Gerken, Peter-Michael Rath, Oliver Witzke
BACKGROUND: Invasive aspergillosis involving patients with neutropenia or severe immunosuppression, such as patients with hematologic malignancies is associated with high mortality. Patients with T-cell large granular lymphocytic leukemia (T-LGL) on the other hand are considered to be less vulnerable for severe opportunistic fungal infection as their course of disease is chronic and marked by less violent cytopenia then in e.g. Aplastic Anemia. Only neutropenia is regarded as independent risk factor for severe opportunistic infection in T-LGL patients...
December 28, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29223537/rankl-signaling-sustains-primary-tumor-growth-in-genetically-engineered-mouse-models-of-lung-adenocarcinoma
#3
Julien Faget, Caroline Contat, Nadine Zangger, Solange Peters, Etienne Meylan
HYPOTHESIS: Non-small cell lung cancer (NSCLC) is the leading cause of cancer mortality. Recent retrospective clinical analyses suggest that blocking the receptor activator of NF-κB (RANK) signaling pathway inhibits the growth of NSCLC and might represent a new treatment strategy. METHODS: RANK and RANKL expression in human lung adenocarcinoma was interrogated from publicly available gene expression datasets. Several genetically engineered mouse models were used to evaluate treatment efficacy of RANK-Fc to block RANKL, with primary tumor growth measured longitudinally using micro-computed tomography...
December 6, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29174094/missense-mutation-of-ttc7a-mimicking-tricho-hepato-enteric-sd-the-syndrome-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#4
João Farela Neves, Isabel Afonso, Luis Borrego, Catarina Martins, Ana Isabel Cordeiro, Conceição Neves, Caroline Lacoste, Catherine Badens, Alexandre Fabre
Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29173971/beyond-bystanders-myeloid-cells-in-chronic-lymphocytic-leukemia
#5
Bola S Hanna, Selcen Öztürk, Martina Seiffert
Tumor-promoting inflammation and escape from immune-mediated tumor destruction have been recognized as hallmarks of cancer, and myeloid cells are key players in these processes. By exploiting the tremendous plasticity of myeloid cells, tumors induce a variety of tumor-supportive and immunosuppressive cell phenotypes like tumor-associated macrophages (TAMs) and myeloid-derived suppressor cells (MDSCs). The relevance of these cell types in hematopoietic malignancies has only recently gained a stronger attention...
November 21, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/29167229/embryonic-lethality-and-host-immunity-of-rela-deficient-mice-are-mediated-by-both-apoptosis-and-necroptosis
#6
Chengxian Xu, Xiaoxia Wu, Xixi Zhang, Qun Xie, Cunxian Fan, Haibing Zhang
In mammalian cells, signaling pathways triggered by TNF can be switched from NF-κB activation to apoptosis and/or necroptosis. The in vivo mechanisms underlying the mutual regulation of these three signaling pathways are poorly understood. In this article, we report that the embryonic lethality of RelA-deficient mice is partially prevented by the deletion of Rip3 or Mlkl, but it is fully rescued by the combined ablation of Fadd and Rip3 or Mlkl or by blocking RIP1 kinase activity (RIP1K45A). RelA-/-Fadd-/-Rip3-/- triple-knockout (TKO) and RelA-/-Rip1K45A/K45A mice displayed bacterial pneumonia leading to death ∼2 wk after birth...
January 1, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29163546/glucose-6-phosphatase-catalytic-subunit-3-g6pc3-deficiency-associated-with-autoinflammatory-complications
#7
Anoop Mistry, Thomas Scambler, David Parry, Mark Wood, Gabriela Barcenas-Morales, Clive Carter, Rainer Doffinger, Sinisa Savic
G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c.130 C>T mutation, but who have clinical phenotypes that are typical for a systemic autoinflammatory syndrome. The index case presented with combination of unexplained fevers, severe mucosal ulcers, abdominal symptoms, and inflammatory arthritis. He eventually fully responded to anti-TNF therapy...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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%)...
December 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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
68869
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"