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https://www.readbyqxmd.com/read/28806273/the-changing-landscape-of-gene-editing-in-hematopoietic-stem-cells-a-step-towards-cas9-clinical-translation
#1
Daniel P Dever, Matthew H Porteus
PURPOSE OF REVIEW: Since the discovery two decades ago that programmable endonucleases can be engineered to modify human cells at single nucleotide resolution, the concept of genome editing was born. Now these technologies are being applied to therapeutically relevant cell types, including hematopoietic stem cells (HSC), which possess the power to repopulate an entire blood and immune system. The purpose of this review is to discuss the changing landscape of genome editing in hematopoietic stem cells (GE-HSC) from the discovery stage to the preclinical stage, with the imminent goal of clinical translation for the treatment of serious genetic diseases of the blood and immune system...
August 12, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28806251/pet-ct-in-an-8-year-old-girl-with-epstein-barr-virus-associated-smooth-muscle-tumor
#2
Ishan Garg, Maria J Baladron Zanetti, Saba Yasir, Ajit H Goenka, Ayse T Kendi
Epstein-Barr virus-associated smooth muscle tumor is a rare indolent neoplasm, which can occur in unusual locations. It has been reported in immunosuppressed individuals in only 3 settings: posttransplant, human immunodeficiency virus infection, and primary immunodeficiency. Here, we present CT, MRI, and F-FDG PET/CT findings of Epstein-Barr virus-associated smooth muscle tumor in an 8-year-old girl with primary immunodeficiency and metachronous adrenal involvement.This is an open access article distributed under the Creative Commons Attribution License 4...
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28805315/a-comparison-of-clinical-and-immunologic-phenotypes-in-familial-and-sporadic-forms-of-common-variable-immunodeficiency
#3
Amir Valizadeh, Reza Yazdani, Gholamreza Azizi, Hassan Abolhassani, Asghar Aghamohammadi
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency disease and its prevalence varies significantly among different population. Minority of CVID patients present a familial aggregation suggesting a higher probability of heritable genetic defects. A total of 235 registered CVID patients were evaluated in this cohort study. Familial and sporadic patients were stratified and demographic information, clinical records, laboratory and molecular data were compared among these two groups of patients...
August 11, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28804486/first-association-of-interleukin-12-receptor-beta-1-deficiency-with-sj%C3%A3-gren-s-syndrome
#4
Georgios Sogkas, Faranaz Atschekzei, Vivien Schacht, Christian von Falck, Alexandra Jablonka, Roland Jacobs, Matthias Stoll, Torsten Witte, Reinhold E Schmidt
INTRODUCTION: Interleukin 12 receptor beta 1 (IL12Rβ1) deficiency is a primary immunodeficiency resulting mainly in susceptibility to opportunistic infection by non-tuberculous, environmental mycobacteria and severe infection caused by Salmonella spp. Till now, less than 300 patients with IL12Rβ1 deficiency have been reported. Among them, only three have been described to develop autoimmunity. CASE PRESENTATION: We present the case of a 50-year-old male with IL12Rβ1 deficiency due to compound heterozygosity [c...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28803389/gastrointestinal-manifestations-of-stat3-deficient-hyper-ige-syndrome
#5
Manish Arora, Preet Bagi, Anna Strongin, Jennifer Heimall, Xiongce Zhao, Monica G Lawrence, Apurva Trivedi, Carolyn Henderson, Amy Hsu, Martha Quezado, David E Kleiner, Aradhana M Venkatesan, Steven M Holland, Alexandra F Freeman, Theo Heller
OBJECTIVE: STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations. We sought to describe the gastrointestinal (GI) manifestations of this disease. METHODS: Seventy subjects aged five to 60 years with a molecular diagnosis of AD-HIES were evaluated at the National Institutes of Health (NIH)...
August 13, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28791687/skin-signs-of-primary-immunodeficiencies-how-to-find-the-genes-to-check
#6
REVIEW
M Ettinger, J Schreml, K Wirsching, M Berneburg, S Schreml
Primary immunodeficiencies (PIDs) are a heterogeneous group of rare diseases that result from defects in immune system development and/or function. The clinical manifestations of PIDs are highly variable, but most disorders involve at least an increased susceptibility to infection. Furthermore, cutaneous manifestations are very common in PIDs. As an easy accessible organ, skin canbecrucial for early diagnosis and treatment. This is relevant for preventing significant disease-associated morbidity and mortality...
August 9, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28791010/uses-of-next-generation-sequencing-technologies-for-the-diagnosis-of-primary-immunodeficiencies
#7
REVIEW
Michael Seleman, Rodrigo Hoyos-Bachiloglu, Raif S Geha, Janet Chou
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies have been critical for expediting the discovery of novel genetic defects underlying PIDs, expanding our knowledge of the complex clinical phenotypes associated with PIDs, and in shifting paradigms of PID pathogenesis. Once considered Mendelian, monogenic, and completely penetrant disorders, genomic studies have redefined PIDs as a heterogeneous group of diseases found in the global population that may arise through multigenic defects, non-germline transmission, and with variable penetrance...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28791007/prospective-study-of-a-cohort-of-russian-nijmegen-breakage-syndrome-patients-demonstrating-predictive-value-of-low-kappa-deleting-recombination-excision-circle-krec-numbers-and-beneficial-effect-of-hematopoietic-stem-cell-transplantation-hsct
#8
Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V Davydova, Maria A Gordukova, Dmitrii S Abramov, Galina V Pay, Larisa Shelikhova, Andrey P Prodeus, Mikhail A Maschan, Alexey A Maschan, Anna Shcherbina
BACKGROUND: Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the rarity of the disease in the rest of the world, studies of NBS patients are few. Here, we report a prospective study of a cohort of Russian NBS patients. METHODS: 35 Russian NBS patients of ages 1-19 years, referred to our Center between years 2012 and 2016, were prospectively studied...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28783700/it-s-all-in-the-family
#9
Gabriel K Griffin
CD70-deficiency causes primary immunodeficiency and susceptibility to EBV-driven lymphoma.
March 3, 2017: Science Immunology
https://www.readbyqxmd.com/read/28783693/primary-immunodeficiencies-suggest-redundancy-within-the-human-immune-system
#10
REVIEW
Alain Fischer, Antonio Rausell
Pathogen-driven evolution has shaped the complexity of the human immune system. Our genome contains at least 1854 gene products involved in immune responses. However, the redundancy and robustness of the immune system need further characterization. One way to examine this redundancy is through the study of monogenic primary immunodeficiencies (PIDs) associated with infections. Causal mutations affecting innate immunity genes are, in relative terms, close to seven times less frequent than those affecting adaptive immunity genes in PIDs...
December 23, 2016: Science Immunology
https://www.readbyqxmd.com/read/28782633/plasma-cell-deficiency-in-humans-with-heterozygous-mutations-in-sec61a1
#11
Desirée Schubert, Marie-Christine Klein, Sarah Hassdenteufel, Andrés Caballero-Oteyza, Linlin Yang, Michele Proietti, Alla Bulashevska, Janine Kemming, Johannes Kühn, Sandra Winzer, Stephan Rusch, Manfred Fliegauf, Alejandro A Schäffer, Stefan Pfeffer, Roger Geiger, Adolfo Cavalié, Hongzhi Cao, Fang Yang, Yong Li, Marta Rizzi, Hermann Eibel, Robin Kobbe, Amy L Marks, Brian P Peppers, Robert W Hostoffer, Jennifer M Puck, Richard Zimmermann, Bodo Grimbacher
BACKGROUND: Primary antibody deficiencies (PAD) are the most frequent primary immunodeficiencies in humans. The genetic causes for PADs are largely unknown. Sec61 translocon alpha 1 subunit (SEC61A1) is the major subunit of the Sec61 complex, which is the main polypeptide-conducting channel in the endoplasmic reticulum (ER) membrane. SEC61A1 is a target gene of XBP1s and strongly induced during plasma cell differentiation. OBJECTIVE: Characterization of a novel genetic defect and its pathological mechanism in eleven patients from two unrelated families with PAD...
August 3, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28780238/tcr%C3%AE-%C3%AE-and-cd19-cell-depleted-haploidentical-and-mismatched-hematopoietic-stem-cell-transplantation-in-primary-immune-deficiency
#12
Ravi M Shah, Reem Elfeky, Zohreh Nademi, Waseem Qasim, Persis Amrolia, Robert Chiesa, Kanchan Rao, Giovanna Lucchini, Juliana M F Silva, Austen Worth, Dawn Barge, David Ryan, Jane Conn, Andrew J Cant, Roderick Skinner, Intan Juliana Abd Hamid, Terence Flood, Mario Abinun, Sophie Hambleton, Andrew R Gennery, Paul Veys, Mary Slatter
BACKGROUND: Allogeneic hematopoietic stem cell transplantation (HSCT) is used as a therapeutic approach for primary immunodeficiencies (PIDs). The best outcomes have been achieved using HLA-matched donors, but when a matched donor is not available, a haploidentical or mismatched unrelated donor (mMUD) can be useful. Various strategies are used to mitigate the risk of graft versus host disease (GvHD) and rejection associated with such transplants. OBJECTIVE: We sought to evaluate the outcomes of haploidentical or mMUD HSCT after depleting GvHD causing TCRαβCD3+ cells from the graft...
August 2, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28770187/t-cell-lymphopenia-detected-by-newborn-screening-in-two-siblings-with-an-xq13-1-duplication
#13
Xavier Rios, Ivan K Chinn, Jordan S Orange, Celine I Hanson, Nicholas L Rider
Newborn screening for severe combined immunodeficiency has proven successful in identifying infants with T-cell deficiencies before they become severely ill. Additionally, the newborn screen can detect subtle early phenotypes that may become severe later in life. We present the case of siblings with features suggestive of T-cell lymphopenia identified as having low T-cell receptor excision circles counts by newborn screening. Expanded immune testing showed robust lymphocyte mitogen and antigen responses with normal vaccine responses and immunoglobulin levels for both boys over time...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28769929/autoimmune-regulator-deficiency-results-in-a-decrease-in-stat1-levels-in-human-monocytes
#14
Ofer Zimmerman, Lindsey B Rosen, Muthulekha Swamydas, Elise M N Ferre, Mukil Natarajan, Frank van de Veerdonk, Steven M Holland, Michail S Lionakis
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by biallelic autoimmune regulator (AIRE) mutations that manifests with chronic mucocutaneous candidiasis (CMC) and autoimmunity. Patients with STAT1 gain-of-function (GOF) mutations also develop CMC and autoimmunity; they exhibit increased STAT1 protein levels at baseline and STAT1 phosphorylation (pSTAT1) upon interferon (IFN)-γ stimulation relative to healthy controls. AIRE interacts functionally with a protein that directly regulates STAT1, namely protein inhibitor of activated STAT1, which inhibits STAT1 activation...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28769069/autosomal-recessive-agammaglobulinemia-due-to-defect-in-%C3%AE-heavy-chain-caused-by-a-novel-mutation-in-the-ighm-gene
#15
P Silva, A Justicia, A Regueiro, S Fariña, J M Couselo, L Loidi
Agammaglobulinemia is a primary immunodeficiency disorder characterized by profoundly low or absent serum antibodies and low or absent circulating B cells. The most common form is X-linked agammaglobulinemia (XLA) caused by mutations in BTK gene. The remaining cases, clinically similar to XLA, are autosomal recessive agammaglobulinemia (ARA). Nearly 30% of ARA cases present mutations in the μ heavy constant region gene IGHM. Here, we present a 7-month-old patient, born from non-consanguineous parents, who is affected by ARA due to defect in the μ heavy chain...
August 3, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28768245/the-af4-mll-fusion-transiently-augments-multilineage-hematopoietic-engraftment-but-is-not-sufficient-to-initiate-leukemia-in-cord-blood-cd34-cells
#16
Cristina Prieto, Rolf Marschalek, Alessa Kühn, Adelheid Bursen, Clara Bueno, Pablo Menéndez
The translocation t(4;11)(q21;q23) is the hallmark genetic abnormality associated with infant pro-B acute lymphoblastic leukemia (B-ALL) and has the highest frequency of rearrangement in Mixed-lineage leukemia (MLL) leukemias. Unlike other MLL translocations, MLL-AF4-induced proB-ALL is exceptionally difficult to model in mice/humans. Previous work has investigated the relevance of the reciprocal translocation fusion protein AF4-MLL for t(4;11) leukemia, finding that AF4-MLL is capable of inducing proB-ALL without requirement for MLL-AF4 when expressed in murine hematopoietic stem/progenitor cells (HSPCs)...
July 26, 2017: Oncotarget
https://www.readbyqxmd.com/read/28761297/pyoderma-gangrenosum-in-a-patient-with-x-linked-agammaglobulinemia
#17
Qi Tan, Fa-Liang Ren, Hua Wang
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon, ulcerating, neutrophilic dermatosis. Here we report PG in an 8-year-old patient with XLA. The patient received intravenous immunoglobulin treatment in conjunction with prednisone and topical application of 0...
August 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28755067/efficacy-and-safety-of-human-intravenous-immunoglobulin-10-panzyga%C3%A2-in-patients-with-primary-immunodeficiency-diseases-a-two-stage-multicenter-prospective-open-label-study
#18
Michael Borte, Isaac R Melamed, Grazyna Pulka, Barbara Pyringer, Alan P Knutsen, Hans D Ochs, Roger H Kobayashi, Ai Lan Kobayashi, Sudhir Gupta, Magdalena Strach, William Smits, Anna Pituch-Noworolska, James N Moy
PURPOSE: To assess the efficacy and safety of panzyga® (intravenous immunoglobulin 10%) in preventing serious bacterial infections (SBIs) in patients with primary immunodeficiency diseases (PIDs), a prospective, open-label, multicenter, phase 3 study and an open-label extension study were undertaken. METHODS: Initially, the study drug (infusion rate ≤0.08 mL/kg/min) was administered at intervals of 3 or 4 weeks for 12 months, followed by 3 months of panzyga® at infusion rates increasing from 0...
July 29, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28755025/inflammatory-bowel-disease-in-primary-immunodeficiencies
#19
REVIEW
Judith R Kelsen, Kathleen E Sullivan
PURPOSE OF REVIEW: Inflammatory bowel disease is most often a polygenic disorder with contributions from the intestinal microbiome, defects in barrier function, and dysregulated host responses to microbial stimulation. There is, however, increasing recognition of single gene defects that underlie a subset of patients with inflammatory bowel disease, particularly those with early-onset disease, and this review focuses on the primary immunodeficiencies associated with early-onset inflammatory bowel disease...
August 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28752571/haematopoietic-stem-cell-transplantation-for-primary-immunodeficiency-syndromes-a-5-year-single-centre-experience
#20
Melissa Norman, Clementine David, Brynn Wainstein, John B Ziegler, Richard Cohn, Richard Mitchell, Tracey O'Brien, Susan Russell, Toby Trahair, Annette Trickett, Katie Frith, Paul Gray
AIM: Haematopoietic stem cell transplantation (HSCT) is a central therapy in the treatment of primary immunodeficiency diseases (PIDs). Over the past 5 years, outcomes have been greatly improved due to earlier diagnosis, improved donor availability, advancements in graft manipulation and the use of less toxic preparative regimens. We present a 5-year audit of HSCT for PID at a single Australian tertiary hospital. METHODS: Retrospective case note review identified diagnosis, pre-transplant medical morbidity, transplant protocol, engraftment, adverse events, post-transplant immune reconstitution and general health...
July 28, 2017: Journal of Paediatrics and Child Health
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