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Primary immunodeficience

Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
Domenico Umberto De Rose, Silvia Giliani, Lucia Dora Notarangelo, Vassilios Lougaris, Arnalda Lanfranchi, Daniele Moratto, Baldassarre Martire, Fernando Specchia, Alberto Tommasini, Alessandro Plebani, Raffaele Badolato
Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare primary immunodeficiency due to mutations in the gene encoding for the common β-chain of the β2 integrin family (CD18). Herein, we describe clinical manifestations and long-term complications of eight LAD-1 patients. Four LAD-1 patients were treated with hematopoietic stem cell transplantation (HSCT), while the remaining four, including two with moderate LAD-1 deficiency, received continuous antibiotic prophylaxis. Untreated patients presented numerous infections and autoimmune manifestations...
March 13, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Marija Adzic, Nadezda Nedeljkovic
CD73 is a bifunctional glycosylphosphatidylinositol (GPI)-anchored membrane protein which functions as ecto-5'-nucleotidase and a membrane receptor for extracellular matrix protein (ECM). A large body of evidence demonstrates a critical involvement of altered purine metabolism and particularly, increased expression of CD73 in a number of human disorders, including cancer and immunodeficiency. Massive up-regulation of CD73 was also found in reactive astrocytes in several experimental models of human neuropathologies...
2018: Frontiers in Pharmacology
James C Barton, Jackson Clayborn Barton, Luigi F Bertoli
BACKGROUND: We sought to learn more about the utility and safety of implanted ports for monthly immunoglobulin G infusions in adults with primary immune deficiency. METHODS: We reviewed charts of adults who were referred to a single practice during the interval 2006-2016 for evaluation and management of frequent or severe upper and lower respiratory tract and other infections, subnormal total immunoglobulin G or immunoglobulin G subclasses, and suboptimal responses to polyvalent pneumococcal polysaccharide vaccinations; were diagnosed to have primary immune deficiency; and were advised to undergo immunoglobulin G therapy...
March 1, 2018: Journal of Vascular Access
David Michalovich, Sergey Nejentsev
Activated PI3 kinase delta syndrome (APDS) is a primary immunodeficiency caused by dominant mutations that increase activity of phosphoinositide-3-kinase δ (PI3Kδ). APDS can be caused by mutations in the PIK3CD gene that encodes PI3Kδ catalytic subunit p110δ (APDS1) or mutations in the PIK3R1 gene that encodes regulatory subunit p85α (APDS2). APDS research advanced rapidly after the initial discovery in 2013. More than 200 APDS patients have been identified around the world. Multiple novel APDS mutations were reported and molecular mechanisms leading to PI3Kδ activation have been elucidated...
2018: Frontiers in Immunology
Thomas Magg, Tilmann Schober, Christoph Walz, Julia Ley-Zaporozhan, Fabio Facchetti, Christoph Klein, Fabian Hauck
Epstein-Barr virus positive (EBV+ ) smooth muscle tumors (SMTs) constitute a very rare oncological entity. They usually develop in the context of secondary immunodeficiency caused by human immunodeficiency virus infection or immunosuppressive treatment after solid organ transplantation. However, in a small fraction of predominantly pediatric patients, EBV+ SMTs may occur in patients with primary immunodeficiency disorders (PIDs), such as GATA2 and CARMIL2 deficiency. In secondary immunodeficiencies and when the underlying condition can not be cured, the treatment of EBV+ SMTs is based on surgery in combination with antiretroviral and reduced or altered immunosuppressive pharmacotherapy, respectively...
2018: Frontiers in Immunology
Jan Miechowiecki, Waltraud Stainer, Gertraud Wallner, Herwig Tuppy, Walter Aichinger, Wolfgang Prammer, Andreas Kirchgatterer
INTRODUCTION:  Immunosuppressive therapy is today's standard treatment of patients with moderate to severe inflammatory bowel disease (IBD). The risk for opportunistic infections is increased due to this therapy and is a concern in the management of patient with IBD undergoing such a treatment. CASE REPORT:  In this paper, we describe a case of an acute cytomegalovirus (CMV) infection in a 35-year-old male patient with Crohn's disease being in remission while receiving azathioprine therapy...
March 2018: Zeitschrift Für Gastroenterologie
Jahnavi Aluri, Maya Gupta, Aparna Dalvi, Snehal Mhatre, Manasi Kulkarni, Gouri Hule, Mukesh Desai, Nitin Shah, Prasad Taur, Ramprasad Vedam, Manisha Madkaikar
Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of primary immunodeficiency disorder (PID) characterized by the deficiency of MHC class II molecules. This deficiency affects the cellular and humoral immune response by impairing the development of CD4+ T helper (Th) cells and Th cell-dependent antibody production by B cells. Affected children typically present with severe respiratory and gastrointestinal tract infections. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy available for treating these patients...
2018: Frontiers in Immunology
Mohapatra Liza, Dash Gaurav, Mohanty Prasenjeet, Jena Swapna, Behera Binodini
The hyper-IgE syndrome (HIES) is a rare group of primary immunodeficiency characterised by recurrent infections, eczema, and elevated serum levels of IgE. Autosomal dominant HIES is caused by mutations in transcription factor - signal transducer and activator of transcription-3. Autosomal-recessive (AR) HIES was described in 2004 due to mutation of tyrosine kinase 2 gene, and subsequently, another mutation in dedicator of cytokinesis 8 gene was discovered in 2009. Although both the forms have many common clinical features, few characteristic findings help in differentiating them...
January 2018: Indian Journal of Dermatology
Khadija Sellami, Meriem Amouri, Sana Kmiha, Emna Bahloul, Hajer Aloulou, Lamia Sfaihi, R Guirat, Madiha Mseddi, T Kamoun, Mongia Hachicha, Hamida Turki
Background: Bacillus Calmette-Guérin (BCG) vaccine is a widely used vaccine. Management of local BCG complications differs between clinicians, and the optimal approach remains unclear. Aims: We aim to describe the epidemiological, clinical and therapeutic aspects of the BCG vaccine side effects in Sfax. Patients and Methods: This was a retrospective study of all the cases of BCG vaccine adverse reactions recorded in the Dermatology and Paediatrics Departments of Hedi Chaker University Hospital of Sfax over a period of 10 years (2005-2015)...
January 2018: Indian Journal of Dermatology
Mehdi Torabizadeh, Mohammad Nabavi, Masoud Zadkarami, Mohammad Shahrooei
Hyper IgM (HIGM) syndromes are a complex of primary immunodeficiency disorders. A 4-years-old boy with recurrent fever and chills, dyspnea, sort throat for a month was admitted to emergency department. In the current case, whole exome sequencing followed by Sanger sequencing were employed in order to screen probable functional mutations. Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome...
March 7, 2018: Current Research in Translational Medicine
Mohamed Najib Mohamed Unni, Reem Elfeky, Kanchan Rao, Zohreh Nademi, Robert Chiesa, Persis Amrolia, Roderick Skinner, Olga Slater, Austen Worth, Terence Flood, Mario Abinun, Sophie Hambleton, Waseem Qasim, Hubert B Gaspar, Andrew J Cant, Andrew R Gennery, Paul Veys, Mary A Slatter
Secondary malignancy post haematopoietic stem cell transplantation (HSCT) for malignant disorders is well recognized. There are very few published reports on malignancy post HSCT for Primary Immunodeficiency (PID). We report 12 cases of 944 patients, who developed non-PTLD malignancy post-HSCT for PID.
March 7, 2018: Journal of Allergy and Clinical Immunology
Isaac R Melamed, Michael Borte, Laurenz Trawnicek, Ai-Lan Kobayashi, Roger H Kobayashi, Alan Knutsen, Sudhir Gupta, William Smits, Anna Pituch-Noworolska, Magdalena Strach, Grazyna Pulka, Hans D Ochs, James N Moy
Intravenous immunoglobulin (IVIG) therapy is commonly used to treat patients with primary antibody deficiency. This prospective, open-label, non-randomised, multicentre, phase III trial investigated the pharmacokinetics of a new 10% liquid IVIG product (panzyga®; Octapharma) in 51 patients aged 2-75 years with common variable immunodeficiency (n = 43) or X-linked agammaglobulinaemia (n = 8). Patients were treated with IVIG 10% every 3 (n = 21) or 4 weeks (n = 30) at a dose of 200-800 mg/kg for 12 months...
March 6, 2018: European Journal of Pharmaceutical Sciences
Mariska C Vlot, Marlous L Grijsen, Jan M Prins, Renate T de Jongh, Robert de Jonge, Martin den Heijer, Annemieke C Heijboer
INTRODUCTION: Previous studies indicate that human immunodeficiency virus (HIV)-infection and combination antiretroviral therapy (cART) can affect bone turnover. Furthermore, HIV-infected patients have lower bone mineral density (BMD) compared to a healthy reference population. OBJECTIVE: To evaluate the longitudinal effect of HIV-infection and cART on bone turnover markers (BTMs) and BMD in men with primary HIV-infection (PHI). DESIGN, METHODS: Thirty-five PHI-men were divided into two groups, those that received cART for the first time (n = 26) versus no-cART (n = 9)...
2018: PloS One
J Yang, X D Zhao
No abstract text is available yet for this article.
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Raquel Gago-Fuentes, Mengtan Xing, Siri Sæterstad, Antonio Sarno, Alisa Dewan, Carole Beck, Stefano Bradamante, Magnar Bjørås, Valentyn Oksenych
DNA repair consists of several cellular pathways which recognize and repair damaged DNA. The classical nonhomologous DNA end-joining (NHEJ) pathway repairs double-strand breaks in DNA. It is required for maturation of both B and T lymphocytes by supporting V(D)J recombination as well as B-cell differentiation during class switch recombination (CSR). Inactivation of NHEJ factors Ku70, Ku80, XRCC4, DNA ligase 4, DNA-PKcs, and Artemis impairs V(D)J recombination and blocks lymphocyte development. Paralogue of XRCC4 and XLF (PAXX) is an accessory NHEJ factor that has a significant impact on the repair of DNA lesions induced by ionizing radiation in human, murine, and chicken cells...
March 2018: FEBS Open Bio
Carsten Schade Larsen, Terese L Katzenstein
Primary antibody deficiency syndromes (PAD) are a group of primary immunodeficiencies (PID) characterized by reduced production of immunoglobulins and recurrent respiratory tract infections. PAD varies from rare but life-threatening agammaglobulinaemias to frequent but often asymptomatic conditions such as selective immunoglobulin(Ig)A deficiency or IgG subclass deficiency. Common variable immunodeficiency is the clinically most important PAD. Hypogammaglobulinaemia may be associated with other PID or may be drug-induced or caused by infectious diseases, haematological malignancies or protein loss...
February 26, 2018: Ugeskrift for Laeger
Carsten Schade Larsen, Terese L Katzenstein
Primary antibody deficiencies (PAD) make up more than half of primary immunodeficiencies. PAD is characterized by low levels of one or more immunoglobulin (Ig) classes or impaired vaccine response. Recurrent infections are the predominant presenting symptoms, but autoimmune disorders are also frequent. Onset of symptoms is often after the age of six. Screening for PAD with measurement of the levels of serum IgG, IgM, and IgA is simple and can be done in general practice. Replacement therapy with Ig is the cornerstone in treatment of PAD and reduces the frequency of infections and mortality...
February 26, 2018: Ugeskrift for Laeger
Gesmar R S Segundo, Anh T V Nguyen, Huyen T Thuc, Le N Q Nguyen, Roger H Kobayashi, Hai T Le, Huong T M Le, Troy R Torgerson, Hans D Ochs
Background: New sequencing techniques have revolutionized the identification of the molecular basis of primary immunodeficiency disorders (PID) not only by establishing a gene-based diagnosis but also by facilitating defect-specific treatment strategies, improving quality of life and survival, and allowing factual genetic counseling. Because these techniques are generally not available for physicians and their patients residing in developing countries, collaboration with overseas laboratories has been explored as a possible, albeit cumbersome, strategy...
2018: Frontiers in Immunology
Ana Esteve-Solé, Ithaisa Sologuren, María Teresa Martínez-Saavedra, Àngela Deyà-Martínez, Carmen Oleaga-Quintas, Rubén Martinez-Barricarte, Andrea Martin-Nalda, Manel Juan, Jean-Laurent Casanova, Carlos Rodriguez-Gallego, Laia Alsina, Jacinta Bustamante
The integrity of the interferon (IFN)-γ circuit is necessary to mount an effective immune response to intra-macrophagic pathogens, especially Mycobacteria. Inherited monogenic defects in this circuit that disrupt the production of, or response to, IFN-γ underlie a primary immunodeficiency known as Mendelian susceptibility to mycobacterial disease (MSMD). Otherwise healthy patients display a selective susceptibility to clinical disease caused by poorly virulent mycobacteria such as BCG (bacille Calmette-Guérin) vaccines and environmental mycobacteria, and more rarely by other intra-macrophagic pathogens, particularly Salmonella and M...
March 4, 2018: Critical Reviews in Clinical Laboratory Sciences
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