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Combined immunodeficiency

Allison A Lindgren, Adam R Filipowicz, Julian B Hattler, Soon Ok Kim, Hye Kyung Chung, Marcelo J Kuroda, Edward M Johnson, Woong-Ki Kim
OBJECTIVE: HIV-1 infection of the brain and related cognitive impairment remain prevalent in HIV-1-infected subjects despite combination antiretroviral therapy. Sterile alpha motif and histidine-aspartate domain-containing protein 1 (SAMHD1) is a newly identified host restriction factor that blocks the replication of HIV-1 and other retroviruses in myeloid cells. Cell-cycle-regulated phosphorylation at residue Thr592 and viral protein X (Vpx)-mediated degradation of SAMHD1 have been shown to bypass SAMHD1 restriction in vitro...
March 15, 2018: AIDS
Seung Yub Han, Alesia Antoine, David Howard, Bryant Chang, Woo Sung Chang, Matthew Slein, Gintaras Deikus, Sofia Kossida, Patrice Duroux, Marie-Paule Lefranc, Robert P Sebra, Melissa L Smith, Ismael Ben F Fofana
The simian immunodeficiency virus (SIV)/macaque model of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome pathogenesis is critical for furthering our understanding of the role of antibody responses in the prevention of HIV infection, and will only increase in importance as macaque immunoglobulin (IG) gene databases are expanded. We have previously reported the construction of a phage display library from a SIV-infected rhesus macaque ( Macaca mulatta ) using oligonucleotide primers based on human IG gene sequences...
2018: Frontiers in Immunology
Síle F Molloy, Cecilia Kanyama, Robert S Heyderman, Angela Loyse, Charles Kouanfack, Duncan Chanda, Sayoki Mfinanga, Elvis Temfack, Shabir Lakhi, Sokoine Lesikari, Adrienne K Chan, Neil Stone, Newton Kalata, Natasha Karunaharan, Kate Gaskell, Mary Peirse, Jayne Ellis, Chimwemwe Chawinga, Sandrine Lontsi, Jean-Gilbert Ndong, Philip Bright, Duncan Lupiya, Tao Chen, John Bradley, Jack Adams, Charles van der Horst, Joep J van Oosterhout, Victor Sini, Yacouba N Mapoure, Peter Mwaba, Tihana Bicanic, David G Lalloo, Duolao Wang, Mina C Hosseinipour, Olivier Lortholary, Shabbar Jaffar, Thomas S Harrison
BACKGROUND: Cryptococcal meningitis accounts for more than 100,000 human immunodeficiency virus (HIV)-related deaths per year. We tested two treatment strategies that could be more sustainable in Africa than the standard of 2 weeks of amphotericin B plus flucytosine and more effective than the widely used fluconazole monotherapy. METHODS: We randomly assigned HIV-infected adults with cryptococcal meningitis to receive an oral regimen (fluconazole [1200 mg per day] plus flucytosine [100 mg per kilogram of body weight per day] for 2 weeks), 1 week of amphotericin B (1 mg per kilogram per day), or 2 weeks of amphotericin B (1 mg per kilogram per day)...
March 15, 2018: New England Journal of Medicine
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
Angela Deyà-Martínez, Ana Esteve-Solé, Natalia Vélez-Tirado, Veronica Celis, Jordi Costa, Maria Cols, Cristina Jou, Alexandru Vlagea, Ana María Plaza-Martin, Manel Juan, Laia Alsina
BACKGROUND: One of the most frequent non-infectious complications of humoral immunodeficiencies with a CVID-like pattern is a particular form of inflammatory lung disease which is called granulomatous-lymphocytic interstitial lung disease (GLILD). Its development worsens patient prognosis, with a significant decrease in survival. Currently there are no unified guidelines regarding its management, and different combinations of immunosuppressants have been used with variable success. METHODS: Clinical and radiological data were collected from patient's medical charts...
March 12, 2018: Pediatric Allergy and Immunology
Faris Shweikeh, Stephanie Zyck, Fadi Sweiss, Ajleeta Sangtani, Mohammed Shweikeh, Husam Issa, Michael P Steinmetz, Georges Z Markarian
Study design: In this review, we present a case of Aspergillus spinal epidural abscess (ASEA) and review the literature. Objectives: To provide further insight on a rare condition. Setting: A description of a patient with ASEA in a 58-year-old woman that was successfully treated with conservative management is presented. Methods: Following case presentation, a literature search (MedLine and PubMed) and assessment of epidemiology, presentation, diagnosis, treatments, and outcomes is performed...
2018: Spinal Cord Series and Cases
Daniel Enosi Tuipulotu, Natalie E Netzler, Jennifer H Lun, Jason M Mackenzie, Peter A White
Norovirus infections are a significant health and economic burden globally, accounting for hundreds of millions of cases of acute gastroenteritis every year. In the absence of an approved norovirus vaccine, there is an urgent need to develop antivirals to treat chronic infections, and provide prophylactic therapy to limit viral spread during epidemics and pandemics. Toll-like receptor (TLR) agonists have been explored widely for their antiviral potential and several are progressing through clinical trials for the treatment of human immunodeficiency virus (HIV), hepatitis B virus (HBV) and as adjuvants for norovirus virus-like particle (VLP) vaccines...
March 12, 2018: Antimicrobial Agents and Chemotherapy
Mio Nakamura, Michael Abrouk, Benjamin Farahnik, Tian H Zhu, Tina Bhutani
The management of psoriatic disease in the human immunodeficiency virus (HIV)-positive population is challenging. The clinical course often is progressive and refractory; therefore, first- and second-line therapies including topical agents, phototherapy, and oral retinoids often are inadequate. Most other currently available systemic therapies for psoriatic disease are immunosuppressive, which poses a distinct clinical challenge. A comprehensive systematic review of the literature via a PubMed search of articles indexed for MEDLINE using the terms psoriasis and HIV and psoriatic arthritis and HIV combined with several systemic immunosuppressive agents yielded a total of 25 reported cases of systemic immunosuppressive therapies used to treat psoriatic disease in HIV-positive patients including methotrexate, cyclosporine, etanercept, adalimumab, infliximab, and ustekinumab...
January 2018: Cutis; Cutaneous Medicine for the Practitioner
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
Feng Zhu, Yinling Hu
A pathogenic connection between autoreactive T cells, fungal infection, and carcinogenesis has been demonstrated in studies of human autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) as well as in a mouse model in which kinase-dead Ikkα knock-in mice develop impaired central tolerance, autoreactive T cell-mediated autoimmunity, chronic fungal infection, and esophageal squamous cell carcinoma, which recapitulates APECED. IκB kinase α (IKKα) is one subunit of the IKK complex required for NF-κB activation...
March 9, 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
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
Jeffy George, Joseph J Mattapallil
Human immunodeficiency virus (HIV) establishes life-long latency in infected individuals. Although highly active antiretroviral therapy (HAART) has had a significant impact on the course of HIV infection leading to a better long-term outcome, the pool of latent reservoir remains substantial even under HAART. Numerous approaches have been under development with the goal of eradicating the latent HIV reservoir though with limited success. Approaches that combine immune-mediated control of HIV to activate both the innate and the adaptive immune system under suppressive therapy along with "shock and kill" drugs may lead to a better control of the reactivated virus...
2018: Frontiers in Immunology
Luca Trentin, Manon Queudeville, Sarah Mirjam Eckhoff, Md Nabiul Hasan, Vera Münch, Elena Boldrin, Felix Seyfried, Stefanie Enzenmüller, Klaus-Michael Debatin, Lüder Hinrich Meyer
In contrast to well-established hierarchical concepts of tumor stem cells, leukemia-initiating cells in B-cell precursor acute lymphoblastic leukemia have not yet been phenotypically identified. Different subpopulations as defined by surface markers have shown equal abilities to reconstitute leukemia upon transplantation onto immunodeficient mice. Using a non-obese diabetes/severe combined immunodeficiency human acute lymphoblastic leukemia mouse model and cell cycle analysis annotating cells to distinct cycle phases, we have functionally characterized leukemia-initiating cells and found that cells in all cell cycle stages are able to reconstitute leukemia in vivo, with early cycling cells (G1blow population) exhibiting the highest leukemia-initiating potential...
March 8, 2018: Haematologica
G Yu, W J Wang, D R Liu, Z F Tao, X Y Hui, J Hou, J Q Sun, X C Wang
Objective: To investigate the clinical characteristics of 8 immunodeficiency cases caused by human recombination activating gene 1 (RAG1) mutations, and to explore the relationship among genotypes, clinical manifestations and immunophenotypes. Methods: Clinical data were collected and analyzed from patients with RAG1 mutations who visited the Department of Clinical Immunology, Children's Hospital of Fudan University between October 2013 and June 2017. The data included clinical manifestations, immunophenotypes and genotypes...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Marzieh Tavakol, Seyed Alireza Mahdaviani, Mir Reza Ghaemi, Mohammad Vaezi, Atosa Dorudinia, Hamidreza Jamaati, Ali Akbar Velayati
Good's syndrome, the adult onset hypogammaglobulinemia associated with thymoma has been explained about six decades ago. It generally presents with recurrent infections and several paraneoplastic syndromes including myasthenia gravis, pure red cell aplasia, connective tissue disorders, superior vena cava, Horner's syndrome, lichen planus and inflammatory bowel disease. Lack of B cell, dysfunction of T cell, CD4+ T cell lymphopenia, reversed CD4/CD8+ T cell ratio, autoantibodies against Th17 related cytokines have been respected as the pathogenesis of the immune dysregulation this syndrome...
February 2018: Iranian Journal of Allergy, Asthma, and Immunology
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
Yayun Chen, Fan Meng, Bingyu Wang, Liangmei He, Yangbin Liu, Zhiping Liu
An atypical guanine exchange factor, Dock2 is specifically expressed in hematopoietic cells and regulates activation and migration of immune cells through activating Ras-related C3 botulinum toxin substrate (Rac). Dock2 was shown to be critical in the development of various inflammatory diseases, including allergic diseases, HIV infection, and graft rejection in organ transplantation. DOCK2 mutation in infants was recently identified to be associated with T and B cell combined immunodeficiency. Furthermore, Dock2 is involved in host protection during enteric bacterial infection and is also associated with the proliferation of cancer cells...
March 6, 2018: European Journal of Immunology
Takahiro Kamiya, Desmond Wong, Yi Tian Png, Dario Campana
Practical methods are needed to increase the applicability and efficacy of chimeric antigen receptor (CAR) T-cell therapies. Using donor-derived CAR-T cells is attractive, but expression of endogenous T-cell receptors (TCRs) carries the risk for graft-versus-host-disease (GVHD). To remove surface TCRαβ, we combined an antibody-derived single-chain variable fragment specific for CD3ε with 21 different amino acid sequences predicted to retain it intracellularly. After transduction in T cells, several of these protein expression blockers (PEBLs) colocalized intracellularly with CD3ε, blocking surface CD3 and TCRαβ expression...
March 13, 2018: Blood Advances
S Tahseen, H Shahnawaz, U Riaz, F M Khanzada, A Hussain, W Aslam, M von Euler-Chelpin
SETTING: Pakistan is a high tuberculosis (TB) burden country, moving from low human immunodeficiency virus (HIV) prevalence to a concentrated epidemic driven primarily by people who inject drugs (PWID). The Antiretroviral Treatment Adherence Unit (AAU) in Islamabad, Pakistan, is a residential facility that offers combined treatment for opioid dependence and HIV. OBJECTIVE AND DESIGN: This retrospective study was conducted to assess TB prevalence among HIV-infected PWID referred to the AAU and to evaluate the diagnostic value of cough as a screening symptom...
February 1, 2018: International Journal of Tuberculosis and Lung Disease
Brenna S Fullerton, Cristine S Velazco, Charles R Hong, Alexandra N Carey, Tom Jaksic
PURPOSE: Severe combined immunodeficiency (SCID) screening by T-cell receptor excision circles (TREC) has been part of Massachusetts routine newborn screening since 2009. Tetratricopeptide repeat domain 7A gene (TTC7A) mutations responsible for hereditary multiple intestinal atresia with combined immunodeficiency (MIA-CID) were also recently identified. We reviewed newborn SCID screening among infants with intestinal failure and correlated results with patient characteristics and outcomes...
January 2018: JPEN. Journal of Parenteral and Enteral Nutrition
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