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severe combined immune deficiency

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https://www.readbyqxmd.com/read/28861848/update-of-hiv-associated-sensory-neuropathies
#1
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
#2
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)...
August 25, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28842263/screening-of-an-fda-approved-compound-library-identifies-levosimendan-as-a-novel-anti-hiv-1-agent-that-inhibits-viral-transcription
#3
Tsuyoshi Hayashi, Maxime Jean, Huachao Huang, Sydney Simpson, Netty G Santoso, Jian Zhu
Combination antiretroviral therapy (cART) has been proven to efficiently inhibit ongoing replication of human immunodeficiency virus type 1 (HIV-1), and significantly improve the health outcome in patients of acquired immune deficiency syndrome (AIDS). However, cART is unable to cure HIV-1/AIDS. Even in presence of cART there exists a residual viremia, contributed from the viral reservoirs of latently infected HIV-1 proviruses; this constitutes a major hurdle. Currently, there are multiple strategies aimed at eliminating or permanently silence these HIV-1 latent reservoirs being intensely explored...
August 24, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28842185/early-diagnosis-of-pi3k%C3%AE-syndrome-in-a-2-years-old-girl-with-recurrent-otitis-and-enlarged-spleen
#4
F Saettini, M A Pelagatti, D Sala, D Moratto, S Giliani, R Badolato, A Biondi
Heterozygous gain of function mutations in the gene encoding p110δ subunit of PI3K have been recently associated with activated PI3K-δ syndrome (APDS), a novel combined immune deficiency characterized by recurrent sinopulmonary infections, lymphopenia, reduced class-switched memory B cells, lymphadenopathy, CMV and/or EBV viremia and EBV-related lymphoma. Here we report a dominant gain of function PIK3CD mutation (E1021K) in a patient presenting with recurrent otitis media, massive splenomegaly, and persistent EBV-viraemia...
August 31, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28836991/modeling-dna%C3%A2-damage-induced-pneumopathy-in-mice-insight-from-danger-signaling-cascades
#5
REVIEW
Florian Wirsdörfer, Verena Jendrossek
Radiation-induced pneumonitis and fibrosis represent severe and dose-limiting side effects in the radiotherapy of thorax-associated neoplasms leading to decreased quality of life or - as a consequence of treatment with suboptimal radiation doses - to fatal outcomes by local recurrence or metastatic disease. It is assumed that the initial radiation-induced damage to the resident cells triggers a multifaceted damage-signalling cascade in irradiated normal tissues including a multifactorial secretory program. The resulting pro-inflammatory and pro-angiogenic microenvironment triggers a cascade of events that can lead within weeks to a pronounced lung inflammation (pneumonitis) or after months to excessive deposition of extracellular matrix molecules and tissue scarring (pulmonary fibrosis)...
August 24, 2017: Radiation Oncology
https://www.readbyqxmd.com/read/28812413/unusual-retinopathy-in-a-child-with-severe-combined-immune-deficiency
#6
Christina Gerth-Kahlert, Amit Tiwari, Mathias M Hauri-Hohl, James V M Hanson, Angela Bahr, Anja Palmowski-Wolfe, Tayfun Güngör, Wolfgang Berger
We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of congenital retinitis pigmentosa/ Leber's congenital amaurosis could be excluded by whole exome sequencing.
August 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28811575/biological-and-functional-characterization-of-bone-marrow-derived-mesenchymal-stromal-cells-from-patients-affected-by-primary-immunodeficiency
#7
Nadia Starc, Daniela Ingo, Antonella Conforti, Valeria Rossella, Luigi Tomao, Angela Pitisci, Fabiola De Mattia, Immacolata Brigida, Mattia Algeri, Mauro Montanari, Giuseppe Palumbo, Pietro Merli, Paolo Rossi, Alessandro Aiuti, Franco Locatelli, Maria Ester Bernardo
Mesenchymal stromal cells (MSCs) represent a key component of bone marrow (BM) microenvironment and display immune-regulatory properties. We performed a detailed analysis of biological/functional properties of BM-MSCs derived from 33 pediatric patients affected by primary immune-deficiencies (PID-MSCs): 7 Chronic Granulomatous Disease (CGD), 15 Wiskott-Aldrich Syndrome (WAS), 11 Severe Combined Immunodeficiency (SCID). Results were compared with MSCs from 15 age-matched pediatric healthy-donors (HD-MSCs). Clonogenic and proliferative capacity, differentiation ability, immunophenotype, immunomodulatory properties were analyzed...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811340/type-iii-interferon-mediated-signaling-is-critical-for-controlling-live-attenuated-yellow-fever-virus-infection-in-vivo
#8
Florian Douam, Yentli E Soto Albrecht, Gabriela Hrebikova, Evita Sadimin, Christian Davidson, Sergei V Kotenko, Alexander Ploss
Yellow fever virus (YFV) is an arthropod-borne flavivirus, infecting ~200,000 people worldwide annually and causing about 30,000 deaths. The live attenuated vaccine strain, YFV-17D, has significantly contributed in controlling the global burden of yellow fever worldwide. However, the viral and host contributions to YFV-17D attenuation remain elusive. Type I interferon (IFN-α/β) signaling and type II interferon (IFN-γ) signaling have been shown to be mutually supportive in controlling YFV-17D infection despite distinct mechanisms of action in viral infection...
August 15, 2017: MBio
https://www.readbyqxmd.com/read/28770187/t-cell-lymphopenia-detected-by-newborn-screening-in-two-siblings-with-an-xq13-1-duplication
#9
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/28748310/long-term-outcome-of-adenosine-deaminase-deficient-patients-a-single-center-experience
#10
Ori Scott, Vy Hong-Diep Kim, Brenda Reid, Anne Pham-Huy, Adelle R Atkinson, Alessandro Aiuti, Eyal Grunebaum
PURPOSE: Inherited defects in the adenosine deaminase (ADA) enzyme can cause severe combined immune deficiency (SCID) and systemic abnormalities. Management options for ADA-deficient patients include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy (GT). Here, we describe the long-term benefits of these treatments. METHODS: Survival, infections, systemic sequelae, and laboratory assessments were recorded for all ADA-deficient SCID patients, managed at a single center since 1985, who survived 5 or more years following treatment...
July 26, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28747344/the-small-rho-gtpase-tc10-modulates-b-cell-immune-responses
#11
Marianne Burbage, Selina J Keppler, Beatriz Montaner, Pieta K Mattila, Facundo D Batista
Rho family GTPases regulate diverse cellular events, such as cell motility, polarity, and vesicle traffic. Although a wealth of data exists on the canonical Rho GTPases RhoA, Rac1, and Cdc42, several other family members remain poorly studied. In B cells, we recently demonstrated a critical role for Cdc42 in plasma cell differentiation. In this study, we focus on a close homolog of Cdc42, TC10 (also known as RhoQ), and investigate its physiological role in B cells. By generating a TC10-deficient mouse model, we show that despite reduced total B cell numbers, B cell development in these mice occurs normally through distinct developmental stages...
September 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28694805/primary-immunodeficiency-diseases-in-highly-consanguineous-populations-from-middle-east-and-north-africa-epidemiology-diagnosis-and-care
#12
REVIEW
Hamoud Al-Mousa, Bandar Al-Saud
Middle East and North Africa region (MENA) populations are of different ethnic origins. Consanguineous marriages are common practice with an overall incidence ranging between 20 and 50%. Primary immunodeficiency diseases (PIDs) are a group of heterogeneous genetic disorders caused by defects in the immune system that predisposes patients to recurrent infections, autoimmune diseases, and malignancies. PIDs are more common in areas with high rates of consanguineous marriage since most have an autosomal recessive mode of inheritance...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28694137/idiopathic-t-cell-lymphopenia-identified-in-new-york-state-newborn-screening
#13
Stephanie Albin-Leeds, Juliana Ochoa, Harshna Mehta, Beth H Vogel, Michele Caggana, Vincent Bonagura, Heather Lehman, Mark Ballow, Arye Rubinstein, Subhadra Siegel, Leonard Weiner, Geoffrey A Weinberg, Charlotte Cunningham-Rundles
Quantification of T-cell receptor excision circles (TRECs) for newborn screening for SCID has advanced the diagnosis of severe combined immune deficiency (SCID). However, it has led to the identification of infants with T cell lymphopenia without known cause. The clinical characteristics, appropriate laboratory monitoring, and outcomes of patients remain unclear. We performed a retrospective review of clinical and laboratory studies for 26 infants collected from 7 New York State referral centers from 2010 to 2016 with low TRECs (mean, 70copies/μl) and subnormal CD3 counts (mean, 1150/cubicmm)...
July 8, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28684198/flow-cytometry-based-diagnosis-of-primary-immunodeficiency-diseases
#14
REVIEW
Hirokazu Kanegane, Akihiro Hoshino, Tsubasa Okano, Takahiro Yasumi, Taizo Wada, Hidetoshi Takada, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Ryuta Nishikomori, Masatoshi Takagi, Kohsuke Imai, Hans D Ochs, Tomohiro Morio
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Flow cytometry can evaluate specific cell populations and subpopulations, cell surface, intracellular and intranuclear proteins, biologic effects associated with specific immune defects, and certain functional immune characteristics, each being useful for the diagnosis and evaluation of PIDs...
July 3, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28674683/infusion-of-sibling-marrow-in-a-patient-with-purine-nucleoside-phosphorylase-deficiency-leads-to-split-mixed-donor-chimerism-and-normal-immunity
#15
Laura Yeates, Mary A Slatter, Andrew R Gennery
Purine nucleoside phosphorylase (PNP) deficiency, a rare autosomal recessive metabolic disease causes combined immunodeficiency and developmental delay, hypotonia, and spasticity. Patients present with recurrent infections associated with T-lymphocytopenia, characteristically presenting later than patients with classical severe combined immunodeficiency (SCID). PNP, with adenosine deaminase (ADA), is part of the purine salvage pathway. The only curative therapy is hematopoietic stem cell transplantation. Myeloablative conditioning is recommended to prevent rejection caused by residual immune function...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28674043/beneficial-effects-of-systemically-administered-human-muse-cells-in-adriamycin-nephropathy
#16
Nao Uchida, Yoshihiro Kushida, Masaaki Kitada, Shohei Wakao, Naonori Kumagai, Yasumasa Kuroda, Yoshiaki Kondo, Yukari Hirohara, Shigeo Kure, Gregorio Chazenbalk, Mari Dezawa
Multilineage-differentiating stress-enduring (Muse) cells are nontumorigenic endogenous pluripotent-like stem cells that can be collected from various organs. Intravenously administered Muse cells have been shown to spontaneously migrate to damaged tissue and replenish lost cells, but the effect in FSGS is unknown. We systemically administered human bone marrow-derived Muse cells without concurrent administration of immunosuppressants to severe combined immune-deficient (SCID) and BALB/c mouse models with adriamycin-induced FSGS (FSGS-SCID and FSGS-BALB/c, respectively)...
July 3, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28664550/hematopoietic-stem-cell-transplantation-from-unrelated-donors-in-children-with-dock8-deficiency
#17
Dilara Fatma K Uygun, Vedat Uygun, İsmail Reisli, Sevgi Keleş, Ahmet Özen, Mustafa Yılmaz, Esra H Sayar, Hayriye Daloğlu, Seda I Öztürkmen, Suar Çakı, Gülsün T Karasu, Akif Yeşilipek
DIDS is a unique form of combined immune deficiency characterized by an unusual susceptibility to cutaneous viral infections, severe allergies with eosinophilia and elevated immunoglobulin E titers, autoimmunity, and cancer. HSCT is considered the standard of care for this deadly disease. We have retrospectively analyzed the outcome of allogeneic HSCT from unrelated donors in patients with DIDS. Data from four patients, with five transplants, are presented. All patients received transplants from unrelated donors' BM, except for one patient who received a cord blood transplant...
June 30, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28663101/improving-gene-therapy-efficiency-through-the-enrichment-of-human-hematopoietic-stem-cells
#18
Katelyn E Masiuk, Devin Brown, Jennifer Laborada, Roger P Hollis, Fabrizia Urbinati, Donald B Kohn
Lentiviral vector (LV)-based hematopoietic stem cell (HSC) gene therapy is becoming a promising clinical strategy for the treatment of genetic blood diseases. However, the current approach of modifying 1 × 10(8) to 1 × 10(9) CD34(+) cells per patient requires large amounts of LV, which is expensive and technically challenging to produce at clinical scale. Modification of bulk CD34(+) cells uses LV inefficiently, because the majority of CD34(+) cells are short-term progenitors with a limited post-transplant lifespan...
September 6, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28655551/adult-venous-endothelium-is-a-niche-for-highly-proliferative-and-vasculogenic-endothelial-colony-forming-cells
#19
Linden Green, Richard H Ofstein, Brian Rapp, M Reza Saadatzadeh, Janak R Bhavsar, Andres Fajardo, Michael C Dalsing, David A Ingram, Michael P Murphy
OBJECTIVE: Postnatal resident endothelium of blood vessels has been proposed to represent terminally differentiated tissue that does not replicate. We previously isolated endothelial colony-forming cells (ECFCs) from human umbilical cord blood (CB) and term placenta by using colony-forming assays and immunocytochemistry. We showed that ECFCs are highly proliferative and form functioning vessels in vivo, the defining characteristics of a true endothelial progenitor cell. This exploratory investigation was conducted to determine whether the endothelium of healthy adult blood vessels contained resident ECFCs...
June 24, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28639520/polyomavirus-associated-prostatitis-in-wistar-han-rats-following-immunosuppression-in-a-chronic-toxicity-study
#20
Katherine Masek-Hammerman, Thomas P Brown, Walter F Bobrowski, Lindsay Tomlinson, Marie Debrue, Laurence Whiteley, Zaher Radi
Chronic prostatitis characterized on light microscopic examination by moderate, multifocal, predominantly lymphocytic inflammation associated with epithelial atypia and intranuclear and cytoplasmic inclusion-like material was identified in the prostate gland of 2 Wistar Han rats administered an immunomodulatory test article in a 6-month chronic toxicity study. Transmission electron microscopy of the prostate glands identified 45-nm, nonenveloped, icosahedral virions arranged in paracrystalline array within the cell nuclei in 1 of the 2 rats...
January 1, 2017: Toxicologic Pathology
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