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Severe combined immunodeficiency

Sofia Morfopoulou, Edward T Mee, Sarah M Connaughton, Julianne R Brown, Kimberly Gilmour, W K 'Kling' Chong, W Paul Duprex, Deborah Ferguson, Mike Hubank, Ciaran Hutchinson, Marios Kaliakatsos, Stephen McQuaid, Simon Paine, Vincent Plagnol, Christopher Ruis, Alex Virasami, Hong Zhan, Thomas S Jacques, Silke Schepelmann, Waseem Qasim, Judith Breuer
Routine childhood vaccination against measles, mumps and rubella has virtually abolished virus-related morbidity and mortality. Notwithstanding this, we describe here devastating neurological complications associated with the detection of live-attenuated mumps virus Jeryl Lynn (MuV(JL5)) in the brain of a child who had undergone successful allogeneic transplantation for severe combined immunodeficiency (SCID). This is the first confirmed report of MuV(JL5) associated with chronic encephalitis and highlights the need to exclude immunodeficient individuals from immunisation with live-attenuated vaccines...
October 21, 2016: Acta Neuropathologica
Bin Shen, Yu Zhang, Wei Dai, Yupo Ma, Yongping Jiang
BACKGROUND: Hematopoietic CD34(+) stem cells are widely used in the clinical therapy of complicated blood diseases. Stem cell factor Sall4B is a zinc finger transcription factor that plays a vital role in hematopoietic stem cell expansion. The purpose of our current study is to further evaluate how Sall4B might affect the expansion of CD34(+) cells derived from nonhuman primates. METHODS: Sall4B was overexpressed in nonhuman primate bone marrow-derived CD34(+) cells via a lentiviral transduction system...
October 20, 2016: Stem Cell Research & Therapy
Marina Cavazzana, Jean-Antoine Ribeil, Chantal Lagresle-Peyrou, Isabelle André-Schmutz
When considering inherited diseases that can be treated by gene transfer into Hematopoietic stem cells (HSCs), there are only two in which the HSC and progenitor cell distribution inside the bone marrow and its microenvironment are exactly the same as in a healthy subject: metachromatic leukodystrophy (MLD) and ALD. In all other settings (X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency, Wiskott-Aldrich syndrome and β-hemoglobinopathies), the bone marrow content of the different stem and precursor cells and the cells' relationship with the stroma have very specific characteristics...
October 17, 2016: Stem Cells and Development
Cristina Emilia Chițu-Tișu, Ecaterina Constanța Barbu, Mihai Lazăr, Mihai Bojincă, Ana-Maria Tudor, Adriana Hristea, Adrian Octavian Abagiu, Daniela Adriana Ion, Anca Ioana Bădărău
BACKGROUND: The development of combination antiretroviral therapies (cART) represents a significant advance in the treatment of (human immunodeficiency virus) HIV infection. However, several studies report that a large percentage of individuals with HIV, particularly those receiving cART, present body composition differences compared with the general population. The aim of this study was to explore body composition differences by dual-energy X-ray absorptiometry (DEXA), among HIV-positive patients receiving cART, in comparison to healthy controls...
October 11, 2016: Acta Clinica Belgica
Pranjali Dalvi, Himanshu Sharma, Mahendran Chinnappan, Miles Sanderson, Julie Allen, Ruoxi Zeng, Augustine Choi, Amy O'Brien-Ladner, Navneet K Dhillon
Intravenous drug use is one of the major risk factors for HIV-infection in HIV-related pulmonary arterial hypertension patients. We previously demonstrated exaggerated pulmonary vascular remodeling with enhanced apoptosis followed by increased proliferation of pulmonary endothelial cells on simultaneous exposure to both opioids and HIV protein(s). Here we hypothesize that the exacerbation of autophagy may be involved in the switching of endothelial cells from an early apoptotic state to later hyper-proliferative state...
October 10, 2016: Autophagy
O S Michael, O M Sogaolu, F A Fehintola, O M Ige, C O Falade
BACKGROUND: The combination and use of multiple drugs in the treatment of tuberculosis (TB) predispose to adverse drug events and reactions. This study evaluated the incidence, frequency, and severity of adverse events to first line anti-tuberculosis (anti-TB) drugs in patients with TB and co-infections with Human Immunodeficiency Virus (HIV). OBJECTIVE: The objective of this study was to determine the effects of HIV status on the risk of developing adverse events to first line anti-TB therapy...
June 2016: Annals of Ibadan Postgraduate Medicine
J J Wen, Z B Liu, C G Xu
Objective: To determine the anti-tumor effects of 13-cis-retinoic acid (13cRA) combined with interferonα-2b (IFNα-2b) in mantle cell lymphoma (MCL) animal model. Methods: The animal model of MCL was established by introducing Jeko-1 cell line into severe combined immunodeficiency disease mice. The successfully tumor-developed mice were assigned to different groups treated with negative control group (solvents), 13cRA (high dose: 200mg/kg; middle dose: 100mg/kg; low dose: 50 mg/kg) alone, IFNα-2b alone or combination of different dose of 13cRA with IFNα-2b, and positive control group (bortezomib, rituximab, cyclophosphamide), respectively...
September 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Thomas Altmann, Andrew R Gennery
DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair DNA double stranded breaks. Ubiquitously expressed, it is required to prevent mutagenesis and apoptosis, which can result from DNA double strand breakage caused by intracellular events such as DNA replication and meiosis or extracellular events including damage by reactive oxygen species and ionising radiation...
October 7, 2016: Orphanet Journal of Rare Diseases
Kesava A Ramakrishnan, Reuben J Pengelly, Yifang Gao, Mary Morgan, Sanjay V Patel, E Graham Davies, Sarah Ennis, Saul N Faust, Anthony P Williams
BACKGROUND: Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. OBJECTIVE: To describe our investigative approach to the molecular diagnosis and evaluation of immune dysfunction in a family with MTHFD1 deficiency. METHODS: The methods used were exome sequencing and analysis of variants in genes involved in the folate metabolic pathway in a family with 2 affected siblings...
October 1, 2016: Journal of Allergy and Clinical Immunology in Practice
Dennis C Liotta, George R Painter
The HIV/AIDS epidemic, which was first reported on in 1981, progressed in just 10 years to a disease afflicting 10 million people worldwide including 1 million in the US. In 1987, AZT was approved for treating HIV/AIDS. Unfortunately, its clinical usefullness was severly limited by associated toxicities and the emergence of resistance. Three other drugs that were approved in the early 1990s suffered from similar liabilities. In 1990, the Liotta group at Emory University developed a highly diastereoselective synthesis of racemic 3'-thia-2',3'-dideoxycytidine and 3'-thia-2',3'-5-fluorodideoxycytidine and demonstrated that these compounds exhibited excellent anti-HIV activity with no apparent cytotoxicity...
October 5, 2016: Accounts of Chemical Research
Sonia Halioui-Louhaichi, Ons Azzabi, Nadia Mattoussi, Hasna Labiadh, Khadija Bousseta, Neji Tebib, Taher Gargah, Sayda Ben Becher, Mohamed Ridha Barbouch, Mohamed Bejaoui, Ahmed Maherzi
Background Primary immunodeficiencies (PID) are a group of heterogeneous and relatively rare diseases. Aim to determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients. Methods A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years (1991-2012). Resultats a masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases...
April 2016: La Tunisie Médicale
Esmaeil Mortaz, Payam Tabarsi, Davod Mansouri, Adnan Khosravi, Johan Garssen, Aliakbar Velayati, Ian M Adcock
The life span of patients with primary and secondary immunodeficiency is increasing due to recent improvements in therapeutic strategies. While the incidence of primary immunodeficiencies (PIDs) is 1:10,000 births, that of secondary immunodeficiencies are more common and are associated with posttransplantation immune dysfunction, with immunosuppressive medication for human immunodeficiency virus or with human T-cell lymphotropic virus infection. After infection, malignancy is the most prevalent cause of death in both children and adults with (PIDs)...
2016: Frontiers in Immunology
Sarah E Henrickson, James R Treat
Verrucae vulgaris in patients with severe combined immunodeficiency (SCID) after hematopoietic stem cell transplantation (HCST) can be challenging to manage. We describe two brothers with X-linked SCID who had severe, persistent verrucae that did not respond to traditional topical therapies, including liquid nitrogen, imiquimod, salicylic acid, sinecatechins, 40% urea, and 5-fluorourcil. Both brothers had full response to topical 3% cidofovir, which should be considered in recalcitrant warts in individuals with SCID after HSCT...
October 4, 2016: Pediatric Dermatology
Neslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, Serap Aksoylar, Salih Gozmen, Ferah Genel, Sanem Akarcan, Nesrin Gulez, Tatjana Hirschmugl, Savas Kansoy, Kaan Boztug, Necil Kutukculer
Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies...
2016: Case Reports in Immunology
Leticia Yañez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, Maria Angélica Marinovic
: Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit...
September 27, 2016: Revista Chilena de Pediatría
Eva Hlavackova, Martin Liska, Hana Jicinska, Jiri Navratil, Jiri Litzman
The Fontan operation or total cavopulmonal connection (TCPC) is a palliative surgical correction of rare and complex inborn cardiac malformations that are characterized by univentricular circulation. Protein-losing enteropathy (PLE) develops in 4-13% of patients after the Fontan procedure. Fontan-related PLE leads to secondary combined immunodeficiency marked by hypogammaglobulinemia and predominantly CD4+ lymphocytopenia. Here, we present 3 case reports of patients with secondary immunodeficiency after the Fontan operation...
September 30, 2016: International Archives of Allergy and Immunology
Janelle Geist, Aikaterini Kontrogianni-Konstantopoulos
Myosin Binding Protein-C (MyBP-C) comprises a family of accessory proteins that includes the cardiac, slow skeletal, and fast skeletal isoforms. The three isoforms share structural and sequence homology, and localize at the C-zone of the sarcomeric A-band where they interact with thick and thin filaments to regulate the cycling of actomyosin crossbridges. The cardiac isoform, encoded by MYBPC3, has been extensively studied over the last several decades due to its high mutational rate in congenital hypertrophic and dilated cardiomyopathy...
2016: Frontiers in Physiology
Maria Frantzi, Zoi Klimou, Manousos Makridakis, Jerome Zoidakis, Agnieszka Latosinska, Daniel M Borràs, Bart Janssen, Ioanna Giannopoulou, Vasiliki Lygirou, Andreas C Lazaris, Nicholas P Anagnou, Harald Mischak, Maria G Roubelakis, Antonia Vlahou
Bladder cancer (BC) is the second most common malignancy of the genitourinary system, characterized by the highest recurrence rate of all cancers. Treatment options are limited; thus a thorough understanding of the underlying molecular mechanisms is needed to guide the discovery of novel therapeutic targets. Profilins are actin binding proteins with attributed pleiotropic functions to cytoskeletal remodeling, cell adhesion, motility, even transcriptional regulation, not fully characterized yet. Earlier studies from our laboratory revealed that decreased tissue levels of Profilin-1 (PFN1) are correlated with BC progression to muscle invasive disease...
September 23, 2016: Oncotarget
Carsten Speckmann, Sam Doerken, Alessandro Aiuti, Michael H Albert, Waleed Al-Herz, Luis M Allende, Allessia Scarselli, Tadej Avcin, Ruy Perez-Becker, Caterina Cancrini, Andrew Cant, Silvia Di Cesare, Andrea Finocchi, Alain Fischer, H Bobby Gaspar, Sujal Ghosh, Andrew Gennery, Kimberly Gilmour, Luis I González-Granado, Monica Martinez-Gallo, Sophie Hambleton, Fabian Hauck, Manfred Hoenig, Despina Moshous, Benedicte Neven, Tim Niehues, Luigi Notarangelo, Capucine Picard, Nikolaus Rieber, Ansgar Schulz, Klaus Schwarz, Markus G Seidel, Pere Soler-Palacin, Polina Stepensky, Brigitte Strahm, Thomas Vraetz, Klaus Warnatz, Christine Winterhalter, Austen Worth, Sebastian Fuchs, Annette Uhlmann, Stephan Ehl
BACKGROUND: Absent T cell immunity resulting in life-threatening infections provides a clear rationale for hematopoetic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID). Combined immunodeficiencies (CID) and "atypical" SCID show reduced, not absent T-cell immunity. If associated with infections or autoimmunity, they represent profound CID (P-CID), for which outcome data are insufficient for unambiguous early transplant decisions. OBJECTIVES: We recruit non-transplanted P-CID patients aged 1-16 years to compare natural histories of severity-matched patients with/without subsequent transplantation and to determine whether immunological and/or clinical parameters may be predictive for outcome...
September 19, 2016: Journal of Allergy and Clinical Immunology
E Bukhari, F Alaklobi, H Bakheet, A Alrabiaah, F Alotibi, F Aljobair, M Alshamrani, E Alaki, F Alnahdi, A Alodyani, F Alzamil
OBJECTIVE: The bacille Calmette Guérin (BCG) vaccine is administered worldwide to prevent tuberculosis. Although, Post BCG vaccination complications like disseminated BCG infections are rare and immunocompromised children are at high risk of developing BCG-related complications including BCG-lymphadenitis and other disseminated diseases. PATIENTS AND METHODS: This was a prospective study of children who developed disseminated BCG after vaccination who were admitted in three tertiary care hospital in Riyadh, Saudi Arabia, in the year 2015...
September 2016: European Review for Medical and Pharmacological Sciences
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