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https://www.readbyqxmd.com/read/29750285/updates-in-newborn-screening
#1
Farrah Rajabi
Newborn screening in the United States is an important public health measure to provide early detection for specified disorders when early treatment is both possible and beneficial. As technology improves, newborn screening can be offered for many more conditions. In the past 10 years, screening has expanded to include severe combined immunodeficiency, congenital heart disease, lysosomal storage disease, and X-linked adrenoleukodystrophy. This article reviews the current state of newborn screening with updates on recent developments...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29749587/newborn-screening-for-severe-combined-immunodeficiency
#2
REVIEW
John Routes, James Verbsky
PURPOSE OF REVIEW: This review provides a brief history of newborn screening (NBS) for severe combined immunodeficiency (SCID), discusses the theoretical basis for the T cell receptor excision circle (TREC) assay, highlights the results of recent studies using the TREC, and provides practical advice for the evaluation of infants with an abnormal TREC assay. RECENT FINDINGS: Currently, all but three states perform NBS for SCID in the USA. NBS using the TREC assay is highly sensitive in identifying infants with SCID and may also identify infants with T cell lymphopenia due to other causes such as congenital syndromes, multiple congenital anamolies, and some combined immunodeficiencies...
May 10, 2018: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/29669293/three-dimensional-human-ipsc-derived-artificial-skeletal-muscles-model-muscular-dystrophies-and-enable-multilineage-tissue-engineering
#3
Sara Martina Maffioletti, Shilpita Sarcar, Alexander B H Henderson, Ingra Mannhardt, Luca Pinton, Louise Anne Moyle, Heather Steele-Stallard, Ornella Cappellari, Kim E Wells, Giulia Ferrari, Jamie S Mitchell, Giulia E Tyzack, Vassilios N Kotiadis, Moustafa Khedr, Martina Ragazzi, Weixin Wang, Michael R Duchen, Rickie Patani, Peter S Zammit, Dominic J Wells, Thomas Eschenhagen, Francesco Saverio Tedesco
Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced pluripotent stem cells (iPSCs) from patients with Duchenne, limb-girdle, and congenital muscular dystrophies. 3D skeletal myogenic differentiation of pluripotent cells was induced within hydrogels under tension to provide myofiber alignment. Artificial muscles recapitulated characteristics of human skeletal muscle tissue and could be implanted into immunodeficient mice...
April 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29651734/palivizumab-use-in-infants-with-down-syndrome-report-from-the-german-synagis%C3%A2-registry-2009-2016
#4
Arne Simon, Susanne Gehrmann, Gudrun Wagenpfeil, Stefan Wagenpfeil
Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis™ Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4.8 per patient and season). The median gestational age and the birth weight in patients without and with DS were 31 versus 37 weeks (P < 0...
June 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29627765/scoliosis-in-association-with-the-22q11-2-deletion-syndrome-an-observational-study
#5
Jelle F Homans, Vyaas G M Baldew, Rob C Brink, Moyo C Kruyt, Tom P C Schlösser, Michiel L Houben, Vincent F X Deeney, Terrence B Crowley, René M Castelein, Donna M McDonald-McGinn
OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little is known regarding the prevalence and characteristics of scoliosis in patients with 22q11.2DS. The objective of this study is to assess the prevalence of scoliosis, its characteristics and the association with CHD in patients with 22q11.2DS...
April 7, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29618687/-successful-cord-blood-transplantation-in-a-patient-with-adult-onset-common-variable-immunodeficiency
#6
Yuhei Harutani, Shinobu Tamura, Hiroshi Kobata, Takehiro Oiwa, Yusuke Yamashita, Toshiki Mushino, Hiroki Hosoi, Shogo Murata, Akinori Nishikawa, Kohsuke Imai, Tomohiro Morio, Takashi Sonoki
Common variable immunodeficiency (CVID) is the most frequently diagnosed congenital immunodeficiency and is characterized by dysfunctional antibody production. It often occurs at the age of ≥10 years. Here we reported a case of a 46-year-old man confirmed with adult-onset CVID. He was effectively treated with cord blood transplant (CBT). The patient was observed with repeated upper respiratory infection a few years back and was referred to our department owing to a marked decrease in neutrophil counts and progression of anemia...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29605210/a-review-of-the-etiology-and-clinical-presentation-of-non-cystic-fibrosis-bronchiectasis-a-tertiary-care-experience
#7
Ozlem Satırer, Ayse Mete Yesil, Nagehan Emiralioglu, Gökcen Dilsa Tugcu, Ebru Yalcın, Deniz Dogru, Nural Kiper, Ugur Ozcelik
INTRODUCTION: Non-cystic fibrosis(CF) bronchiectasis has been recognized in children for the past 200 years. Early childhood pneumonia and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(PCD), and congenital lung pathology should be considered in the etiology. The aim of our study was to describe the clinical characteristics, laboratory, and radiological findings of a large population of patients with non-CF bronchiectasis at a tertiary center. METHODS: We analyzed the clinical findings of 187 patients diagnosed with non-CF bronchiectasis over a period of 10 years (January 2005-December 2015) at the Hacettepe University Faculty of Medicine Department of Pediatric Pulmonology...
April 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29589181/mendelian-susceptibility-to-mycobacterial-disease-caused-by-a-novel-founder-il12b-mutation-in-saudi-arabia
#8
Abdulrahman N Alodayani, Abdulnasir M Al-Otaibi, Caroline Deswarte, Husn Habib Frayha, Matthieu Bouaziz, Maryam AlHelale, Tom Le Voyer, Alejandro Nieto-Patlan, Vimel Rattina, Mofareh AlZahrani, Rabih Halwani, Fahad Al Sohime, Hamoud Al-Mousa, Saleh Al-Muhsen, Sami H Alhajjar, Nabil S Dhayhi, Laurent Abel, Jean-Laurent Casanova, Ibrahim Bin-Hussain, May S AlBarrak, Suliman A Al-Jumaah, Jacinta Bustamante
PURPOSE: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency predisposing congenitally affected individuals to diseases caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains and environmental mycobacteria. IL-12p40 deficiency is a genetic etiology of MSMD resulting in impaired IL-12- and IL-23-dependent IFN-γ immunity. Most of the reported patients with IL-12p40 deficiency originate from Saudi Arabia (30 of 52) and carry the recurrent IL12B mutation c...
March 27, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29552009/the-effect-of-human-immunodeficiency-virus-and-cytomegalovirus-infection-on-infant-responses-to-vaccines-a-review
#9
REVIEW
Olivia Falconer, Marie-Louise Newell, Christine E Jones
The success of prevention of mother to child transmission programs over the last two decades has led to an increasing number of infants who are exposed to human immunodeficiency virus (HIV), but who are not themselves infected (HIV-exposed, uninfected infants). Although the morbidity and mortality among HIV-exposed, uninfected infants is considerably lower than that among HIV-infected infants, they may remain at increased risk of infections in the first 2 years of life compared with their HIV-unexposed peers, especially in the absence of breastfeeding...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29540804/sexual-transmission-of-zika-virus-enhances-in-utero-transmission-in-a-mouse-model
#10
Nisha K Duggal, Erin M McDonald, Jana M Ritter, Aaron C Brault
Zika virus (ZIKV) is an emerging mosquito-borne virus that can cause ZIKV congenital syndrome when a pregnant woman is infected. Sexual transmission has also been described for ZIKV, though the relationship between sexual transmission and vertical transmission has not been investigated. Here, viral dissemination to the female reproductive tract and fetuses was assessed in immunodeficient (AG129) female mice that were exposed to ZIKV by subcutaneous (s.c.) inoculation, intravaginal (ivag.) inoculation, or sexual transmission from infected male AG129 mice...
March 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29484573/genetic-and-structural-analysis-of-a-skiv2l-mutation-causing-tricho-hepato-enteric-syndrome
#11
Iddo Vardi, Ortal Barel, Michal Sperber, Michael Schvimer, Moran Nunberg, Michael Field, Jodie Ouahed, Dina Marek-Yagel, Lael Werner, Yael Haberman, Avishay Lahad, Yair Anikster, Gideon Rechavi, Iris Barshack, Joshua J McElwee, Joseph Maranville, Raz Somech, Scott B Snapper, Batia Weiss, Dror S Shouval
BACKGROUND: Advances in genomics have facilitated the discovery of monogenic disorders in patients with unique gastro-intestinal phenotypes. Syndromic diarrhea, also called tricho-hepato-enteric (THE) syndrome, results from deleterious mutations in SKIV2L or TTC37 genes. The main features of this disorder are intractable diarrhea, abnormal hair, facial dysmorphism, immunodeficiency and liver disease. AIM: To report on a patient with THE syndrome and present the genetic analysis that facilitated diagnosis...
May 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29477844/comparison-of-the-bone-regeneration-ability-between-stem-cells-from-human-exfoliated-deciduous-teeth-human-dental-pulp-stem-cells-and-human-bone-marrow-mesenchymal-stem-cells
#12
COMPARATIVE STUDY
Kengo Nakajima, Ryo Kunimatsu, Kazuyo Ando, Toshinori Ando, Yoko Hayashi, Takuya Kihara, Tomoka Hiraki, Yuji Tsuka, Takaharu Abe, Masato Kaku, Hiroki Nikawa, Takashi Takata, Kazuo Tanne, Kotaro Tanimoto
Cleft lip and palate is the most common congenital anomaly in the orofacial region. Autogenous iliac bone graft, in general, has been employed for closing the bone defect at the alveolar cleft. However, such iliac bone graft provides patients with substantial surgical and psychological invasions. Consequently, development of a less invasive method has been highly anticipated. Stem cells from human exfoliated deciduous teeth (SHED) are a major candidate for playing a significant role in tissue engineering and regenerative medicine...
March 11, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29465581/atypical-microdeletion-in-22q11-deletion-syndrome-reveals-new-candidate-causative-genes-a-case-report-and-literature-review
#13
REVIEW
Huiping Shi, Zhaoyue Wang
RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29454993/in-vitro-studies-of-disease-linked-variants-of-human-trna-nucleotidyltransferase-reveal-decreased-thermal-stability-and-altered-catalytic-activity
#14
M Leibovitch, P J Hanic-Joyce, P B M Joyce
Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of the CCA (cytidine-cytidine-adenosine) sequence to the 3'-termini of tRNAs, have been linked to disease phenotypes including congenital sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD) or retinitis pigmentosa with erythrocyte microcytosis. The effects of these disease-linked mutations on the structure and function of tRNA-NT have not been explored...
April 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29429458/-burkholderia-cepacia-infection-in-children-a-clinical-analysis-of-16-cases
#15
Fang Peng, Li-Li Zhong, Xiao-Juan Lin, Min Chen, Miao Zhou
OBJECTIVE: To investigate the distribution characteristics and clinical features of Burkholderia cepacia infection in children. METHODS: A retrospective analysis was performed for the clinical data of 16 children with Burkholderia cepacia infection who were hospitalized between June 2012 and September 2017. RESULTS: All 16 children with Burkholderia cepacia infection were sporadic cases. A total of 16 strains of Burkholderia cepacia were isolated, among which 8 were detected by sputum culture, 5 were detected by blood culture, 2 were detected by tracheal intubation tip culture, and 1 was detected by lung biopsy culture...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29410787/a-secondary-syphilis-rash-with-scaly-target-lesions
#16
Xavier Marchand-Senécal, Sapha Barkati, Danielle Bouffard, Valérie Martel-Laferrière
A 40-year-old man reported a 5-day history of fever and malaise, followed by a pruritic generalized rash. He had well-demarcated erythematous papules and plaques with scaling. The patient was diagnosed with secondary syphilis. The skin biopsy showed a psoriasiform lichenoid dermatitis with plasma cells. The anti-T. pallidum antibody confirmed the presence of spirochetes. He was also found to be hepatitis C virus and human immunodeficiency virus positive. The characteristic rash of secondary syphilis may appear as maculopapular, evolving initially from macules to small reddish-brown papules with minor scaling later...
February 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29358286/aberrant-trna-processing-causes-an-autoinflammatory-syndrome-responsive-to-tnf-inhibitors
#17
Angeliki Giannelou, Hongying Wang, Qing Zhou, Yong Hwan Park, Mones S Abu-Asab, Kris Ylaya, Deborah L Stone, Anna Sediva, Rola Sleiman, Lucie Sramkova, Deepika Bhatla, Elisavet Serti, Wanxia Li Tsai, Dan Yang, Kevin Bishop, Blake Carrington, Wuhong Pei, Natalie Deuitch, Stephen Brooks, Jehad H Edwan, Sarita Joshi, Seraina Prader, Daniela Kaiser, William C Owen, Abdullah Al Sonbul, Yu Zhang, Julie E Niemela, Shawn M Burgess, Manfred Boehm, Barbara Rehermann, JaeJin Chae, Martha M Quezado, Amanda K Ombrello, Rebecca H Buckley, Alexi A Grom, Elaine F Remmers, Jana M Pachlopnik, Helen C Su, Gustavo Gutierrez-Cruz, Stephen M Hewitt, Raman Sood, Kimberly Risma, Katherine R Calvo, Sergio D Rosenzweig, Massimo Gadina, Markus Hafner, Hong-Wei Sun, Daniel L Kastner, Ivona Aksentijevich
OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1 , a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype. METHODS: We studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)...
April 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29355460/infantile-intrathoracic-large-airway-obstruction-in-a-setting-with-a-high-prevalence-of-tuberculosis-hiv
#18
Benjamin Wybrand Barnard, Anne-Marie Du Plessis, Pierre Goussard, Richard Denys Pitcher
Background There has been no detailed analysis of the cause of intrathoracic large airway obstruction in infants in a resource-limited environment with a high prevalence of pulmonary tuberculosis (PTB) and human immunodeficiency virus (HIV). Aim To define the aetiology and severity of intrathoracic large airway obstruction in infants in a tertiary South African hospital with a high prevalence of PTB and HIV. Methods A retrospective study of infants was conducted with computerised tomography (CT) evidence of intrathoracic large airway obstruction from 1 January 2011 to 31 May 2014...
January 22, 2018: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/29353058/chd7-is-critical-for-early-t-cell-development-and-thymus-organogenesis-in-zebrafish
#19
Zhi-Zhi Liu, Zi-Long Wang, Tae-Ik Choi, Wen-Ting Huang, Han-Tsing Wang, Ying-Ying Han, Lou-Yin Zhu, Hyun-Taek Kim, Jung-Hwa Choi, Jin-Soo Lee, Hyung-Goo Kim, Jian Zhao, Yue Chen, Zhuo Lu, Xiao-Li Tian, Bing-Xing Pan, Bao-Ming Li, Cheol-Hee Kim, Hong A Xu
Coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome is a congenital disorder affecting multiple organs and mainly caused by mutations in CHD7, a gene encoding a chromatin-remodeling protein. Immunodeficiency and reduced T cells have been noted in CHARGE syndrome. However, the mechanisms underlying T lymphopenia are largely unexplored. Herein, we observed dramatic decrease of T cells in both chd7knockdown and knockout zebrafish embryos...
April 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29352135/blocking-zika-virus-vertical-transmission
#20
Pinar Mesci, Angela Macia, Spencer M Moore, Sergey A Shiryaev, Antonella Pinto, Chun-Teng Huang, Leon Tejwani, Isabella R Fernandes, Nicole A Suarez, Matthew J Kolar, Sandro Montefusco, Scott C Rosenberg, Roberto H Herai, Fernanda R Cugola, Fabiele B Russo, Nicholas Sheets, Alan Saghatelian, Sujan Shresta, Jeremiah D Momper, Jair L Siqueira-Neto, Kevin D Corbett, Patricia C B Beltrão-Braga, Alexey V Terskikh, Alysson R Muotri
The outbreak of the Zika virus (ZIKV) has been associated with increased incidence of congenital malformations. Although recent efforts have focused on vaccine development, treatments for infected individuals are needed urgently. Sofosbuvir (SOF), an FDA-approved nucleotide analog inhibitor of the Hepatitis C (HCV) RNA-dependent RNA polymerase (RdRp) was recently shown to be protective against ZIKV both in vitro and in vivo. Here, we show that SOF protected human neural progenitor cells (NPC) and 3D neurospheres from ZIKV infection-mediated cell death and importantly restored the antiviral immune response in NPCs...
January 19, 2018: Scientific Reports
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