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congenital immunodeficiency

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
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
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...
February 26, 2018: Digestive Diseases and Sciences
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...
February 22, 2018: Biochemical and Biophysical Research Communications
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)
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...
February 15, 2018: Biochimica et Biophysica Acta
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
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
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)...
January 22, 2018: Annals of the Rheumatic Diseases
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
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 Xu
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. Here, we observed dramatic decrease of T cells in both chd7-knockdown and -knockout zebrafish embryos. Unexpectedly, hematopoietic stem and progenitor cells and, particularly, lymphoid progenitor cells were increased peripherally in nonthymic areas in chd7-deficient embryos, unlikely to contribute to the T cell decrease...
January 15, 2018: American Journal of Pathology
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
David Regnault, Louis d'Alteroche, Charlotte Nicolas, Fanny Dujardin, Jean Ayoub, Jean Marc Perarnau
BACKGROUND: Transjugular intrahepatic portosystemic shunt (TIPS) is considered to be well suited for the treatment of noncirrhotic portal hypertension (NCPHT) because of a usually severe portal hypertension (PHT) and a mild liver failure, but very less data are available. PATIENTS AND METHODS: Records of patients referred for TIPS between 2004 and 2015 for NCPHT were reviewed. No patient should have clinical or biological or histological features of cirrhosis. RESULTS: Twenty-five patients with a wide variety of histological lesions (sinusoidal dilatations, granulomatosis, regenerative nodular hyperplasia, obliterative portal venopathy, or subnormal liver) and a wide variety of associated diseases (thrombophilia, sarcoidosis, common variable immunodeficiency, scleroderma, Castleman's disease, early primitive biliary cirrhosis, congenital liver fibrosis, chemotherapy, purinethol intake, and congenital varices) were included...
January 10, 2018: European Journal of Gastroenterology & Hepatology
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
Kun Xu, Yufeng Song, Lianpan Dai, Yongli Zhang, Xuancheng Lu, Yijia Xie, Hangjie Zhang, Tao Cheng, Qihui Wang, Qingrui Huang, Yuhai Bi, William J Liu, Wenjun Liu, Xiangdong Li, Chuan Qin, Yi Shi, Jinghua Yan, Dongming Zhou, George F Gao
The recent outbreak of Zika virus (ZIKV) has emerged as a global health concern. ZIKV can persist in human semen and be transmitted by sexual contact, as well as by mosquitos as seen for classical arboviruses. We and others have previously demonstrated that ZIKV infection leads to testis damage and infertility in mouse models. So far, no prophylactics or therapeutics are available, therefore, vaccine development is urgently demanded. Recombinant chimpanzee adenovirus has been explored as the preferred vaccine vector for many pathogens due to the low pre-existing immunity against the vector among the human population...
January 3, 2018: Journal of Virology
Ana Forjaz de Lacerda, Barbara Gomes
BACKGROUND: Children and adolescents dying from complex chronic conditions require paediatric palliative care. One aim of palliative care is to enable a home death if desired and well supported. However, there is little data to inform care, particularly from countries without paediatric palliative care, which constitute the majority worldwide. METHODS: This is an epidemiological study analysing death certificate data of decedents aged between 0 and 17 years in Portugal, a developed Western European country without recognised provision of paediatric palliative care, from 1987 to 2011...
December 22, 2017: BMC Pediatrics
Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim, Beom Hee Lee
Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG...
March 2018: Journal of Human Genetics
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
Jan Styczynski
Cytomegalovirus (CMV) is an agent of global infection, and its acquisition in a population is characterized by an age-dependent rise in seropositivity. After primary infection, CMV remains in the host cells in latent form, and it can reactivate in the case of immune suppression. The risk of CMV recurrence is dependent on the level of incompetency of the immune system, manifested as an impairment of T-cell immunity, including the presence and function of CMV-specific cytotoxic T lymphocytes. This article presents data on the incidence of CMV recurrence in groups of immunocompromised patients, including allogeneic hematopoietic stem cell transplantation (HSCT) patients and other groups of patients, based on a summary of reported data...
March 2018: Infectious Diseases and Therapy
Cora Alexandra Voekt, Therese Rinderknecht, Hans Hellmuth Hirsch, Annette Blaich, Irene Mathilde Hösli
AIMS OF THE STUDY: Fetal abnormalities found on ultrasonography lead to a variety of diagnostic procedures, including a panel of serologies to detect possible maternal STORCH infections encompassing syphilis, Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex, and others (human immunodeficiency virus, hepatitis B and C, parvovirus B19, enterovirus, varicella zoster, and Leptospira interrogans). The value of indiscriminate testing for infections upon the detection of fetal ultrasound abnormalities has been questioned...
November 29, 2017: Swiss Medical Weekly
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