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congenital immunodeficiency

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https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#1
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29138020/moyamoya-syndrome-in-a-pediatric-patient-with-congenital-human-immunodeficiency-virus-type-1-infection-resulting-in-intracranial-hemorrhage
#2
Junko Yamanaka, Ikuma Nozaki, Mizue Tanaka, Hideko Uryuu, Noriko Sato, Takeji Matsushita, Hiroyuki Shichino
In the era of Antiretroviral Therapy (ART) in which human immunodeficiency virus type 1 (HIV-1) infection affected children can expect a better prognosis, the importance of careful follow up of pediatric HIV-1 cases for neurological complications has been growing. We present a case of hemorrhagic Moyamoya syndrome in a child with congenital HIV-1 infection. A 10-year-old girl was referred to our hospital for the treatment of Pneumocystis Jirovecii Pneumonia (PCP: Pneumocystis pneumonia). Her HIV-1 control was poor and Moyamoya syndrome was found during the opportunistic infection screening at admission...
November 11, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29056561/bloom-syndrome-does-not-always-present-with-sun-sensitive-facial-erythema
#3
Arjan Bouman, Silvana van Koningsbruggen, M Bariş Karakullukcu, Willem Hans Schreuder, Phillis Lakeman
Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though reported as being a main feature of Bloom syndrome, there seems to be phenotypic variability regarding this facial skin rash among patients...
October 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29046517/a-rare-association-of-congenital-asplenia-with-jejunal-arteriovenous-malformation
#4
Jelena Z Arnautovic, Areej Mazhar, Stela Tereziu, Kashvi Gupta
BACKGROUND Isolated congenital asplenia is a poorly understood and rare form of primary immunodeficiency, often associated with life-threatening infections. CASE REPORT We encountered a unique case of a 22-year-old asplenic male who presented with severe iron-deficiency anemia secondary to occult gastrointestinal bleeding since age 15. Our extensive work-up confirmed jejunal arteriovenous malformations as the source of the bleed. Six months after the treatment, the patient has reported no further episodes of gastrointestinal bleeding and his hemoglobin has remained stable...
October 19, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29023302/complete-resolution-of-lymphoid-interstitial-pneumonia-in-a-patient-with-juvenile-myelomonocytic-leukemia-treated-with-allogeneic-bone-marrow-transplant-killing-2-birds-with-1-stone
#5
Anant Vatsayan, Ravi Talati, Kristen Nagle, Linda Cabral, Sloane Cammock, Amy Dimarino, Rachel Egler, Shahrazad Saab, Jignesh Dalal
Lymphoid interstitial pneumonia (LIP) is a rare disease characterized by benign reactive polyclonal proliferation of bronchus-associated lymphoid tissue after exposure to inhaled or circulating antigen(s), leading to a disease symptomatology similar to idiopathic interstitial pneumonia. Its association with diseases that are caused due to immune dysregulation (autoimmune diseases, congenital/acquired immunodeficiency, and allogeneic bone marrow transplant) and response to immunomodulatory/suppressive medications suggests an immunologic pathophysiology...
October 11, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29017675/familial-hodgkin-lymphoma
#6
Mahwish Faizan, Rahat Ul Ain Kashif, Saadia Anwar, Mansoor Safdar
Hodgkin Lymphoma (HL) is a lymphoid tumour that represents about 1% of all neoplasms occurring worldwide. HLis the most treatable of childhood malignancies. The etiology of HLis unknown. However, increase risk has been reported in males, with autoimmune diseases, poor socioeconomic status, increased family size, Ebstein Barr Virus (EBV) exposure, congenital or acquired immunodeficiency and those with a family history of HL. Familial HLis rare. The risk of developing HLis increased six times in the siblings of the affected patients...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28972010/thyroid-hormone-regulates-hematopoiesis-via-the-tr-klf9-axis
#7
Ying Zhang, Yuanyuan Xue, Chunwei Cao, Jiaojiao Huang, Qianlong Hong, Tang Hai, Qitao Jia, Xianlong Wang, Guosong Qin, Jing Yao, Xiao Wang, Qiantao Zheng, Rui Zhang, Yongshun Li, Ailing Luo, Nan Zhang, Guizhi Shi, Yanfang Wang, Hao Ying, Zhonghua Liu, Hongmei Wang, Anming Meng, Qi Zhou, Hong Wei, Feng Liu, Jianguo Zhao
Congenital hypothyroidism (CH) is one of the most prevalent endocrine diseases and is often accompanied by anemia and immunodeficiency in patients, for which the underlying mechanisms remain unknown. Here we created a severe CH model together with anemia and T lymphopenia to mimic the clinical features of hypothyroid patients by ethylnitrosourea (ENU) mutagenesis in Bama miniature pigs. A novel recessive c.1226A>G transition of the dual oxidase 2 (DUOX2) gene was identified as the causative mutation. This mutation hindered the production of hydrogen peroxide (H2O2) and thus contributed to thyroid hormone (TH) synthesis failure...
September 25, 2017: Blood
https://www.readbyqxmd.com/read/28967497/pulmonary-artery-hypertension-in-childhood-the-transforming-growth-factor-%C3%AE-superfamily-related-genes
#8
REVIEW
Shi-Min Yuan
Pulmonary artery hypertension (PAH) is very rare in childhood, and it can be divided into heritable, idiopathic drug- and toxin-induced and other disease (connective tissue disease, human immunodeficiency virus infection, portal hypertension, congenital heart disease, or schistosomiasis)-associated types. PAH could not be interpreted solely by pathophysiological theories. The impact of the transforming growth factor-β superfamily-related genes on the development of PAH in children remains to be clarified. Pertinent literature on the transforming growth factor-β superfamily-related genes in relation to PAH in children published after the year 2000 was reviewed and analyzed...
August 12, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28940864/the-22q11-2-deletion-syndrome-cancer-predisposition-platelet-abnormalities-and-cytopenias
#9
REVIEW
Michele P Lambert, Abinaya Arulselvan, Amanda Schott, Stephen J Markham, Terrance B Crowley, Elaine H Zackai, Donna M McDonald-McGinn
The 22q11.2 deletion syndrome (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial syndromes, including congenital heart disease, immunodeficiency, hypocalcemia, and palatal abnormalities, to subtly affected adults who only come to attention following the diagnosis of a more severely affected child. The multiple manifestations can affect all organ systems, including the hematologic system resulting in baseline lower platelet counts for individuals with 22q11...
September 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28932937/foxn1-deficiency-from-the-discovery-to-novel-therapeutic-approaches
#10
REVIEW
Vera Gallo, Emilia Cirillo, Giuliana Giardino, Claudio Pignata
Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28820706/high-prevalence-of-treponema-pallidum-infection-in-brazilian-prisoners
#11
Maisa Estopa Correa, Julio Croda, Ana Rita Coimbra Motta de Castro, Sandra Maria do Valle Leone de Oliveira, Maurício Antonio Pompilio, Ronaldo Omizolo de Souza, Júlio Henrique Ferreira de Sá Queiroz, Kesia Esther da Silva, Albert I Ko, Simone Simionatto
The number of new syphilis cases in Brazil has risen alarmingly in recent years. However, there is limited data regarding syphilis prevalence in the Brazilian prison population. To facilitate the development of effective interventions, a cross-sectional study was undertaken to determine the prevalence of Treponema pallidum infection, active syphilis, and associated risk factors among Brazilian prisoners. We administered a questionnaire to a population-based sample of prisoners from 12 prisons in Central-West Brazil and collected sera for syphilis testing, from January to December 2013...
October 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28768817/cxcr4-specific-nanobodies-as-potential-therapeutics-for-whim-syndrome
#12
Raymond H de Wit, Raimond Heukers, Hendrik J Brink, Angela Arsova, David Maussang, Pasquale Cutolo, Beatrijs Strubbe, Henry F Vischer, Françoise Bachelerie, Martine J Smit
WHIM syndrome is a rare congenital immunodeficiency disease, named after its main clinical manifestations: warts, hypogammaglobulinemia, infections, and myelokathexis, which refers to abnormal accumulation of mature neutrophils in the bone marrow. The disease is primarily caused by C-terminal truncation mutations of the chemokine receptor CXCR4, giving these CXCR4-WHIM mutants a gain of function in response to their ligand CXCL12. Considering the broad functions of CXCR4 in maintaining leukocyte homeostasis, patients are panleukopenic and display altered immune responses, likely as a consequence of impairment in the differentiation and trafficking of leukocytes...
October 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28726798/gene-therapy-research-in-asia
#13
REVIEW
H-X Deng, Y Wang, Q-R Ding, D-L Li, Yu-Quan Wei
Gene therapy has shown great potential for the treatment of diseases that previously were either untreatable or treatable but not curable with conventional schemes. Recent progress in clinical gene therapy trials has emerged in various severe diseases, including primary immunodeficiencies, leukodystrophies, Leber's congenital amaurosis, haemophilia, as well as retinal dystrophy. The clinical transformation and industrialization of gene therapy in Asia have been remarkable and continue making steady progress...
September 7, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28712180/causes-of-chronic-non-infectious-diarrhoea-in-infants-less-than-6-months-of-age-rarely-recognized-entities
#14
Iqra Mushtaq, Huma Ashraf Cheema, Hassan Suleman Malik, Nadia Waheed, Muhammad Almas Hashmi, Hassan Suleman Malik
BACKGROUND: Non-infectious causes of chronic diarrhoea are important and easily missed. The study was done with the objectives to identify different causes of chronic non-infectious diarrhoea in infants less than 6 months of age. METHODS: All patients less than 6 months of age presenting for the first time to a Paediatric Gastroenterology tertiary care centre with a history of chronic diarrhoea and negative stool cultures were enrolled over a period of 8 months...
January 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28694008/-reduced-intensity-conditioning-haematopoietic-stem-cell-transplantation-in-genetic-diseases-experience-of-the-spanish-working-group-for-bone-marrow-transplantation-in-children
#15
Lucía López-Granados, Montserrat Torrent, Ana Sastre, Marta Gonzalez-Vicent, Cristina Díaz de Heredia, Bienvenida Argilés, Antonia Pascual, José M Pérez-Hurtado, Luisa Sisinni, Miguel Ángel Diaz, Izaskun Elorza, M Angeles Dasí, Isabel Badell
INTRODUCTION: Haematopoietic stem cell transplantation (HSCT) involves implanting cellular elements capable of generating a new and healthy haematopoietic system. Reduced intensity conditioning (RIC) consists of an immunosuppressive treatment to facilitate a progressive implant with lower morbidity. This type of conditioning can also lead to myelosuppression, which is potentially reversible over time. Reduced intensity conditioning enables HSCT to be performed on patients with genetic diseases for whom added comorbidity is undesirable due to the high doses of chemotherapy that accompanies conventional myeloablative regimens...
July 7, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28682769/epidemiology-of-toxoplasma-gondii-infection-in-native-tibetans-in-tibet-china
#16
Kun Li, Meng Wang, Hui Zhang, Zhixin Lei, Lihong Zhang, Houqiang Luo, Gang Qiu, Khalid Mehmood, Muhammad Shahzad, Jiakui Li
Toxoplasma gondii (T. gondii) is one of the most common and widespread protozoan parasite which caused toxoplasma infection in animals and humans. Toxoplasma infection in healthy people is usually asymptomatic and it can lead to serious pathological effects in congenital cases and immunodeficient patients. The aim of the study is to investigate the prevalence of T. gondii infection in native Tibetans in Tibet as scarce information is available on such a high plateau. A total of 600 blood samples were collected from Tibetans people who visited the hospital in Nyingchi city with the history of flu, swollen lymph glands, muscle pain, and neurological or eyes complications (showing single or more signs)...
September 26, 2017: Acta Parasitologica
https://www.readbyqxmd.com/read/28658867/diagnostic-dilemma-in-a-15-year-old-boy-with-recurrent-pneumococcal-meningitis
#17
Aniruddha Ghosh, Saurav Sharma, Partha Pratim Halder, Arunaloke Bhattacharya, Swapan Mukherjee
Recurrent bacterial meningitis is very rare phenomenon in paediatric age group. Finding the aetiology of recurrent meningitis often poses diagnostic challenge to clinicians. Among the several aetiologies, structural deficiencies at the base of skull, congenital or acquired, are readily correctable ones and hence it's imperative to find out the location of the gap in order to surgically repair it. We report the diagnostic dilemma faced while managing a 15-year-old boy with recurrent pneumococcal meningitis. Aetiology could only be found after exclusion of immunodeficiency and performing a series of imaging studies...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28649784/allogeneic-hematopoietic-stem-cell-transplantation-in-congenital-disorders-a-single-center-experience
#18
Maura Faraci, Stefano Giardino, Francesca Bagnasco, Giuseppe Morreale, M Paola Terranova, Daniela Di Martino, Edoardo Lanino
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the treatment of choice for a variety of congenital disorders. We report the experience of children affected by congenital diseases other than bone marrow failure syndromes who received allo-HSCT over a period of 25 years at G. Gaslini Paediatric Research Institute. HSCTs were performed in 57 children with congenital diseases (25 with congenital immunodeficiencies, 10 with severe combined immunodeficiencies, and 22 with metabolic diseases). Overall survival rate at 3 years in the whole group of patients was 76...
September 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28640799/screening-for-syphilis-and-other-sexually-transmitted-infections-in-pregnant-women-guam-2014
#19
Susan Cha, Tasneem Malik, Winston E Abara, Mia S DeSimone, Bernadette Schumann, Esther Mallada, Michael Klemme, Vince Aguon, Anne Marie Santos, Thomas A Peterman, Gail Bolan, Mary L Kamb
Prenatal screening and treatment for sexually transmitted infections (STIs) can prevent adverse perinatal outcomes. In Guam, the largest of the three U.S. territories in the Pacific, primary and secondary syphilis rates among women increased 473%, from 1.1 to 6.3 per 100,000 during 2009-2013 (1). In 2013, the first congenital syphilis case after no cases since 2008 was reported (1,2). Little is known about STI screening coverage and factors associated with inadequate screening among pregnant women in Guam. This study evaluated the prevalence of screening for syphilis, human immunodeficiency virus (HIV), chlamydia, and gonorrhea, and examined correlates of inadequate screening among pregnant women in Guam...
June 23, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28638688/spontaneous-regression-of-epstein-barr-virus-associated-lymphoproliferative-disorder-in-a-juvenile-idiopathic-arthritis-patient-after-the-discontinuation-of-methotrexate-and-etanercept
#20
Ariane Klein, Harald Reinhard, Annette M Mueller, Gerd Horneff
A case of a 16-year-old female with polyarticular juvenile idiopathic arthritis (JIA) since the age of 4 years is reported here. This patient also suffered from multiple congenital anomalies. On long-term treatment with oral methotrexate (MTX) and etanercept, multiple subcutaneous nodules were detected, which were accompanied by increased lactate dehydrogenase and uric acid levels. A biopsy of the largest nodule revealed Epstein-Barr (EB) virus-positive diffuse large B-cell lymphoma (DLBCL). The patient was classified as clinical stage IIIA due to a mediastinal lesion...
June 2017: European Journal of Rheumatology
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