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congenital immunodeficiency

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https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#1
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27855655/two-hits-in-one-whole-genome-sequencing-unveils-lig4-syndrome-and-urofacial-syndrome-in-a-case-report-of-a-child-with-complex-phenotype
#2
Abeer Fadda, Fiza Butt, Sara Tomei, Sara Deola, Bernice Lo, Amal Robay, Alya Al-Shakaki, Noor Al-Hajri, Ronald Crystal, Marios Kambouris, Ena Wang, Francesco M Marincola, Khalid A Fakhro, Chiara Cugno
BACKGROUND: Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are limited. We describe the first case combining both disorders in a specific phenotype. CASE PRESENTATION: We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux...
November 17, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27836054/clinical-phenotypes-of-hyper-igm-syndromes
#3
M Teresa de la Morena
The primary immunodeficiency (PID) diseases comprise a heterogeneous group of inherited disorders of immune function. Technical advancements in whole-genome, whole-exome, and RNA-sequencing have seen the explosion of genetic discoveries in the field of PIDs. The present review aims to focus on a group of immunodeficiency disorders associated with elevated levels of IgM (hyper IgM; HIGM) and provides a clinical differential diagnosis. Most patients present for evaluation of immunodeficiency due to recurrent infections, and laboratory studies show either a clear isolated elevation of serum immunoglobulin M (IgM) with low or absent IgG, IgA, and IgE...
November 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27835624/cuba-validated-as-the-first-country-to-eliminate-mother-to-child-transmission-of-human-immunodeficiency-virus-and-congenital-syphilis-lessons-learned-from-the-implementation-of-the-global-validation-methodology
#4
Sonja Caffe, Freddy Perez, Mary L Kamb, Rodolfo Gomez Ponce de Leon, Monica Alonso, Ralph Midy, Lori Newman, Chika Hayashi, Massimo Ghidinelli
No abstract text is available yet for this article.
December 2016: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/27823605/lipodystrophy-syndromes
#5
REVIEW
Iram Hussain, Abhimanyu Garg
Lipodystrophies are heterogeneous disorders characterized by varying degrees of body fat loss and predisposition to insulin resistance and its metabolic complications. They are subclassified depending on degree of fat loss and whether the disorder is genetic or acquired. The two most common genetic varieties include congenital generalized lipodystrophy and familial partial lipodystrophy; the two most common acquired varieties include acquired generalized lipodystrophy and acquired partial lipodystrophy. Highly active antiretroviral therapy-induced lipodystrophy in patients infected with human immunodeficiency virus and drug-induced localized lipodystrophy are common subtypes...
December 2016: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/27777981/extrapulmonary-aspergillus-infection-in-patients-with-card9-deficiency
#6
Nikolaus Rieber, Roel P Gazendam, Alexandra F Freeman, Amy P Hsu, Amanda L Collar, Janyce A Sugui, Rebecca A Drummond, Chokechai Rongkavilit, Kevin Hoffman, Carolyn Henderson, Lily Clark, Markus Mezger, Muthulekha Swamydas, Maik Engeholm, Rebecca Schüle, Bettina Neumayer, Frank Ebel, Constantinos M Mikelis, Stefania Pittaluga, Vinod K Prasad, Anurag Singh, Joshua D Milner, Kelli W Williams, Jean K Lim, Kyung J Kwon-Chung, Steven M Holland, Dominik Hartl, Taco W Kuijpers, Michail S Lionakis
Invasive pulmonary aspergillosis is a life-threatening mycosis that only affects patients with immunosuppression, chemotherapy-induced neutropenia, transplantation, or congenital immunodeficiency. We studied the clinical, genetic, histological, and immunological features of 2 unrelated patients without known immunodeficiency who developed extrapulmonary invasive aspergillosis at the ages of 8 and 18. One patient died at age 12 with progressive intra-abdominal aspergillosis. The other patient had presented with intra-abdominal candidiasis at age 9, and developed central nervous system aspergillosis at age 18 and intra-abdominal aspergillosis at age 25...
October 20, 2016: JCI Insight
https://www.readbyqxmd.com/read/27756424/isolated-congenital-complete-heart-block-in-a-five-year-old-seronegative-girl-born-to-a-woman-seropositive-for-human-immunodeficiency-virus-a-case-report
#7
Pedro Pallangyo, Isaac Mawenya, Paulina Nicholaus, Henry Mayala, Amida Kalombola, Godwin Sharau, Naiz Majani, Mohamed Janabi
BACKGROUND: Congenital complete heart block is a life-threatening condition which is highly associated with autoimmune and connective tissue disorders. Presence of maternal autoantibodies for associated conditions increases the risk of delivering a child with congenital complete heart block, however, less than a half of all women with such antibodies are symptomatic even after delivery. Mortality rate is highest during the neonatal period (45 %) and about two-thirds of all cases will require permanent pacing at some point in their lives...
October 19, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27723692/-types-of-immune-response-in-advanced-suppurative-peritonitis
#8
A G Borisov, A A Savchenko, D V Cherdantsev, D E Zdzitovetsky, O V Pervova, I V Kudryavtsev, V D Belenyuk, V A Shapkina
AIM: to assess types of immune response in patients with advanced suppurative peritonitis and course of disease. MATERIAL AND METHODS: We examined 79 patients with acute surgical abdominal diseases and injuries complicated by advanced suppurative peritonitis. Blood immunological parameters were estimated using flowing cytometry and enzyme immunoassay. RESULTS: It was concluded that functional parameters of immune system are very various in patients with advanced suppurative peritonitis...
2016: Khirurgiia
https://www.readbyqxmd.com/read/27699073/early-diagnosis-and-hematopoietic-stem-cell-transplantation-for-il10r-deficiency-leading-to-very-early-onset-inflammatory-bowel-disease-are-essential-in-familial-cases
#9
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
https://www.readbyqxmd.com/read/27692490/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#10
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
https://www.readbyqxmd.com/read/27683561/mybpc1-an-emerging-myopathic-gene-what-we-know-and-what-we-need-to-learn
#11
REVIEW
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
https://www.readbyqxmd.com/read/27673425/treatment-of-perinatal-viral-infections-to-improve-neurologic-outcomes
#12
REVIEW
William J Muller
Viral infections in the fetus or newborn often involve the central nervous system (CNS) and can lead to significant morbidity and mortality. Substantial progress has been made in identifying interventions decreasing adverse neurodevelopmental outcomes in this population. This review highlights progress in treatment of important viruses affecting the CNS in these susceptible hosts, focusing on herpes simplex virus (HSV), cytomegalovirus (CMV), human immunodeficiency virus (HIV), and enteroviruses. The observation that high-dose acyclovir improves mortality in neonatal HSV disease culminated decades of antiviral research for this disease...
October 26, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27651673/toxoplasma-infection-in-sheep-from-south-of-iran-monitored-by-serological-and-molecular-methods-risk-assessment-to-meat-consumers
#13
Belal Armand, Kavous Solhjoo, Manoochehr Shabani-Kordshooli, Mohammad Hasan Davami, Mehdi Sadeghi
AIM: Toxoplasma gondii has a clinical and veterinary importance as it is known to cause congenital disease and abortion both in humans and livestock. Since the contaminated lamb is one of the sources of human infection, this study was performed to determine the prevalence of T. gondii in sheep in south of Iran. MATERIALS AND METHODS: Sera and tissue samples (diaphragm and heart) were collected from 370 sheep from slaughterhouse of Jahrom. The samples were taken from both sexes and from 6 to 60 months age...
August 2016: Veterinary World
https://www.readbyqxmd.com/read/27642336/long-term-follow-up-study-on-a-large-group-of-patients-with-congenital-factor-xiii-deficiency-treated-prophylactically-with-fibrogammin-p%C3%A2
#14
Majid Naderi, Mehran Karimi, Maryam Sadat Hosseini, Es Hagh Moradi, Morteza Shamsizadeh, Akbar Dorgalaleh
Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with a prevalence of 1/3-5 million. Management of disease is performed by fresh frozen plasma (FFP), Cryoprecipitate (CP) or FXIII concentrate (Fibrogammin P®). Our objective was to assess safety and effectiveness of Fibrogammin P® in patients with FXIIID. For this purpose we designed this long-term follow up study on a large group of patients with FXIIID. This prospective study was conducted on 213 patients with FXIIID since 2009 to 2013...
2016: Iranian Journal of Pharmaceutical Research: IJPR
https://www.readbyqxmd.com/read/27636936/-pulmonary-manifestations-in-adult-patients-with-a-defect-in-humoral-immunity
#15
T V Latysheva, E A Latysheva, I A Martynova, G E Aminova
Primary immunodeficiencies (PIDs) are a group of congenital diseases of the immune system, which numbers more than 230 nosological entities associated with lost, decreased, or wrong function of its one or several components. Due to the common misconception that these are extremely rare diseases that occur only in children and lead to their death at an early age, PIDs are frequently ruled out by physicians of related specialties from the range of differential diagnosis. The most common forms of PIDs, such as humoral immunity defects, common variable immune deficiency, X-linked agammaglobulinemia, selective IgA deficiency, etc...
2016: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/27629763/angiogenic-potential-of-human-bone-marrow-derived-mesenchymal-stem-cells-in-chondrocyte-brick-enriched-constructs-promoted-stable-regeneration-of-craniofacial-cartilage
#16
Zhiye Li, Ruikai Ba, Zhifa Wang, Jianhua Wei, Yimin Zhao, Wei Wu
: : Craniofacial deformities caused by congenital defects or trauma remain challenges for clinicians, whereas current surgical interventions present limited therapeutic outcomes. Injection of bone marrow-derived mesenchymal stem cells (BMSCs) into the defect is highly desirable because such a procedure is microinvasive and grafts are more flexible to fill the lesions. However, preventing hypertrophic transition and morphological contraction remain significant challenges. We have developed an "all host derived" cell transplantation system composed of chondrocyte brick (CB)-enriched platelet-rich plasma (P) gel and BMSCs (B)...
September 14, 2016: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/27627852/severe-neonatal-cmv-infection-complicated-with-thrombotic-microangiopathy-successfully-treated-with-ganciclovir
#17
Noriko Mitsuiki, Keita Tamanuki, Kenshi Sei, Jun Ito, Aiko Kishi, Kenji Kobayashi, Yoshiho Hatai, Masayuki Nagasawa
We report a neonate of severe cytomegalovirus (CMV) infection who presented vomiting, severe thrombocytopenia and thrombotic microangiopathy (TMA). He showed occasional vomiting at 3 weeks of age and visited us with systemic petechiae at 29 days old. Platelet was markedly decreased to 18,000/μL and fragmented red blood cells were increased in the peripheral blood. Intravenous ganciclovir (GCV) administration was started at 35 days old after detection of CMV in the peripheral blood. His normal values of T-cell receptor excision circles (TREC) and signal joint kappa-deleting recombination excision circles (sjKREC) excluded the possibility of severe immunodeficiency...
September 11, 2016: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/27627457/zika-virus-induced-mortality-and-microcephaly-in-chicken-embryos
#18
Forrest T Goodfellow, Blanka Tesla, Gregory Simchick, Qun Zhao, Thomas Hodge, Melinda A Brindley, Steven L Stice
The explosive spread of the Zika virus (ZIKV) through South and Central America has been linked to an increase in congenital birth defects, specifically microcephaly. Representative rodent models for investigating infections include direct central nervous system (CNS) injections late in pregnancy and transplacental transmission in immunodeficient mice. Microcephaly in humans may be the result of infection occurring early in pregnancy, therefore recapitulating that the human course of ZIKV infection should include normal embryo exposed to ZIKV during the first trimester...
November 15, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27606021/refractory-status-epilepticus-due-to-pneumococcal-meningitis-in-an-infant-with-congenital-immunodeficiency
#19
Sudhakaran Prasanth, Velayudhan Cheruvallil Shaji, Chacko Lyla, Vasudevapanicker Jayalakshmi
Pneumococcal meningitis remains a life-threatening infection, with varied presentations. A 3 month-old-baby with pneumococcal meningitis presented with clusters of seizures evolving into refractory status epilepticus despite standard antibiotic and aggressive anticonvulsant therapy. Progressive illness despite antibiotic initially suggested possible antibiotic resistance and resulted in addition of another antibiotic. Nonresponse to standard treatment and previous history of abscess in the back of neck pointed to some underlying congenital immunodeficiency...
April 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27598894/a-case-of-isolated-coronary-artery-ectasia-in-the-setting-of-chronic-inflamation-from-human-immunodeficiency-virus-infection
#20
Mark R Heckle, Raza Askari, Mohamed Morsy, Uzoma N Ibebuogu
Coronary artery ectasia also known as dilated coronopathy is a relatively rare finding that is most commonly associated with atherosclerosis. Several alternative reasons including congenital malformations and chronic inflammation have been identified as a cause of CAE. In this case, we discuss a 61-year-old male with postoperative chest pain who was found to have localized CAE in the absence of significant atherosclerosis. We also elucidate the recently proposed markers of chronic inflammation that might be associated with coronary artery ectasia...
July 2016: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
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