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congenital immunodeficiency

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https://www.readbyqxmd.com/read/28197808/age-related-alterations-of-the-cd19-complex-and-memory-b-cells-in-children-with-down-syndrome
#1
Ayse Nazli Seckin, Hulya Ozdemir, Ayca Ceylan, Hasibe Artac
Children with Down syndrome (DS) have a high incidence of recurrent respiratory tract infections, leukaemia and autoimmune disorders, suggesting immune dysfunction. The present study evaluated the role of the CD19 complex and memory B cells in the pathogenesis of immunodeficiency in children with DS. The expression levels (median fluorescein intensity-MFI) of CD19, CD21 and CD81 molecules on the surface of B cells and memory B cell subsets were studied in 37 patients and 39 healthy controls. Twenty-nine of the DS group had congenital cardiac disease...
February 14, 2017: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/28191761/angiogenic-potential-of-human-bone-marrow-derived-mesenchymal-stem-cells-in-chondrocyte-brick-enriched-constructs-promoted-stable-regeneration-of-craniofacial-cartilage
#2
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)...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28184323/congenital-tuberculosis-a-newborn-case-report-with-rare-manifestation
#3
Hadi Khorsand Zak, Shahin Mafinezhad, Ali Haghbin
INTRODUCTION: Congenital tuberculosis is an infrequently encountered condition and only 300 cases were reported in the literature till 1989. There are no specific signs and symptoms pathognomonic for congenital TB, and the devastating consequences in the absence of early therapy signify the importance of early diagnosis and treatment during the neonatal period. CASE PRESENTATION: In this paper we report on a case of congenital TB in a newborn who was admitted to our clinic with seizures and intraventricular hemorrhage (IVH) due to TB meningitis...
October 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28121955/childhood-recurrent-pneumonia-caused-by-endobronchial-sutures-a-case-report
#4
Yiheng Zan, Hanmin Liu, Lin Zhong, Li Qiu, Qingfen Tao, Lina Chen
BACKGROUND: Recurrent pneumonia is defined as more than two episodes of pneumonia in one year or three or more episodes anytime in life. Common clinical scenarios leading to recurrent pneumonia include anatomical abnormalities of respiratory tract, immunodeficiency, congenital heart diseases, primary ciliary dyskinesia, etc. CASE REPORT: A school-aged girl suffered from 1-2 episodes of pneumonia each year after trachea connection and lung repair operation resulted from an accident of car crash...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28089909/immunosuppression-via-loss-of-il2r%C3%AE-enhances-long-term-functional-integration-of-hesc-derived-photoreceptors-in-the-mouse-retina
#5
Jie Zhu, Helen Cifuentes, Joseph Reynolds, Deepak A Lamba
Loss of photoreceptors is a common endpoint in degenerative retinal diseases. Human pluripotent stem cells provide a potential source for photoreceptor replacement, but, even in mouse models, the efficiency and efficacy of transplantation-based repair remains poor. In this study, we examined the degree to which immune rejection contributes to these disappointing outcomes using an immunodeficient IL2 receptor γ (IL2rγ)-null mouse model. Our results show that prevention of cell rejection in the normal and degenerating retinal environment significantly improves long-term survival and integration of hESC-derived donor retinal cells...
December 29, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/28077132/foxn1-deficient-nude-severe-combined-immunodeficiency
#6
REVIEW
Ioanna A Rota, Fatima Dhalla
Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies on testing for FOXN1 mutations, which allows genetic counselling and guides therapeutic management...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28013480/disseminated-cryptococcosis-due-to-anti-granulocyte-macrophage-colony-stimulating-factor-autoantibodies-in-the-absence-of-pulmonary-alveolar-proteinosis
#7
Chen-Yen Kuo, Shang-Yu Wang, Han-Po Shih, Kun-Hua Tu, Wen-Chi Huang, Jing-Ya Ding, Chia-Hao Lin, Chun-Fu Yeh, Mao-Wang Ho, Shi-Chuan Chang, Chi-Ying He, Hung-Kai Chen, Chen-Hsuan Ho, Chen-Hsiang Lee, Chih-Yu Chi, Cheng-Lung Ku
INTRODUCTION: Autoantibodies to granulocyte-macrophage colony-stimulating factor (GM-CSF) can cause acquired pulmonary alveolar proteinosis (PAP). Cases of acquired PAP susceptible to typical respiratory pathogens and opportunistic infections have been reported. Anti-GM-CSF autoantibodies have been reported in a few patients with cryptococcal meningitis. This study evaluated the presence of neutralizing anti-GM-CSF autoantibodies in patients without known congenital or acquired immunodeficiency with severe pulmonary or extrapulmonary cryptococcal infection but without PAP...
February 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27999698/necrotizing-retinitis-secondary-to-congenital-cytomegalovirus-infection-associated-with-severe-combined-immunodeficiency
#8
Pehmen Yasin Ozcan, Hasan Tolga Celik, Kenan Sonmez, Melda Celik
A 20-day-old male infant who was born at 39 weeks of gestation was admitted to neonatal intensive care unit due to severe respiratory insufficiency. In retinal examination, peripheric retinal white-black color areas that correspond to necrotizing retinitis, moderate vitritis, macular and optic nerve head involvement, vascular leakage, and sheathing indicating perivasculitis were revealed. Despite the fact that CMV specific IgM was undetectable, CMV DNA with high viral load was found in his blood sample by means of real-time polymerase chain reaction assay...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27994588/genetic-causes-of-human-nk-cell-deficiency-and-their-effect-on-nk-cell-subsets
#9
REVIEW
Emily M Mace, Jordan S Orange
Human NK cells play critical roles in human host defense, particularly the control of viral infection and malignancy, and patients with congenital immunodeficiency affecting NK cell function or number can suffer from severe illness. The importance of NK cell function is particularly underscored in patients with primary immunodeficiency in which NK cells are the primary or sole affected population (NK cell deficiency, NKD). While NKD may lead to the absence of NK cells, we are also gaining an increasing appreciation of the effect that NKD may have on the generation of specific NK cell subsets...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27987519/-autoimmune-disorder-secondary-to-digeorge-syndrome-a-long-term-follow-up-case-report-and-literature-review
#10
Y Xie, J Q Guo, Y Hua, W H Zhao, Q Sun, X T Lu
DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. The patient was a female born with congenital heart disease, facial abnormalities and cleft palate. When the patient went to school, she had learning difficulty and had problems in communication and personal social behavior...
December 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/27960205/the-role-of-streptococcus-pneumoniae-in-community-acquired-pneumonia
#11
Charles Feldman, Ronald Anderson
Streptococcus pneumoniae (the pneumococcus) remains one of the most common causes of bacterial community-acquired pneumonia (CAP), encompassing infections mild enough to be treated on an outpatient basis, as well as those requiring hospital care, or even intensive care unit admission. This microorganism is associated with a significant burden of disease, causing substantial morbidity and mortality worldwide, and generating considerable health-care costs. The reason that pneumococcal CAP remains such a common cause of disease relates to the presence of several risk factors for this infection in patients throughout the world...
December 2016: Seminars in Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27923951/maternal-antibody-responses-and-nonprimary-congenital-cytomegalovirus-infection-of-hiv-1-exposed-infants
#12
Kristy M Bialas, Daniel Westreich, Eduardo Cisneros de la Rosa, Cody S Nelson, Lawrence M Kauvar, Tong-Ming Fu, Sallie R Permar
Risk of congenital cytomegalovirus (cCMV) transmission is highly dependent on the presence of preexisting maternal immunity, with the lowest rates observed in CMV-seroimmune populations. Among infants of CMV-seroimmune women, those who are exposed to human immunodeficiency virus (HIV) have an increased risk of acquiring cCMV infection as compared to HIV-unexposed infants. To better understand the risk factors of nonprimary cCMV transmission in HIV-infected women, we performed a case-control study in which CMV-specific plasma antibody responses from 19 CMV-transmitting and 57 CMV-nontransmitting women with chronic CMV/HIV coinfection were evaluated for the ability to predict the risk of cCMV infection...
December 15, 2016: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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