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https://www.readbyqxmd.com/read/28231257/targeted-sequencing-identifies-a-novel-sh2d1a-pathogenic-variant-in-a-chinese-family-carrier-screening-and-prenatal-genetic-testing
#1
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family...
2017: PloS One
https://www.readbyqxmd.com/read/28230570/refractory-pure-red-cell-aplasia-manifesting-as-deficiency-of-adenosine-deaminase-2
#2
Hasan Hashem, Rachel Egler, Jignesh Dalal
Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye syndrome chromosome region, candidate 1) gene encodes adenosine deaminase 2 (ADA2) protein. Patients who carry CECR1 mutation(s) suffer from deficiency of ADA2 (DADA2). Here, we describe a patient with pure red cell aplasia discovered to have DADA2...
February 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28224361/modeling-strategy-to-identify-patients-with-primary-immunodeficiency-utilizing-risk-management-and-outcome-measurement
#3
Vicki Modell, Jessica Quinn, Grant Ginsberg, Ron Gladue, Jordan Orange, Fred Modell
This study seeks to generate analytic insights into risk management and probability of an identifiable primary immunodeficiency defect. The Jeffrey Modell Centers Network database, Jeffrey Modell Foundation's 10 Warning Signs, the 4 Stages of Testing Algorithm, physician-reported clinical outcomes, programs of physician education and public awareness, the SPIRIT® Analyzer, and newborn screening, taken together, generates P values of less than 0.05%. This indicates that the data results do not occur by chance, and that there is a better than 95% probability that the data are valid...
February 21, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#4
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28219603/acute-rejection-of-a-kidney-transplant-in-a-patient-with-common-variable-immunodeficiency-a-case-report
#5
O Al Nimri, A Rajput, E Martinez, J M Fahrenholz, P Paueksakon, A Langone, B P Concepcion
Common variable immunodeficiency is a primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. We report a case of a 44-year-old male patient with end-stage renal disease and an established diagnosis of common variable immunodeficiency who underwent a living unrelated kidney transplant. He remained nearly infection free on maintenance immunoglobulin replacement. However, his posttransplant course was complicated by acute rejection that ultimately led to allograft loss...
March 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28214184/-systemic-lupus-erythematosus-and-lymphopenia-clinical-and-pathophysiological-features
#6
M Martin, A Guffroy, X Argemi, T Martin
Lymphopenia is frequent in systemic lupus erythematosus (SLE) and profound (<500/mm(3)) in 10% of cases. T lymphocytes, especially CD4+, are more affected than B cells. The pathophysiological mechanisms are complex, involving lymphocytotoxic antibodies, excess of apoptosis, increased susceptibility of T cells to complement mediated cytolysis, as well as lymphopoiesis impairment and lymphocyte sequestration. Lymphopenia in SLE is independent from other cytopenia and immunosuppressive drug regiments, and associated with disease activity, risk of flare and damage scores...
February 14, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28197791/clinical-manifestations-and-genetic-analysis-of-17-patients-with-autosomal-dominant-hyper-ige-syndrome-in-mainland-china-new-reports-and-a-literature-review
#7
Jing Wu, Ji Chen, Zhi-Qing Tian, Hao Zhang, Ruo-Lan Gong, Tong-Xin Chen, Li Hong
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). Signal transducer and activator of transcription 3 (STAT3) gene mutation is found to cause AD-HIES. The distribution of AD-HIES patients with STAT3 deficiency in the Chinese population is not clear. Herein, we retrospectively report 17 AD-HIES patients with STAT3 deficiency and demonstrate their clinical, immunological, and genetic features. METHODS: Patients' clinical data were collected from their medical records...
February 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28197149/treatment-of-infantile-inflammatory-bowel-disease-and-autoimmunity-by-allogeneic-stem-cell-transplantation-in-lps-responsive-beige-like-anchor-deficiency
#8
Shahrzad Bakhtiar, Laura Gámez-Díaz, Andrea Jarisch, Jan Soerensen, Bodo Grimbacher, Bernd Belohradsky, Klaus-Michael Keller, Christoph Rietschel, Thomas Klingebiel, Sibylle Koletzko, Michael H Albert, Peter Bader
Inflammatory bowel disease (IBD) in young children can be a clinical manifestation of various primary immunodeficiency syndromes. Poor clinical outcome is associated with poor quality of life and high morbidity from the complications of prolonged immunosuppressive treatment and malabsorption. In 2012, mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) gene were identified as the cause of an autoimmunity and immunodeficiency syndrome. Since then, several LRBA-deficient patients have been reported with a broad spectrum of clinical manifestations without reliable predictive prognostic markers...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28192236/diagnosis-of-primary-antibody-and-complement-immunodeficiencies-in-young-adults-after-a-first-invasive-bacterial-infection
#9
Sébastien Sanges, Frédéric Wallet, Nicolas Blondiaux, Didier Theis, Isabelle Verin, Anne Vachée, Rodrigue Dessein, Karine Faure, Nathalie Viget, Eric Senneville, Olivier Leroy, Fleur Maury, Nicolas Just, Julien Poissy, Daniel Mathieu, Anne Prévotat, Cécile Chenivesse, Arnaud Scherpereel, Grégoire Smith, Benjamin Lopez, Jérémie Rosain, Véronique Fremeaux-Bacchi, Eric Hachulla, Pierre-Yves Hatron, Mathilde Bahuaud, Frédéric Batteux, David Launay, Myriam Labalette, Guillaume Lefèvre
OBJECTIVES: Screening for primary immunodeficiencies (PIDs) in adults is recommended after two severe bacterial infections. We aimed to evaluate if screening should be performed after the first invasive infection in young adults. METHODS: Eligible patients were retrospectively identified using hospital discharge and bacteriology databases in 3 centers during a 3-year period. Eighteen to forty year-old patients were included if they had experienced an invasive infection with encapsulated bacteria commonly encountered in PIDs (Streptococcus pneumoniae (SP), Neisseria meningitidis (NM), Neisseria gonorrhoeae (NG), Haemophilus influenzae (HI) or group A Streptococcus (GAS))...
February 10, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28192146/autoimmune-and-inflammatory-manifestations-occur-frequently-in-primary-immunodeficiencies
#10
Alain Fischer, Johan Provot, Jean-Philippe Jais, Alexandre Alcais, Nizar Mahlaoui
BACKGROUND: Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerably increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases including allergy, autoimmunity and inflammation. OBJECTIVE: We aimed at determining the incidence of autoimmunity and inflammation in PID patients. METHODS: We have retrospectively screen 2183 consecutive cases of PID in the French CEREDIH registry for the occurrence of autoimmunity and inflammation...
February 9, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28188711/-clinical-symptoms-in-iga-deficiency
#11
Flavio Augusto De Oliveira-Serra, Tainá Mosca, Maria da Conceição Santos de Menezes, Wilma Carvalho-Neves Forte
BACKGROUND: IgA deficiency is the most common primary immunodeficiency. Early diagnosis and clinical follow-up may improve the quality of life of patients with IgA deficiency. To this end, IgA deficiency should be further studied and better understood on its clinical manifestations. OBJECTIVE: To determine IgA deficiency clinical manifestations. METHODS: Cross-sectional, retrospective, exploratory study, where the medical records of 39 patients with IgA deficiency were analyzed...
January 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/28167755/conformational-disruption-of-pi3k%C3%AE-regulation-by-immunodeficiency-mutations-in-pik3cd-and-pik3r1
#12
Gillian L Dornan, Braden D Siempelkamp, Meredith L Jenkins, Oscar Vadas, Carrie L Lucas, John E Burke
Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by activating mutations in either the leukocyte-restricted p110δ catalytic (PIK3CD) subunit or the ubiquitously expressed p85α regulatory (PIK3R1) subunit of class IA phosphoinositide 3-kinases (PI3Ks). There are two classes of APDS: APDS1 that arises from p110δ mutations that are analogous to oncogenic mutations found in the broadly expressed p110α subunit and APDS2 that occurs from a splice mutation resulting in p85α with a central deletion (Δ434-475)...
February 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28167354/coronary-atherosclerosis-and-dilation-in-hyper-ige-syndrome-patients-depiction-by-magnetic-resonance-vessel-wall-imaging-and-pathological-correlation
#13
Khaled Z Abd-Elmoniem, Nadine Ramos, Saami K Yazdani, Ahmed M Ghanem, Steven M Holland, Alexandra F Freeman, Ahmed M Gharib
BACKGROUND AND AIMS: Autosomal dominant hyper-IgE (AD-HIES) is a primary immunodeficiency caused by mutations in STAT3. Elevated levels of IgE, an ineffective immune response, connective tissue abnormalities, and coronary arterial dilation and tortuosity characterize AD-HIES. To date, coronary artery evaluation in AD-HIES patients has been limited to lumenography measurements. Direct in vivo coronary vessel wall (VW) imaging may allow for better interrogation of coronary vessel abnormalities...
January 19, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28163721/inflammatory-duodenal-polyposis-associated-with-primary-immunodeficiency-disease-a-novel-case-report
#14
Irfan Ali Shera, Sheikh Mudassir Khurshid, Mohd Shafi Bhat
Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia. Duodenal polyps are a rare entity; however, due to wide use of esophagogastroduodenoscopy, incidental diagnosis of duodenal polyps appears to be increasing. Although inflammatory duodenal polyposis has been reported in the literature, its association with common variable immunodeficiency has not been reported till date to the best of our knowledge...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28162909/biallelic-irf8-mutations-causing-nk-cell-deficiency
#15
Alejandro López-Soto, Seila Lorenzo-Herrero, Segundo Gonzalez
Human primary immunodeficiencies result in an exacerbated susceptibility to contracting infectious diseases. Recent work by Mace et al., published in the Journal of Clinical Investigation, unveils a novel genetic cause for the development of familial natural killer (NK) cell deficiency: a biallelic compound heterozygous mutation in IRF8, which leads to impaired NK cell development and cytotoxic activity.
February 2, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28162005/the-clinical-significance-of-complete-class-switching-defect-in-ataxia-telangiectasia-patients
#16
Saleh Ghiasy, Leila Parvaneh, Gholamreza Azizi, Ghazal Sadri, Majid Zaki Dizaji, Hassan Abolhassani, Asghar Aghamohammadi
OBJECTIVES: Ataxia telangiectasia (AT) is a primary immunodeficiency associated with recurrent infections. We aimed to investigate clinical and immunological classification in AT patients who suffer from a different spectrum of humoral immune defects. METHODS: AT patients were categorized according to the ability of class switching and patients with hyper IgM (HIgM) profile were defined as class switching defect (CSD). RESULTS: Serum immunoglobulin profile in 66 AT patients showed normal immunoglobulin level (22...
February 4, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28161407/a-novel-mutation-in-tap1-gene-leading-to-mhc-class-i-deficiency-report-of-two-cases-and-review-of-the-literature
#17
Damla Hanalioglu, Deniz Cagdas Ayvaz, Tuba Turul Ozgur, Mirjam van der Burg, Ozden Sanal, Ilhan Tezcan
Major histocompatibility complex (MHC) class I deficiency syndrome is a rare primary immunodeficiency caused by mutations in the peptide transporter complex associated with antigen presentation (TAP) gene which plays a crucial role in intracellular peptide antigen presentation. A few cases have been reported to date. Recurrent sinopulmonary infections and skin ulcers are main characteristics of the syndrome. Here we report two siblings diagnosed with TAP1 deficiency syndrome associated only with recurrent sinopulmonary infections with the description of a novel mutation leading to a premature stop codon in TAP1 gene and review of the relevant literature...
February 1, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28161281/bacillus-calmette-gu%C3%A3-rin-vaccine-complications-in-iranian-children-at-a-university-hospital
#18
M R Bolursaz, F Lotfian, A A Velayati
BACKGROUND: Although the BCG vaccine remains the only available vaccine, a number of complications from local to systemic adverse reactions can occur. OBJECTIVE: The aim of the study was to review the clinical features and treatment of Bacillus Calmette-Guérin (BCG) complications in children. METHODS: Children with clinical and laboratory findings compatible with a diagnosis of local complication and disseminated disease at Masih Daneshvari Medical Center were enrolled from March 2013 to September 2015...
February 1, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28161232/-correctly-address-the-cause-of-hemophagocytic-lymphohistiocytosis
#19
M Penel-Page, B Ben Said, A Phan, L Hees, C Hartmann-Merlin, S Girard, Y Gillet, A Belot
Hemophagocytic lymphohistiocytosis (HLH) is a rare and severe syndrome usually associated with a cytotoxicity deficiency, which leads to an excess of immune response driven by activated macrophages and cytotoxic T cells. In children, HLH can be genetic, as part of a familial lymphohistiocytosis, or secondary: the most frequent causes are systemic-onset juvenile idiopathic arthritis, hematological malignancies, and severe infections, especially with Ebstein-Barr virus or leishmaniosis. We report on the case of a 3-year-old girl with no past medical history, who presented inaugural Pseudomonas aeruginosa maxillary osteitis, with secondary HLH...
February 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28160239/impact-of-site-of-care-on-infection-rates-among-patients-with-primary-immunodeficiency-diseases-receiving-intravenous-immunoglobulin-therapy
#20
Richard L Wasserman, Diane Ito, Yan Xiong, Xiaolan Ye, Patrick Bonnet, Josephine Li-McLeod
PURPOSE: Patients with primary immunodeficiency diseases (PIDD) are at increased risk of infection and may require lifelong immunoglobulin G (IgG) replacement. Infection incidence rates were determined for patients with PIDD receiving intravenously administered IgG (IGIV) in a home or hospital outpatient infusion center (HOIC). METHODS: Data were extracted from a large, US-based, employer-sponsored administrative database. Patients were eligible for analysis if they had ≥1 inpatient or emergency room claim or ≥2 outpatient claims with a PIDD diagnosis between January 2002 and March 2013, 12 months of continuous health plan enrollment prior to index date (i...
February 3, 2017: Journal of Clinical Immunology
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