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https://www.readbyqxmd.com/read/28109013/investigation-of-genetic-defects-in-severe-combined-immunodeficiency-patients-from-turkey-by-targeted-sequencing
#1
Baran Erman, Ivan Bilic, Tatjana Hirschmugl, Elisabeth Salzer, Heidrun Boztug, Özden Sanal, Deniz Çağdaş Ayvaz, Ilhan Tezcan, Kaan Boztug
Primary immunodeficiencies (PIDs) represent a large group of disorders with an increased susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) with marked T-cell lymphopenia. Investigation of the genetic etiology using classical Sanger sequencing is associated with considerable diagnostic delay. We here established a custom-designed, next generation sequencing-based panel to efficiently identify disease-causing genetic defects in PID patients and applied this method in SCID patients of Turkish origin with previously undefined genetic etiology...
January 21, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28108590/human-immunity-against-ebv-lessons-from-the-clinic
#2
REVIEW
Stuart G Tangye, Umaimainthan Palendira, Emily S J Edwards
The mammalian immune system has evolved over many millennia to be best equipped to protect the host from pathogen infection. In many cases, host and pathogen have coevolved, each acquiring sophisticated ways of inducing or protecting from disease. Epstein-Barr virus (EBV) is a human herpes virus that infects >90% of individuals. Despite its ubiquity, infection by EBV is often subclinical; this invariably reflects the necessity of the virus to preserve its host, balanced with sophisticated host immune mechanisms that maintain viral latency...
January 20, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28096536/germline-ikaros-mutation-associated-with-primary-immunodeficiency-that-progressed-to-t-cell-acute-lymphoblastic-leukemia
#3
N Yoshida, H Sakaguchi, H Muramatsu, Y Okuno, C Song, S Dovat, A Shimada, M Ozeki, H Ohnishi, T Teramoto, T Fukao, N Kondo, Y Takahashi, K Matsumoto, K Kato, S Kojima
Leukemia accepted article preview online, 18 January 2017. doi:10.1038/leu.2017.25.
January 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28079912/intravenous-immunoglobulin-in-the-treatment-of-primary-immunodeficiency-diseases
#4
Deirdre De Ranieri, Nana Sarkoah Fenny
Intravenous immunoglobulin (IVIG) has been used as antibody replacement therapy in primary immunodeficiency diseases (PIDDs) for more than 50 years. Its role as a therapeutic agent has expanded over the past couple of decades as its anti-inflammatory and immune-modulatory mechanisms of action have been elucidated. It is now used "off-label" to treat other autoimmune diseases. This article focuses on the role of IVIG in the treatment of PIDDs characterized by absent or deficient antibody production. Replacement doses are given on a monthly basis in these conditions as a prophylactic measure to prevent acute and serious bacterial infections...
January 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28078662/low-immunoglobulin-e-flags-two-distinct-types-of-immune-dysregulation
#5
M Elkuch, V Greiff, C T Berger, M Bouchenaki, T Daikeler, A Bircher, A A Navarini, I Heijnen, M Recher
During the last two decades, hyper-immunoglobulin (Ig)E syndromes have been characterized clinically and molecularly in patients with genetically determined primary immunodeficiencies. However, the detection of low IgE levels, defined here as below detection limit in the routine clinical immunology laboratory, has received little attention. We analysed the association of serum IgA, IgM and IgG levels (including IgG subclasses) with low, normal or high serum IgE levels in patients evaluated in a single-centre out-patient immunodeficiency and allergy clinic...
January 11, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28072956/-clinical-and-immunological-analysis-of-the-patient-with-autoimmunity-due-to-germline-stat3-gain-of-function-mutation
#6
Y Ding, Y Zhang, Y P Wang, H Y Zhao, X M Chen, X H Xue, X M Bai, Y F An, Z Y Zhang, X M Tang, X D Zhao
Objective: To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3. Method: A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children's Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of immunophenotyping and exome sequencing were analyzed retrospectively and related literature was reviewed...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28072951/-futher-strengthen-the-immunoglobulin-g-replacement-therapy-of-primary-immunodeficiency-diseases
#7
H W Mao, X D Zhao
No abstract text is available yet for this article.
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28068510/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-stem-cell-transplantation-hct-for-severe-combined-immunodeficiency-patients-a-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international
#8
REVIEW
Jennifer Heimall, Jennifer Puck, Rebecca Buckley, Thomas A Fleisher, Andrew R Gennery, Benedicte Neven, Mary Slatter, Elie Haddad, Luigi D Notarangelo, K Scott Baker, Andrew C Dietz, Christine Duncan, Michael A Pulsipher, Mort J Cowan
Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. Historically, SCID was diagnosed in infants who presented with opportunistic infections within the first year of life. With newborn screening (NBS) for SCID in most of the United States, the majority of infants with SCID are now diagnosed and treated in the first 3.5 months of life; however, in the rest of the world, the lack of NBS means that most infants with SCID still present with infections...
January 6, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28050511/oral-manifestations-of-job-s-syndrome-in-a-paediatric-dental-patient-a-case-report
#9
Jeswin James, Anupam Kumar Thekkeveetil, Kannan Vadakkepurayil
Job's syndrome or Hyperimmunoglobulin E Syndrome (HIES) is a rare primary immunodeficiency with marked increase in serum immunoglobulin E (IgE) levels and eczematous dermatitis. Individuals with HIES share characteristic facial features, with many oral manifestations like retained deciduous teeth, fissured tongue, missing permanent tooth buds, recurrent oral candidiasis, oral mucosal and gingival lesions. Two forms of disease have been identified based on the defective gene as autosomal dominant form and autosomal recessive form...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28041678/update-on-the-use-of-immunoglobulin-in-human-disease-a%C3%A2-review-of-evidence
#10
Elena E Perez, Jordan S Orange, Francisco Bonilla, Javier Chinen, Ivan K Chinn, Morna Dorsey, Yehia El-Gamal, Terry O Harville, Elham Hossny, Bruce Mazer, Robert Nelson, Elizabeth Secord, Stanley C Jordan, E Richard Stiehm, Ashley A Vo, Mark Ballow
Human immunoglobulin preparations for intravenous or subcutaneous administration are the cornerstone of treatment in patients with primary immunodeficiency diseases affecting the humoral immune system. Intravenous preparations have a number of important uses in the treatment of other diseases in humans as well, some for which acceptable treatment alternatives do not exist. We provide an update of the evidence-based guideline on immunoglobulin therapy, last published in 2006. Given the potential risks and inherent scarcity of human immunoglobulin, careful consideration of its indications and administration is warranted...
December 24, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28030522/prevalence-of-cryptosporidium-carriage-and-disease-in-children-with-primary-immune-deficiencies-undergoing-hematopoietic-stem-cell-transplant-in-northern-europe
#11
Angharad P Davies, Mary Slatter, Andrew R Gennery, Guy Robinson, Nigel Crouch, Kristin Elwin, Stephen J Hadfield, Andrew J Cant, E Graham Davies, Rachel M Chalmers
A prospective cohort study of children with primary immunodeficiencies undergoing hematopoietic stem cell transplant (HSCT) in the UK investigated the extent and significance of Cryptosporidium carriage in this high-risk group. Three of 42 children recruited were infected with Cryptosporidium, a lower proportion than previously described. One had serious disease. The underlying immunodeficiency likely had a bearing on the clinical presentation and possible outcome of infection.
December 27, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28018447/targeted-busulfan-and-fludarabine-based-conditioning-for-bone-marrow-transplantation-in-chronic-granulomatous-disease
#12
Hee Young Ju, Hyoung Jin Kang, Che Ry Hong, Ji Won Lee, Hyery Kim, Sang Hoon Song, Kyung-Sang Yu, In-Jin Jang, June Dong Park, Kyung Duk Park, Hee Young Shin, Joong-Gon Kim, Hyo Seop Ahn
Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by impaired phagocytic function. Hematopoietic stem cell transplantation (HSCT) is a definitive cure for CGD; however, the use of HSCT is limited because of associated problems, including transplantation-related mortality and engraftment failure. We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and fludarabine reduced-toxicity myeloablative conditioning. Intravenous busulfan was administered once daily for 4 consecutive days (days -8 to -5), and the target area under the curve was 75,000 µg·hr/L...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28013299/autoimmunity-in-primary-antibody-deficiencies
#13
Gholamreza Azizi, Moslem Ahmadi, Hassan Abolhassani, Reza Yazdani, Hamed Mohammadi, Abbas Mirshafiey, Nima Rezaei, Asghar Aghamohammadi
Primary antibody deficiencies (PADs) are the most common inherited primary immunodeficiencies in humans, characterized by hypogammaglobulinemia, an inability to produce specific antibodies, and recurrent infections mainly caused by encapsulated bacteria. However, it has been shown that inflammatory disorders, granulomatous lesions, lymphoproliferative diseases, cancer, and autoimmunity are associated with the various types of PAD. Both systemic and organ-specific autoimmune diseases could be attributed to B-cell defects in PAD patients...
2016: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28011864/combined-immunodeficiency-and-epstein-barr-virus-induced-b-cell-malignancy-in-humans-with-inherited-cd70-deficiency
#14
Hassan Abolhassani, Emily S J Edwards, Aydan Ikinciogullari, Huie Jing, Stephan Borte, Marcus Buggert, Likun Du, Mami Matsuda-Lennikov, Rosa Romano, Rozina Caridha, Sangeeta Bade, Yu Zhang, Juliet Frederiksen, Mingyan Fang, Sevgi Kostel Bal, Sule Haskologlu, Figen Dogu, Nurdan Tacyildiz, Helen F Matthews, Joshua J McElwee, Emma Gostick, David A Price, Umaimainthan Palendira, Asghar Aghamohammadi, Bertrand Boisson, Nima Rezaei, Annika C Karlsson, Michael J Lenardo, Jean-Laurent Casanova, Lennart Hammarström, Stuart G Tangye, Helen C Su, Qiang Pan-Hammarström
In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)-related diseases. Three patients presented with EBV-associated Hodgkin's lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth had viral encephalitis during infancy. Homozygous frameshift or in-frame deletions in CD70 in these patients abolished either CD70 surface expression or binding to its cognate receptor CD27...
January 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28008925/biallelic-jak1-mutations-in-immunodeficient-patient-with-mycobacterial-infection
#15
Davide Eletto, Siobhan O Burns, Ivan Angulo, Vincent Plagnol, Kimberly C Gilmour, Frances Henriquez, James Curtis, Miguel Gaspar, Karolin Nowak, Vanessa Daza-Cajigal, Dinakantha Kumararatne, Rainer Doffinger, Adrian J Thrasher, Sergey Nejentsev
Mutations in genes encoding components of the immune system cause primary immunodeficiencies. Here, we study a patient with recurrent atypical mycobacterial infection and early-onset metastatic bladder carcinoma. Exome sequencing identified two homozygous missense germline mutations, P733L and P832S, in the JAK1 protein that mediates signalling from multiple cytokine receptors. Cells from this patient exhibit reduced JAK1 and STAT phosphorylation following cytokine stimulations, reduced induction of expression of interferon-regulated genes and dysregulated cytokine production; which are indicative of signalling defects in multiple immune response pathways including Interferon-γ production...
December 23, 2016: Nature Communications
https://www.readbyqxmd.com/read/28005038/-common-variable-immunodeficiency-in-adults
#16
N V Shabashova, L V Filippova, A E Uchevatkina, E V Frolova
The paper analyzes 7 cases of common variable immune deficiency (CVID), a primary immunodeficiency disease. All the cases were detected in outpatients over the age of 40 years. The diagnosis was based on their history data and general clinical findings with due regard for the results of previously conducted functional studies, expert opinions, and the results of immunological studies including the quantitative and functional indices of T and B cells, phagocytes and the levels of immunoglobulins. The analysis showed that the early signs of impaired immunity in all the patients were seen by physicians of various specialties in both outpatient and inpatient settings...
2016: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28000208/when-to-initiate-immunoglobulin-replacement-therapy-igrt-in-antibody-deficiency-a-practical-approach
#17
REVIEW
Stephen Jolles, Helen Chapel, Jiri Litzman
Primary antibody deficiencies (PAD) constitute the majority of all primary immunodeficiency diseases (PID) and immunoglobulin replacement forms the mainstay of therapy for many patients in this category. Secondary antibody deficiencies (SAD) represents a larger and expanding number of patients resulting from the use of a wide range of immunosuppressive therapies, in particular those targeting B cells, and may also result from renal or gastrointestinal immunoglobulin losses. While there are clear similarities between primary and secondary antibody deficiencies, there are also significant differences...
December 21, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27996282/a-novel-mutation-of-was-gene-in-a-boy-with-mycobacterium-bovis-infection-at-spleen
#18
Punchama Pacharn, Boonchai Boonyawat, Niramol Tantemsapya, Nualanong Visitsunthorn, Orathai Jirapongsananuruk
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder caused by mutations of the gene encoding WAS protein (WASp). A scoring system has been used to grade severity of the disease. However, the phenotype of the disease may progress over time, especially in children younger than 2 years of age. Here, we report a male child who presented with X-linked thrombocytopenia (XLT). Mutation analysis revealed a novel hemizygous 13-bp deletion (c.181_193delGCTGAGCACTGGA) on exon 2 of the WAS gene. This frameshift mutation resulted in a premature terminating codon at position 71 (p...
December 12, 2016: Asian Pacific Journal of Allergy and Immunology
https://www.readbyqxmd.com/read/27994588/genetic-causes-of-human-nk-cell-deficiency-and-their-effect-on-nk-cell-subsets
#19
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/27987421/successful-oral-treatment-of-ganciclovir-resistant-cytomegalovirus-with-maribavir-in-the-context-of-primary-immunodeficiency-first-case-report-and-review
#20
Philip D Bright, Mark Gompels, Matthew Donati, Sarah Johnston
No abstract text is available yet for this article.
December 12, 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
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