keyword
MENU ▼
Read by QxMD icon Read
search

"Primary immunodeficiency"

keyword
https://www.readbyqxmd.com/read/27896807/fdg-pet-ct-imaging-of-therapeutic-response-in-granulomatous-lymphocytic-interstitial-lung-disease-glild-in-common-variable-immunodeficiency-cvid
#1
S Jolles, E Carne, M Brouns, T El-Shanawany, P Williams, C Marshall, P Fielding
Common variable immunodeficiency (CVID) is the most common severe adult primary immunodeficiency and is characterized by a failure to produce antibodies leading to recurrent predominantly sinopulmonary infections. Improvements in the prevention and treatment of infection with immunoglobulin replacement and antibiotics have resulted in malignancy, autoimmune, inflammatory and lymphoproliferative disorders emerging as major clinical challenges in the management of patients who have CVID. In a proportion of CVID patients, inflammation manifests as granulomas that frequently involve the lungs, lymph nodes, spleen and liver and may affect almost any organ...
November 28, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27896283/a-potential-founder-variant-in-carmil2-rltpr-in-three-norwegian-families-with-warts-molluscum-contagiosum-and-t-cell-dysfunction
#2
Hanne S Sorte, Liv T Osnes, Børre Fevang, Pål Aukrust, Hans C Erichsen, Paul H Backe, Tore G Abrahamsen, Ole B Kittang, Torstein Øverland, Shalini N Jhangiani, Donna M Muzny, Magnus D Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H C Akdemir, Richard A Gibbs, Olaug K Rødningen, Robert Lyle, James R Lupski, Asbjørg Stray-Pedersen
BACKGROUND: Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelming, disseminated and/or persistent, and presenting together with other immunological features, a primary immunodeficiency disease (PIDD) may be suspected. METHODS AND RESULTS: The four patients were exome sequenced as part of a larger study for detecting genetic causes of primary immunodeficiencies...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27894450/immunodeficiency-presenting-as-an-undiagnosed-disease
#3
REVIEW
John M Routes, James W Verbsky
Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more autoimmune disorders, unusual severe atopic disease, or a combination of these disorders should lead a clinician to consider primary immunodeficiency disorders.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27893166/the-association-between-parental-consanguinity-and-primary-immunodeficiency-diseases-a-systematic-review-and-meta-analysis
#4
Hasti Hadizadeh, M Masoud Salehi, Shabnam Khoramnejad, Kia Vosoughi, Nima Rezaei
BACKGROUND: We aimed to establish the prevalence of parental consanguinity among patients with primary immunodeficiency diseases (PID), and compare the prevalence with the general population. METHOD: We searched PubMed, EMBASE, and Scopus for studies mentioning parental consanguinity prevalence in PID patients and calculated the prevalence odds ratio (POR) of parental consanguinity in each study, compared to a matched healthy population. RESULTS: We identified 21 eligible studies with a total population of 18091 accounting for sample overlap...
November 28, 2016: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/27889361/adult-bronchiectasis-patients-a-first-look-at-the-united-states-bronchiectasis-research-registry
#5
Timothy R Aksamit, Anne E O'Donnell, Alan Barker, Kenneth N Olivier, Kevin L Winthrop, M Leigh Anne Daniels, Margaret Johnson, Edward Eden, David Griffith, Michael Knowles, Mark Metersky, Matthias Salathe, Byron Thomashow, Gregory Tino, Gerard Turino, Betsy Carretta, Charles L Daley
OBJECTIVE: We sought to describe the characteristics of adult bronchiectasis patients enrolled in the United States Bronchiectasis Research Registry (BRR). METHODS: The BRR is a database of non-cystic fibrosis bronchiectasis (NCFB) patients enrolled at 13 sites within the United States. Baseline demographic, spirometric, imaging, microbiologic, and therapeutic data were entered into a central web-based database. Patients were subsequently analyzed by the presence NTM...
November 23, 2016: Chest
https://www.readbyqxmd.com/read/27889323/-primary-immunodeficiency-and-autoimmunity
#6
A Guffroy, V Gies, M Martin, A-S Korganow
Many evidences highlight that immunodeficiency and autoimmunity are two sides of a same coin. Primary immune deficiencies (PIDs), which are rare mono- or multigenic defects of innate or adaptative immunity, frequently associate with autoimmunity. Analyses of single-gene defects in immune pathways of families with PIDs, by new tools of molecular biology (next genome sequencing technologies), allowed a better understanding of the ways that could both drive immune defect with immune deficiency and autoimmunity...
November 23, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27888368/primary-immunodeficiency-classification-on-smartphone
#7
Leïla Jeddane, Hind Ouair, Ibtihal Benhsaien, Jalila El Bakkouri, Ahmed Aziz Bousfiha
No abstract text is available yet for this article.
November 25, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27885760/haploidentical-hematopoietic-stem-cell-transplantation-for-a-case-with-x-linked-chronic-granulomatous-disease
#8
Ling Zhou, Lu-Jia Dong, Zhi-Yong Gao, Xin-Jian Yu, Dao-Pei Lu
CGD is a rare primary immunodeficiency with high mortality rates when treated conventionally, especially for the X-chromosome-linked form. HSCT is the only curative therapy for CGD; however, haploidentical transplantation in CGD is rare. Here, we report a case of X-linked CGD treated successfully by haploidentical HSCT. The patient showed a positive result with full donor chimerism, good quality of life, and the absence of recurrent infectious diseases at follow-up (68 months). Thus, haploidentical HSCT may serve as an acceptable treatment approach for patients who have CGD, but no HLA-matched related or unrelated donor...
November 25, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27873456/visceral-leishmaniasis-in-two-patients-with-il-12p40-and-il-12r%C3%AE-1-deficiencies
#9
Nima Parvaneh, Vincent Barlogis, Abdolvahab Alborzi, Caroline Deswarte, Stéphanie Boisson-Dupuis, Mélanie Migaud, Catherine Farnaria, Janet Markle, Leila Parvaneh, Jean-Laurent Casanova, Jacinta Bustamante
Mutations of the IL12B and IL12RB1 genes underlie the development of IL-12 p40 and IL-12Rβ1 deficiencies, respectively, both of which cause predisposition to infection with weakly virulent mycobacteria and Salmonella. Infections with other intramacrophagic organisms have only been rarely observed. We identified two patients with visceral leishmaniasis who had autosomal recessive IL-12 p40 and IL-12Rβ1 deficiencies, respectively. This finding demonstrates the importance of IFN-γ immunity in the control of leishmaniasis...
November 22, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27873163/an-update-on-the-use-of-immunomodulators-in-primary-immunodeficiencies
#10
REVIEW
Pandiarajan Vignesh, Amit Rawat, Surjit Singh
The genomic revolution in the past decade fuelled by breathtaking advances in sequencing technologies has defined several new genetic diseases of the immune system. Many of these newly characterized diseases are a result of defects in genes involved in immune regulation. The discovery of these diseases has opened a vista of new therapeutic possibilities. Immunomodulatory agents, a hitherto unexplored therapeutic option in primary immunodeficiency diseases have been tried in a host of these newly described maladies...
November 21, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27873105/newborn-screening-for-severe-primary-immunodeficiency-diseases-in-sweden-a-2-year-pilot-trec-and-krec-screening-study
#11
Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Rolf H Zetterström, Jovanka King, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated...
November 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27872624/diagnostics-of-primary-immunodeficiencies-through-next-generation-sequencing
#12
Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G Farrow, Isabelle Thiffault, Carol J Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata
BACKGROUND: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more than 250 well-defined forms. Next-generation sequencing (NGS) technologies and proper filtering strategies greatly contributed to this rapid evolution, providing the possibility to rapidly and simultaneously analyze large numbers of genes or the whole exome. OBJECTIVE: To evaluate the role of targeted NGS and whole exome sequencing (WES) in the diagnosis of a case series, characterized by complex or atypical clinical features suggesting a PID, difficult to diagnose using the current diagnostic procedures...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27869441/immunology-update-primary-immunodeficiency-diseases
#13
S Paul Starr
There are 264 primary immunodeficiencies (PIDs), most of which are rare. They are caused by complement deficiencies, defects in phagocyte function, impaired T-cell function, and/or impaired B-cell function with antibody deficiencies. Most patients with PIDs will present, at varying ages, with frequent infections. These infections can be common respiratory tract infections such as otitis media or pneumonia, or they can be unusual bacterial, fungal, or parasitic infections. Neonatal screening for severe combined immunodeficiency syndrome, one of the most common and serious PIDs, is now performed in most US states, but many PIDs manifest and are detected after birth...
November 2016: FP Essentials
https://www.readbyqxmd.com/read/27869430/-sepsis-due-to-pseudomona-as-a-debut-of-a-primary-immunodeficiency-in-a-child
#14
M Cristina Vera Sáez-Benito, Marta López Úbeda, Paula Madurga Revilla, Antonio de Arriba Muñoz, Matilde Bustillo Alonso, Carmen Rodríguez-Vigil Iturrate
X-linked agammaglobulinemia is a primary humoral immunodeficiency. It is a recessive X-linked disorder characterized by low or absent circulating mature B cells, hypo/agammaglobulinemia and no humoral response to immunizations due to mutations along chromosome X. It is characterized by severe, recurrent and difficult treatment infections. It is diagnosed in the first 6 months of life in children; the only sign of alarm is the absent or decreased size of tonsils and lymph nodes, but it is not always present...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27865245/adolescent-with-recurrent-tuberculosis-can-it-be-chronic-granulomatous-disease
#15
Yashashree Gupta, Ira Shah
Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder with recurrent bacterial and fungal infections like Staphylococcus aureus, Nocardia spp, Serratia marcescens, Burkholderia cepacia, Salmonella spp. and Aspergillus species. We present a 13-year-old male child who had 3 episodes of tuberculosis (TB) at 5 years, 8 years and 13 years of age, respectively, with no other intercurrent infections and who was diagnosed as CGD at the age of 13 years. This case highlights the possibility of phenotypic variations of CGD...
July 2016: Indian Journal of Tuberculosis
https://www.readbyqxmd.com/read/27862144/approach-to-the-management-of-autoimmunity-in-primary-immunodeficiency
#16
REVIEW
Gholamreza Azizi, Vahid Ziaee, Marzieh Tavakol, Tina Alinia, Reza Yazdai, Hamed Mohammadi, Hassan Abolhassani, Asghar Aghamohammadi
Primary immunodeficiency diseases (PIDs) consist of a genetically heterogeneous group of immune disorders that affect distinct elements of the immune system. PID patients are more prone to infections and non-infectious complications, particularly autoimmunity. The concomitance of immunodeficiency and autoimmunity appears to be paradoxical and leads to difficulty in the management of autoimmune complications in PID patients. Therefore, management of autoimmunity in patients with PID requires special considerations because dysregulations and dysfunctions of the immune system along with persistent inflammation, impair the process of diagnosis and treatment...
November 8, 2016: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/27849353/evaluating-dose-ratio-of-subcutaneous-to-intravenous-immunoglobulin-therapy-among-patients-with-primary-immunodeficiency-disease-switching-to-20-subcutaneous-immunoglobulin-therapy
#17
Girishanthy Krishnarajah, Jee-Yeon K Lehmann, Brian Ellman, Rachel H Bhak, Maral DerSarkissian, Deane Leader, Ann L Bullinger, Mei Sheng Duh
BACKGROUND: Current prescribing information recommends that physicians apply a dose ratio of 1.37:1 (1.53:1 prior to January 2015) in the United States (US) when switching patients with primary immunodeficiency disease (PI) from intravenous (IVIG) therapy to most subcutaneous therapy ([SCIG], except the 10% SCIG human hyaluronidase and immune globulin). However, a dose ratio of 1:1 was studied and approved for the European Union (EU). The dose-adjustment ratio used by prescribers in real-world US clinical practice is unknown...
October 2016: American Journal of Managed Care
https://www.readbyqxmd.com/read/27849230/primary-hypogammaglobulinemia-the-impact-of-early-diagnosis-in-lung-complications
#18
Mayra de Barros Dorna, Cristiane de Jesus Nunes Dos Santos, Ana Paula Beltran Moschione Castro, Luiz Antônio Nunes de Oliveira, Lisa Suzuki, Andrea Langone Ferme, Magda Maria Sales Carneiro-Sampaio, Antonio Carlos Pastorino
Objective: To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH). Method: A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level. Results: We evaluated 30 patients with PH...
September 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27843873/liver-abscess-in-a-boy-with-hyper-ige-syndrome
#19
Sneha Nandy, Ira Shah
Hyper immunoglobulin-E syndrome is a rare primary immunodeficiency disease, characterized by the classical triad of recurrent staphylococcal skin abscesses, pneumonia with pneumatocele formation, and elevated levels of serum IgE, usually over 2000 IU/mL. Chronic granulomatous disease, hyper IgE, and complement deficiencies are immunopathologies known to be associated with liver abscesses. We present a 2 ½-year-old boy with liver abscess and associated hyper IgE.
April 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/27836060/primary-immunodeficiency-new-insights-and-practical-clinical-approaches
#20
EDITORIAL
Charlotte Cunningham-Rundles
No abstract text is available yet for this article.
November 2016: Journal of Allergy and Clinical Immunology in Practice
keyword
keyword
57335
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"