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JOURNAL ARTICLE
Chieko Fujishima, Sawa Munemoto, Chika Hioki, Hiroka Sasaki, Haruka Yoshida, Tetsuro Yamamoto, Hitoshi Kudo
No abstract text is available yet for this article.
May 1, 2022: European Journal of Dermatology: EJD
#2
REVIEW
Sanchi Chawla, Ankur Kumar Jindal, Kanika Arora, Rahul Tyagi, Manpreet Dhaliwal, Amit Rawat
X-linked agammaglobulinaemia (XLA) is a primary immunodeficiency (PID) resulting from a defect in the B cell development. It has conventionally been thought that T cells play a major role in the development and function of the B cell compartment. However, it has also been shown that B cells and T cells undergo bidirectional interactions and B cells also influence the structure and function of the T cell compartment. Patients with XLA offer a unique opportunity to understand the effect of absent B cells on the T cell compartment...
August 2023: Clinical Reviews in Allergy & Immunology
#3
Hanna Nguyen, Jo Salkeld, Sangita Agarwal, Anna Goodman
BACKGROUND: The role of antibodies in coronavirus disease 2019 (COVID-19) in patients with X-linked agammaglobulinaemia (XLA) has yet to be characterised and clinical courses observed in this cohort of patients have been heterogeneous. Whilst some exhibit spontaneous recovery, others have experienced a more protracted disease length. Previous reports have described successful use of convalescent plasma, however there is a paucity of information around the use of the REGN-COV2 antibody cocktail in these patients...
November 2021: Clinical infection in practice
#4
JOURNAL ARTICLE
Sook Yin Loh, John Bassett, Emily Jayne Hoodless, Martin Walshaw
This report highlights the case of a patient with X-linked agammaglobulinaemia (XLA) and resultant bronchiectasis who was discharged from hospital after recovering from real-time reverse transcriptase-PCR positive COVID-19 infection having had a subsequent negative swab and resolution of symptoms, but was readmitted 3 weeks later with recrudescent symptoms and a further positive swab. Although there are reports of COVID-19 infection in XLA, for the first time we report a case of possible reinfection. Lessons learnt from this case include the potential for reinfection of COVID-19 in a patient with a weakened immune system and the importance of repeating COVID-19 swabs in inpatients...
March 4, 2021: BMJ Case Reports
#5
JOURNAL ARTICLE
Ana Sá, Vanessa Palha, Elisa Condez, Narciso Oliveira
No abstract text is available yet for this article.
February 5, 2021: BMJ Case Reports
#6
JOURNAL ARTICLE
Matthew S Buckland, James B Galloway, Caoimhe Nic Fhogartaigh, Luke Meredith, Nicholas M Provine, Stuart Bloor, Ane Ogbe, Wioleta M Zelek, Anna Smielewska, Anna Yakovleva, Tiffeney Mann, Laura Bergamaschi, Lorinda Turner, Frederica Mescia, Erik J M Toonen, Carl-Philipp Hackstein, Hossain Delowar Akther, Vinicius Adriano Vieira, Lourdes Ceron-Gutierrez, Jimstan Periselneris, Sorena Kiani-Alikhan, Sofia Grigoriadou, Devan Vaghela, Sara E Lear, M Estée Török, William L Hamilton, Joanne Stockton, Josh Quick, Peter Nelson, Michael Hunter, Tanya I Coulter, Lisa Devlin, John R Bradley, Kenneth G C Smith, Willem H Ouwehand, Lise Estcourt, Heli Harvala, David J Roberts, Ian B Wilkinson, Nick Screaton, Nicholas Loman, Rainer Doffinger, Paul A Lyons, B Paul Morgan, Ian G Goodfellow, Paul Klenerman, Paul J Lehner, Nicholas J Matheson, James E D Thaventhiran
The response to the coronavirus disease 2019 (COVID-19) pandemic has been hampered by lack of an effective severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antiviral therapy. Here we report the use of remdesivir in a patient with COVID-19 and the prototypic genetic antibody deficiency X-linked agammaglobulinaemia (XLA). Despite evidence of complement activation and a robust T cell response, the patient developed persistent SARS-CoV-2 pneumonitis, without progressing to multi-organ involvement. This unusual clinical course is consistent with a contribution of antibodies to both viral clearance and progression to severe disease...
December 14, 2020: Nature Communications
#7
JOURNAL ARTICLE
Jovanka R King, Zubin Grover, Nazneen Irani, Andrew McLean-Tooke
No abstract text is available yet for this article.
February 2021: Journal of Allergy and Clinical Immunology in Practice
#8
JOURNAL ARTICLE
Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang, Xiangdong Kong
BACKGROUND: X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. However, the mutations reported to date do not fully explain the disorder. METHODS: We detected the percentage of CD19+ B cells and serum immunoglobulin (IgG, IgA, and IgM) levels by flow cytometry and rate scatter immunoturbidimetry, and investigated the BTK mutation profile in 22 XLA patients using Sanger sequencing and real-time PCR ...
June 17, 2020: BMC Medical Genetics
#9
JOURNAL ARTICLE
Phillip L R Nicolson, Sophie H Nock, Joshua Hinds, Lourdes Garcia-Quintanilla, Christopher W Smith, Joana Campos, Alexander Brill, Jeremy A Pike, Abdullah O Khan, Natalie S Poulter, Diedre M Kavanagh, Stephanie Watson, Callum N Watson, Hayley Clifford, Aarnoud P Huissoon, Alice Y Pollitt, Johannes A Eble, Guy Pratt, Steve P Watson, Craig E Hughes
Inhibitors of the tyrosine kinase Btk have been proposed as novel antiplatelet agents. In this study we show that low concentrations of the Btk inhibitor ibrutinib block CLEC-2-mediated activation and tyrosine phosphorylation including Syk and PLCγ2 in human platelets. Activation is also blocked in patients with X-linked agammaglobulinemia (XLA) caused by a deficiency or absence of Btk. In contrast, the response to GPVI is delayed in the presence of low concentrations of ibrutinib or in patients with XLA, and tyrosine phosphorylation of Syk is preserved...
January 1, 2021: Haematologica
#10
JOURNAL ARTICLE
Ya-Ni Zhang, Yuan-Yuan Gao, Si-Da Yang, Bin-Bin Cao, Ke-Lu Zheng, Ping Wei, Lian-Feng Chen, Wen-Xiong Chen
BACKGROUND: X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK), which may cause serious recurrent infections. The diagnosis of XLA is sometimes challenging because a few number of patients have higher levels of serum immunoglobulins than expected. In this study, we reported an atypical case with recurrent meningitis, delayed diagnosis with XLA by genetic analysis at the second episode of meningitis at the age of 8 years...
December 12, 2019: BMC Neurology
#11
REVIEW
Benjamin Martin James Shillitoe, Andrew R Gennery
PURPOSE OF REVIEW: X-linked agammaglobulinaemia (XLA) is a congenital defect of development of B lymphocytes leading to agammaglobulinaemia. It was one of the first primary immunodeficiencies described, but treatment has remained relatively unchanged over the last 60 years. This summary aims to outline the current outcomes, treatments and future research areas for XLA. RECENT FINDINGS: Immunoglobulin therapy lacks IgA and IgM, placing patients at theoretical risk of experiencing recurrent respiratory tract infections and developing bronchiectasis despite best current therapy...
December 2019: Current Opinion in Allergy and Clinical Immunology
#12
JOURNAL ARTICLE
Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan, Qiuju Wang
BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which is involved in mitochondrial transport of metabolites. This study aimed to identify the pathogenic gene variations in three Chinese families associated with predicted MTS with or without X-linked agammaglobulinaemia. METHODS: Otologic examinations, vestibular, neurological, optical and other clinical evaluations were conducted on the family members...
January 11, 2019: BMC Medical Genetics
#13
JOURNAL ARTICLE
Maryam Nourizadeh, Leila Shakerian, Stephan Borte, Mohammadreza Fazlollahi, Mohsen Badalzadeh, Massoud Houshmand, Zahra Alizadeh, Hossein Dalili, Ali Rashidi-Nezhad, Anoshirvan Kazemnejad, Mostafa Moin, Lennart Hammarström, Zahra Pourpak
T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs) are recently used for detection of T or B cell lymphopenia in neonates based on region-specific cutoff levels. Here, we report cutoffs for TREC and KREC copies useful for newborn screening and/or diagnosis of primary immunodeficiency diseases (PID) in Iran. DNA was extracted from a single 3.2 mm punch of dried blood spots collected from 2160 anonymized newborns referred to two major referral health centers between 2014 and 2016...
June 26, 2018: Scandinavian Journal of Immunology
#14
MULTICENTER STUDY
Isaac R Melamed, Michael Borte, Laurenz Trawnicek, Ai-Lan Kobayashi, Roger H Kobayashi, Alan Knutsen, Sudhir Gupta, William Smits, Anna Pituch-Noworolska, Magdalena Strach, Grazyna Pulka, Hans D Ochs, James N Moy
Intravenous immunoglobulin (IVIG) therapy is commonly used to treat patients with primary antibody deficiency. This prospective, open-label, non-randomised, multicentre, phase III trial investigated the pharmacokinetics of a new 10% liquid IVIG product (panzyga®; Octapharma) in 51 patients aged 2-75 years with common variable immunodeficiency (n = 43) or X-linked agammaglobulinaemia (n = 8). Patients were treated with IVIG 10% every 3 (n = 21) or 4 weeks (n = 30) at a dose of 200-800 mg/kg for 12 months...
June 15, 2018: European Journal of Pharmaceutical Sciences
#15
JOURNAL ARTICLE
Naveen Kumar Bhardwaj, Daisy Khera, Neeraj Gupta, Kuldeep Singh
We report a previously healthy 16-month-old child who presented to us with membranous pharyngitis and ecthyma gangrenosum. In this patient, Pseudomonas aeruginosa was isolated from throat swab, cerebrospinal fluid, skin swab, urine, blood and synovial fluid in a single admission. In further workup, this child was diagnosed as a case of X-linked agammaglobulinaemia. The child was treated successfully with antipseudomonal antibiotics for 6 weeks and intravenous immunoglobulin.
August 29, 2017: BMJ Case Reports
#16
REVIEW
Ben Shillitoe, Andrew Gennery
Colonel Ogden Bruton reported X-Linked Agammaglobulinaemia in 1952 and treated the child with replacement immunoglobulin therapy. Over 60years later, the treatment for XLA has largely remained unchanged. Replacement immunoglobulin lacks the isotypes IgA and IgM, leading to concerns that patients continue to experience recurrent sinopulmonary tract infections and be at increased risk of bronchiectasis. There is potential hope of earlier diagnosis with newborn screening, and a potential cure for these patients, in the form of gene therapy...
October 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
#17
COMPARATIVE STUDY
Ali Mohebbi, Gholamreza Azizi, Naeimeh Tavakolinia, Farzaneh Abbasi, Fatemeh Sayarifard, Mehdi Karimipour, Fatemeh Kiaee, Reza Yazdani, Sareh Sadat Ebrahimi, Mehran Ebrahimi, Hosein Rafiemanesh, Javad Tafaroji, Vahid Ziaee, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in the development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. In the present study, our aim was to evaluate bone mineral density (BMD) of patients with CVID and XLA...
2017: Endocrine, Metabolic & Immune Disorders Drug Targets
#18
JOURNAL ARTICLE
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María 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. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
#19
REVIEW
S Jolles, H Chapel, J 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) represent 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...
June 2017: Clinical and Experimental Immunology
#20
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. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
September 27, 2016: Revista Chilena de Pediatría
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