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RANDOMIZED CONTROLLED TRIAL
Zoe K McQuilten, Robert Weinkove, Le Thi Phuong Thao, Philip Crispin, Amber Degelia, Claire Dendle, Michael Gilbertson, Anna Johnston, Anastazia Keegan, Dominic Pepperell, Humphrey Pullon, John Reynolds, Tina van Tonder, Judith Trotman, Neil Waters, Cameron Wellard, Helen Weston, C Orla Morrissey, Erica M Wood
Immunoglobulin replacement and prophylactic antibiotics are commonly used to prevent infections in patients with secondary hypogammaglobulinemia due to hematological malignancies but have never been directly compared. In this randomized controlled feasibility trial conducted in 7 hospitals in Australia and New Zealand, we enrolled patients with secondary hypogammaglobulinemia with either a history of recurrent/severe infection or an immunoglobulin G level <4 g/L. Participants were randomized in a 1:2 ratio to immunoglobulin (0...
April 9, 2024: Blood Advances
#2
JOURNAL ARTICLE
Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalya V Balinova, Yulia Rodina, Dmitry Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period...
April 5, 2024: Journal of Clinical Immunology
#3
Ting Zhang, Ming Li, Li Tan, Xin Li
BACKGROUND: Pulmonary alveolar proteinosis (PAP) and X-linked agammaglobulinemia (XLA) are rare diseases in children. Many theories infer that immunodeficiency can induce PAP, but these reports are almost all review articles, and there is little clinical evidence. We report the case of a child with both PAP and XLA. CASE SUMMARY: A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for > 2 wk. He had been hospitalized multiple times due to respiratory infections and diarrhea...
March 26, 2024: World Journal of Clinical Cases
#4
JOURNAL ARTICLE
Tomokazu Kimizu, Masatoshi Nozaki, Yousuke Okada, Akihisa Sawada, Misaki Morisaki, Hiroshi Fujita, Akemi Irie, Keiko Matsuda, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Masanobu Kawai, Kohsuke Imai, Yasuhiro Suzuki, Kazuko Wada, Nobuaki Mitsuda, Shinobu Ida
In newborn screening (NBS), it is important to consider the availability of multiplex assays or other tests that can be integrated into existing systems when attempting to implement NBS for new target diseases. Recent developments in innovative testing technology have made it possible to simultaneously screen for severe primary immunodeficiency (PID) and spinal muscular atrophy (SMA) using quantitative real-time polymerase chain reaction (qPCR) assays. We describe our experience of optional NBS for severe PID and SMA in Osaka, Japan...
February 28, 2024: Genes
#5
Rada Miskovic, Jelena Ljubicic, Branka Bonaci-Nikolic, Ana Petkovic, Vladana Markovic, Ivan Rankovic, Jelena Djordjevic, Ana Stankovic, Kristel Klaassen, Sonja Pavlovic, Maja Stojanovic
INTRODUCTION: PU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene. This gene codes for PU.1 pioneer transcription factor important for the maturation of monocytes, B lymphocytes, and conventional dendritic cells. Only six cases with PU.MA, presenting with chronic sinopulmonary and systemic enteroviral infections, have been previously described. Accumulating literature evidence suggests a possible relationship between SPI1 mutation, microglial phagocytic dysfunction, and the development of Alzheimer's disease (AD)...
2024: Frontiers in Immunology
#6
JOURNAL ARTICLE
Sameer Bahal, Marta Zinicola, Shefta E Moula, Thomas E Whittaker, Andrea Schejtman, Asma Naseem, Elena Blanco, Winston Vetharoy, Yi-Ting Hu, Rajeev Rai, Eduardo Gomez-Castaneda, Catarina Cunha Santos, Siobhan O Burns, Emma C Morris, Claire Booth, Giandomenico Turchiano, Alessia Cavazza, Adrian J Thrasher, Giorgia Santilli
BACKGROUND: X-linked agammaglobulinemia (XLA) is an inborn error of immunity that renders boys susceptible to life-threatening infections due to loss of mature B cells and circulating immunoglobulins. It is caused by defects in the gene encoding the Bruton's Tyrosine Kinase (BTK) that mediates the maturation of B cells in the bone marrow and their activation in the periphery. Here we report on a gene editing protocol to achieve "knock-in" of a therapeutic BTK cassette in hematopoietic stem and progenitor cells (HSPCs) as a treatment for XLA...
March 11, 2024: Journal of Allergy and Clinical Immunology
#7
JOURNAL ARTICLE
V Accardo, I Pagnini, I Maccora, E Marrani, M V Mastrolia, G Simonini
OBJECTIVES: This study aims to describe clinical features, therapeutic outcomes, and safety profiles in patients affected by juvenile idiopathic arthritis (JIA) and inborn errors of immunity (IEI) treated with biological Disease-modifying antirheumatic drugs (DMARDs). METHODS: We enrolled three patients who were followed in the Pediatric Rheumatology Unit at Meyer Children's Hospital in Florence; these patients were affected by JIA, according to ILAR criteria, and IEI, according to the IUIS Phenotypical Classification for Human Inborn Errors of Immunity...
2024: Frontiers in Pediatrics
#8
Bindi Verónica, Carolina Crespo, Noelia Lochner, Estefanía Rossetti, Cecilia Tagliavini, Carolina Bouso, Hernan Eiroa
OBJECTIVES: Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis of the TC-cbl complex in peripheral tissues. TC deficiency is a rare disorder that causes intracellular Cbl depletion. It presents in early infancy with a failure to thrive, diarrhea, anemia, agammaglobulinemia, and pancytopenia. Data from five TC-deficient patients including clinical, biochemical, and molecular findings, as well as long-term outcomes, were collected...
March 5, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
#9
REVIEW
Archan Sil, Suprit Basu, Vibhu Joshi, Rakesh Kumar Pilania, Sangeetha Siniah, Deepti Suri, Amit Rawat, Surjit Singh
Immunoglobulins (Ig) were used as a therapeutic modality for the first time in a patient with X-linked agammaglobulinemia in 1952 by Colonel Ogden Bruton, decades before the molecular mechanisms causing the disease were unraveled. In many autoimmune and inflammatory illnesses, human immunoglobulin has been employed as a significant immunomodulatory and immunosuppressive drug. In patients with inborn errors of immunity (IEI), immunoglobulin remains a cornerstone of management. IEIs are notable causes of recurrent infections and autoimmunity due to inheritable single-gene defects in genes encoding for different components of the immune system...
2024: Frontiers in Pediatrics
#10
JOURNAL ARTICLE
Nima Taghizadeh, Soha Mohammadi, Hassan Abolhassani, Sima Shokri, Mohammad Nabavi, Morteza Fallahpour, Mohammad Hassan Bemanian
BACKGROUND: Severe combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell function, resulting in significant immune system dysfunction. Recombination-activating gene (RAG) mutations account for a substantial proportion of SCID cases. Here, we present two sibling cases of SCID caused by a novel RAG2 gene mutation. CASE PRESENTATION: The index case was an 8-year-old boy who had a history of recurring infections. After a comprehensive immunological workup, the initial diagnosis of agammaglobulinemia was revised to combined immunodeficiency (CID)...
February 13, 2024: BMC Pediatrics
#11
JOURNAL ARTICLE
M Mellado, N Arroyo, J E García, N Arias, U Macías-Cruz, J Mellado
This retrospective observational study aimed to assess the effect of temperature-humidity index (THI) at calving and in the last trimester of pregnancy and calve-related factors affecting passive transfer of maternal immunoglobulin using Brix refractometry in Holstein calves. Blood samples from 4411 Holstein calves from a single large dairy farm in spring 2022 were used. A subset of data containing 6318 calvings was used to determine the effect of climatic conditions on the occurrence of agammaglobulinemia...
January 24, 2024: Tropical Animal Health and Production
#12
REVIEW
Hana Y Ghanim, Matthew H Porteus
Inborn errors of immunity (IEI) present a unique paradigm in the realm of gene therapy, emphasizing the need for precision in therapeutic design. As gene therapy transitions from broad-spectrum gene addition to careful modification of specific genes, the enduring safety and effectiveness of these therapies in clinical settings have become crucial. This review discusses the significance of IEIs as foundational models for pioneering and refining precision medicine. We explore the capabilities of gene addition and gene correction platforms in modifying the DNA sequence of primary cells tailored for IEIs...
January 17, 2024: Immunological Reviews
#13
JOURNAL ARTICLE
Bas M Smits, Sharisa L Boland, Marjolein E Hol, Rana Dandis, Helen Leavis, Pim A de Jong, Sabine M P J Prevaes, Firdaus A A Mohamed Hoesein, Joris M van Montfrans, Pauline M Ellerbroek
BACKGROUND: Patients with primary antibody deficiency (PAD) frequently suffer from pulmonary complications, associated with severe morbidity and mortality. Hence, regular pulmonary screening by computed tomography (CT) scanning is advised. However, predictive risk factors for pulmonary morbidity are lacking. OBJECTIVE: To identify PAD patients at risk for pulmonary complications necessitating regular CT screening. METHODS: A retrospective longitudinal cohort study of PAD patients (median follow-up 7...
January 3, 2024: Journal of Allergy and Clinical Immunology in Practice
#14
JOURNAL ARTICLE
Federica Plano, Mojtaba Shekarkar Azgomi, Anna Maria Corsale, Corinne Spoto, Nadia Caccamo, Serena Meraviglia, Francesco Dieli, Paolo D'Angelo, Antonino Trizzino, Sergio Siragusa
This study delves into the intricate landscape of SARS-CoV-2 vaccine response in immunodeficient patients, focusing on the dynamics of both humoral and cell-mediated immunity. The cohort includes patients with common variable immunodeficiency (CVI), agammaglobulinemia (XLA), and combined immunodeficiency (CI). The findings reveal varying degrees of antibody production, with XLA patients exhibiting no measurable response but displaying a robust T-cell-mediated response. The study emphasizes the importance of considering both arms of the immune system in assessing vaccine immunogenicity, particularly in the context of immunodeficiency...
December 8, 2023: Hematology Reports
#15
JOURNAL ARTICLE
Lauren E Kueffer, David Yin-Wei Lin, Neha Amatya, Joseph Serrenho, Raji E Joseph, Adam H Courtney, Amy H Andreotti
Bruton's Tyrosine Kinase (BTK) is a nonreceptor tyrosine kinase that belongs to the TEC family. Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA) leading to an arrest in B-cell development. BTK is also a drug target for B-cell lymphomas that rely on an intact B-cell receptor signaling cascade for survival. All FDA approved drugs for BTK target the ATP binding site of the catalytic kinase domain, leading to potential adverse events due to off-target inhibition. In addition, acquired resistance mutations occur in a subset of patients, rendering available BTK inhibitors ineffective...
December 13, 2023: Biochemistry
#16
REVIEW
Marco Antonio Yamazaki-Nakashimada, Patricia Herrera-Mora, Alfonso Mahrx-Bracho, Gabriela López-Herrera, Juan Carlos Bustamante-Ogando, Selma Cecilia Scheffler-Mendoza
Most patients with X-linked agammaglobulinemia are susceptible to infections, while some cases also suffer from inflammatory or autoimmune complications. We describe a patient with progressive encephalitis who improved after the use of immunomodulatory treatment with corticosteroids, fluoxetine, and nitazoxanide. In most of the cases the evolution of the progressive encephalitis is complicated and catastrophic. Based on our experience and the review of the literature, we propose the use of this combined treatment to control this devastating complication...
October 29, 2023: Iranian Journal of Allergy, Asthma, and Immunology
#17
Amanpreet Kalkat, Olivia Humpel, Robert Hostoffer
X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton's tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6 months of age. A 55-year-old male with a longstanding common variable immunodeficiency diagnosis on infusion therapy presented to the clinic with cutaneous T-cell lymphoma, which inspired overall repeat evaluation. Immunoglobulin levels and lymphocyte markers, family history, and genetic testing prompted a true diagnosis of XLA and novel mutation in the BTK gene...
2023: Case Reports in Immunology
#18
JOURNAL ARTICLE
Tariq Al Farsi, Khwater Ahmed, Nashet Al Sukaiti
Background and Aim: Chronic giardia infection can lead to non-erosive gastrointestinal disorders, including protein-losing enteropathy (PLE). This report describes non-diarrheal PLE in chronic giardiasis in children with defective humoral immunity. Methods: The retrospective report is related to 2 children known to have a monogenic inborn error of immunity. The first patient is a 13-year-old boy with X-linked agammaglobulinemia (Patient-1), and the second is a 5-year-old boy with NF-kB inducing kinase (NIK) deficiency infection...
2023: Qatar Medical Journal
#19
JOURNAL ARTICLE
Claudia M Merhar, Diana I Liberatore
Down syndrome, or trisomy 21, has a higher mortality than the general population, mainly due to respiratory tract infections. The objective of this study was to describe immune compromise in a series of cases of patients with Down syndrome referred to the Pediatric Immunology Section due to recurrent infections or pathological laboratory findings between 6/1/2016 and 5/31/2022. Here we describe immune compromise in 24 patients. Twelve patients failed to develop a polysaccharide response and received antibiotic chemoprophylaxis, or gamma globulin replacement therapy...
December 7, 2023: Archivos Argentinos de Pediatría
#20
REVIEW
Neil Romberg, Carole Le Coz
Common variable immunodeficiency (CVID) is a heterogenous disease category created to distinguish late-onset antibody deficiencies from early-onset diseases like agammaglobulinemia or more expansively dysfunctional combined immunodeficiencies. Opinions vary on which affected patients should receive a CVID diagnosis which confuses clinicians and erects reproducibility barriers for researchers. Most experts agree that CVID's most indeliable feature is defective germinal center (GC) production of isotype-switched, affinity-maturated antibodies...
November 28, 2023: Immunological Reviews
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