Results 31 to 40 of about 10,404 (208)

Campylobacter jejuni Pericarditis: A Case Report

Acta Médica Portuguesa, 2022
Campylobacter jejuni is one of the most common causes of enteritis. In rare cases, extraintestinal infection can occur, with a handful of cases of cardiac involvement, of which the pathophysiological mechanism is unclear.
Joao Neves-Maia, Catarina Gomes, António Marinho, Rute Alves   +3 more
doaj   +1 more source

Optimizing TREC‐ and KREC‐based newborn screening: Risk‐stratified algorithms significantly reduce referrals

Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Abstract Background Newborn screening (NBS) quantifying T‐cell receptor excision circles with or without kappa‐deleting recombination excision circles (TREC, KREC) enables early detection of severe T‐ and/or B‐cell lymphopenia. However, both markers have limited specificity, often resulting in unnecessary referrals.
Maarja Soomann, Seraina Prader, Susanna Sluka, Jana Pachlopnik Schmid, Johannes Trück   +4 more
wiley   +1 more source

Transient B cell lymphopenia revealed by KRECs newborn screening: Post‐screening referral strategies, clinical course, and follow‐up

Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Isolated low KREC and B‐cell lymphopenia in newborns often resolve spontaneously. This multicenter cohort tracked these cases via telemedicine. Repeating KREC testing on a second dry blood spot (DBS) before specialist referral reduces unnecessary immunologic evaluations.
Guarnieri Valentina, Drago Enrico, Pelosi Caterina, Boscia Silvia, Schena Francesca, Traverso Monica, Aloi Concetta, Salina Alessandro, Palmeri Serena, Cassanello Michela, Maghnie Mohamad, Astorino Valeria, Lodi Lorenzo, Azzari Chiara, Volpi Stefano, Ricci Silvia   +15 more
wiley   +1 more source

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report

Immunity, Inflammation and Disease, 2023
Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan, Afshin Shameli, Bruce Ritchie, Adil Adatia   +3 more
doaj   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

Frontiers in Immunology, 2017
Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood.
Katharina L. Gössling, Cyrill Schipp, Ute Fischer, Florian Babor, Gerhard Koch, Friedhelm R. Schuster, Jutta Dietzel-Dahmen, Dagmar Wieczorek, Arndt Borkhardt, Roland Meisel, Michaela Kuhlen   +10 more
doaj   +1 more source

Atypical course of COVID-19 in patient with Bruton agammaglobulinemia

Journal of Infection in Developing Countries, 2020
We present atypical course of the novel coronavirus disease (COVID-19) in 34-year man with Bruton agammaglobulinemia. The patient was successfully treated by a combination of available drugs, including convalescent plasma and interleukin-6 (IL-6 ...
Ivana Milošević, Jaroslava Jovanović, Olja Stevanovic   +2 more
doaj   +1 more source

Long‐Term Outcomes of Reduced‐Intensity Conditioning Hematopoietic Stem Cell Transplantation for Patients With Systemic Sclerosis With Impaired Cardiac Function

Arthritis &Rheumatology, Volume 78, Issue 6, Page 1294-1305, June 2026.
Objective High‐intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced systemic sclerosis (SSc). The role of reduced‐intensity conditioning (RIC) before AHSCT in this population remains unclear.
Yonatan Lean, Carrie Richardson, Anthony J. Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

Медицинская иммунология, 2020
Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single ...
E. V. Kuvschinova, L. M. Kurtasova, A. G. Borisov, A. R. Schmidt, T. A. Gerasimova   +4 more
doaj   +1 more source

Pharmacokinetic Model Based Sensitivity Analysis to Lower Recruitment Burden for Young Children Requiring Intravenous Immunoglobulin G Replacement

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 6, June 2026.
ABSTRACT To support a post‐marketing requirement for pharmacokinetic (PK)‐focused assessments in patients ages 2–16 years, a model‐informed drug development approach was used to overcome enrollment barriers in recruiting pediatric subjects with primary immune deficiency (PID) disorders under Age 6 in a Phase 4 pediatric study.
Todd Dumas, Shahram Mehr, Rebecca Avila, Amy Doman, Kaitlin Kestenberg, Isaac Melamed   +5 more
wiley   +1 more source