Results 81 to 90 of about 19,833 (230)

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency) [PDF]

, 2011
X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by
Canioni, D, et al, Moshous, D, Pachlopnik Schmid, Jana   +3 more
core   +1 more source

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): A Comprehensive Review of Types, Pathophysiology, and Treatment Approaches

Brain and Behavior, Volume 16, Issue 5, May 2026.
Chronic inflammatory demyelinating polyneuropathy is an autoimmune disorder causing demyelination, leading to distal weakness, sensory loss, and autonomic dysfunction. Immune activation triggers macrophage‐mediated myelin damage and conduction failure.
Ayesha Khan, Arsal Khan, Kuldeep Dalpat Rai, Anzel Saeed, Harsh Kumar, Aneesh Kumar Sangtiani, Tehreem Fatima, Muhammad Tanveer Alam, Faiza Rajput, Sakshi Chawla, Hussain Haider Shah, Humaira Kalam   +11 more
wiley   +1 more source

Case Report: Hypomorphic Ligase 4 deficiency – a paradigm of immunodysregulation

Frontiers in Immunology
DNA Ligase 4 is critical to nonhomologous end joining, necessary for V(D)J recombination in T and B cell development. Ligase 4 deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA Ligase 4 gene, that can lead to a ...
Catarina Andrade, Ana Isabel Cordeiro, Marta Valente Pinto, Marta Valente Pinto, Conceição Neves, Catarina Martins, Jean-Pierre Villartay, João Farela Neves, João Farela Neves   +8 more
doaj   +1 more source

Diagnostic Immunization with Bacteriophage ΦX 174 in Patients with Common Variable Immunodeficiency/Hypogammaglobulinemia

Frontiers in Immunology, 2014
Purpose: Use of the T cell-dependent neoantigen bacteriophage ΦX 174 has been described since the 1960s as a method to assess specific antibody response in patients with primary immunodeficiencies.
Lauren L Smith, Rebecca eBuckley, Patricia eLugar   +2 more
doaj   +1 more source

A Rare Giant Pleural Thymoma in Posterior Mediastinum. [PDF]

, 2012
Thymoma is an epithelial neoplasm of the thymus, which commonly lies in the anterior mediastinum. Unusually, thymomas can also be found in other locations. Surgical excision, when feasible, appears to provide good results. We encountered a rare case of a
Kalloli, M, Ramachandra, C, Srinivas, C, Vijayakumar, M   +3 more
core  

The Current Use and Future Perspectives of Biosimilars in Pediatric Healthcare: A Narrative Review

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims The integration of biosimilars into pediatric healthcare represents a significant evolution in treatment accessibility and cost‐effectiveness. Biosimilars—biological products highly similar to already approved biologics, have emerged as promising alternatives for managing chronic and rare pediatric conditions, including ...
Zubaier Ahmed, Tasfiah Tasnim Maha, Sanjana Nowsher, Wasima Taslim, Fatema‐Tuz‐Zohora, Sabrina Sharmin, Hasina Yasmin   +6 more
wiley   +1 more source

Experience with the use of Rituximab for the treatment of rheumatoid arthritis in a tertiary Hospital in Spain: RITAR study [PDF]

, 2019
There is evidence supporting that there are no relevant clinical differences between dosing rituximab 1000 mg or 2000 mg per cycle in rheumatoid arthritis (RA) patients in clinical trials, and low-dose cycles seem to have a better safety profile ...
Alvaro García, José M., Benedí, Juana, Castañeda, Santos, Cañamares, Iciar, García Vadillo, Alberto, González Álvaro, Isidoro, Llorente, Irene, López Bote, Juan Pedro, López, Jorge, Merino, Leticia, Muñoz Calleja, Cecilia, Ramírez, Esther   +11 more
core   +2 more sources

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang   +4 more
wiley   +1 more source

A rare case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis

Annals of Thoracic Medicine, 2014
Alpha 1-antitrypsin (AAT) belongs to the family of serpins (serine protease inhibitors). Loop sheet polymerization is the pathology behind serpinopathies which encompasses AAT, anti-thrombin III and neuroserpin deficiency.
Raghav Gupta, Srilekha Sridhara, John A Wood   +2 more
doaj   +1 more source

Human Cytomegalovirus Infection in Haematopoietic Stem Cell Transplant Recipients and CAR T Cell Recipients – PART 1: Risk Factors, Clinical Impact and Immune Response

Reviews in Medical Virology, Volume 36, Issue 3, May 2026.
ABSTRACT Human cytomegalovirus (HCMV) is one of the most important opportunistic pathogens in immunocompromised individuals, including allogeneic haematopoietic stem cell transplant (allo‐HSCT) recipients. In allo‐HSCT, HCMV seropositivity of the recipient and donor is associated with inferior survival outcomes, and post‐transplant HCMV reactivation is
Danya Kaplan, Emily Blyth, Gaurav Sutrave, Michelle K. Yong, David J. Gottlieb, Allison Abendroth, Barry Slobedman, Lauren Stern   +7 more
wiley   +1 more source