Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications. [PDF]
Abubakir M +5 more
europepmc +1 more source
Biomarkers of Lupus Nephritis Histopathology: Where Do We Stand?
Objective Lupus nephritis (LN) is characterized by a variable disease course, necessitating continuous monitoring. There is an urgent need to identify noninvasive biomarkers. By reviewing and critically assessing the quality of existing studies on LN biomarkers correlating with histopathology, we here explore the challenges in promoting their use in ...
Valentina Querin +11 more
wiley +1 more source
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]
Sefer AP +16 more
europepmc +1 more source
Objective Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. Variable copy number (CN) of C4 genes and retroviral HERV‐K element influence its function.
Javier Martínez‐López +23 more
wiley +1 more source
Mapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: broad distribution with distinct clustering patterns. [PDF]
Tahiat A +30 more
europepmc +1 more source
Objective Systemic lupus erythematosus (SLE) is characterized by increased type I interferon (IFN‐I) and autoantibody production. This study aimed to identify drugs that can inhibit both IFN‐I and autoantibody production. Methods We identified an inhibitor of IFN‐I production from a chemical library.
Takehiro Hirayama +16 more
wiley +1 more source
The Presentation, Diagnosis, and Management of Autosomal Dominant Common Variable Immunodeficiency Type XII with NFKB1 Mutation and Autoimmune Neutropenia Treated with Allogenic Stem Cell Transplantation. [PDF]
Gold M +11 more
europepmc +1 more source
Refractory Antiphospholipid Syndrome With Thoracic Outlet and Superior Vena Cava Syndromes: A Complex Case of Recurrent Thrombosis. [PDF]
Khan TA, Schick S, Figueroa J, Swami J.
europepmc +1 more source
Objectives The aim of this study is to generate hypotheses about unknown drugs associated with the onset or worsening of Raynaud's Phenomenon (RP) and to explore their potential pathophysiological mechanisms through a mixed disproportionality/clustering analysis from the WHO pharmacovigilance database.
Alex Hlavaty +4 more
wiley +1 more source
Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis. [PDF]
Muñoz-Echeverria L +2 more
europepmc +1 more source

