Results 71 to 80 of about 15,568 (286)

Inborn Errors of Immunity: New Insights

Acta Medica Academica
This paper presents a comprehensive and updated overview of inborn errors of immunity (IEIs), focusing on the optimal treatment strategies. IEIs or primary immunodeficiencies (PIDs) are a heterogeneous group of approximately 500 disorders, classified into ten categories according to the affected component of the immune system. The clinical presentation
Roganović, Jelena, Bellesi, Gaia
openaire   +3 more sources

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Low Baseline Pneumococcal Antibody Titers Predict Specific Antibody Deficiency, Increased Upper Respiratory Infections, and Allergy Sensitization. [PDF]

, 2020
Background:Inadequate titers of pneumococcal antibody (PA) are commonly present among patients with recurrent respiratory infections. Objective:We sought to determine the effect of the degree of inadequacy in baseline PA titers on the subsequent ...
Chernikova, Diana, Estevez, Dennys, Hernandez, Francesca, Sakai-Bizmark, Rie, Song, Charles H, Stiehm, Richard   +5 more
core  

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies [PDF]

, 2018
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity.
AA Bousfiha, AA Bousfiha, Amos Etzioni, Aziz Bousfiha, Capucine Picard, Charlotte Cunningham-Rundles, Christoph Klein, Eric Oksenhendler, Fatima Ailal, H. Bobby Gaspar, Hans D. Ochs, Jean-Laurent Casanova, Jennifer Puck, Jose Luis Franco, Kathleen E. Sullivan, L Jeddane, L Kobrynski, Leïla Jeddane, Mimi L. K. Tang, Steven M. Holland, Stuart G. Tangye, Talal Chatila, Tomohiro Morio, Troy R. Torgerson, Waleed Al-Herz, Yanick J. Crow   +25 more
core   +4 more sources

Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs

Advanced Science, EarlyView.
Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang, Yuanyuan Zhang, Choulin Chen, Xiaoxian Xu, Shenghua Qin, Junyan Qi, Yongzhou Bao, Huiming Li, Ruipu Chen, Weigang Zheng, Zhilong Chen, Lingzhao Fang, Yunxiang Zhao, Yuwen Liu   +13 more
wiley   +1 more source

Future of Therapy for Inborn Errors of Immunity [PDF]

Clinical Reviews in Allergy & Immunology, 2022
Over the past 20 years, the rapid evolution in the diagnosis and treatment of primary immunodeficiencies (PI) and the recognition of immune dysregulation as a feature in some have prompted the use of "inborn errors of immunity" (IEI) as a more encompassing term used to describe these disorders [1, 2] .
openaire   +2 more sources

Microbiome and Its Dysbiosis in Inborn Errors of Immunity

Pathogens, 2023
Inborn errors of immunity (IEI) can present with infections, autoimmunity, lymphoproliferation, granulomas, and malignancy. IEIs are due to genetic abnormalities that disrupt normal host-immune response or immune regulation.
Madhubala Sharma, Manpreet Dhaliwal, Rahul Tyagi, Taru Goyal, Saniya Sharma, Amit Rawat   +5 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source