Results 21 to 30 of about 215 (110)

Single-cycle rituximab-induced immunologic changes in children Enhanced in neuroimmunologic disease? [PDF]

, 2023
Objective: To investigate the immunologic impact of a single cycle of rituximab (RTX) in children and adolescents with immune-mediated disorders, we evaluated B cells and immunoglobulin levels of 20 patients with neuroimmunologic, nephrologic ...
Alsina Manrique de Lara, Laia, Madrid, Alvaro, Piquer, Monica, Juan, Manel, Gordón, Yadira, Esteve-Solé, Ana, Molina Anguita, Cristina, Vlagea, Alexandru, García-García, A., Antón López, Jordi, Deyá, Angela, Plaza, Ana M., Armangué, Thaís   +12 more
core   +1 more source

Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion

Frontiers in Pediatrics, 2021
Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse.
Edna Venegas-Montoya, Aidé Tamara Staines-Boone, Luz María Sánchez-Sánchez, Jorge Alberto García-Campos, Rubén Antonio Córdova-Gurrola, Yuridia Salazar-Galvez, David Múzquiz-Zermeño, María Edith González-Serrano, Saul O. Lugo Reyes   +8 more
doaj   +1 more source

Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies

Pediatric Allergy and Immunology, Volume 32, Issue 8, Page 1601-1615, November 2021., 2021
Abstract Predominantly antibody deficiencies (PADs) encompass a heterogeneous group of disorders characterized by low immunoglobulin serum levels in the presence or absence of peripheral B cells. Clinical presentation of affected patients may include recurrent respiratory and gastrointestinal infections, invasive infections, autoimmune manifestations ...
Parisa Amirifar, Reza Yazdani, Gholamreza Azizi, Mohammad Reza Ranjouri, Anne Durandy, Alessandro Plebani, Vassilios Lougaris, Lennart Hammarstrom, Asghar Aghamohammadi, Hassan Abolhassani, Fabio Candotti   +10 more
wiley   +1 more source

Delayed Diagnosis of X‐linked Lymphoproliferative Syndrome Type 2 in a 17‐year‐old Male With Severe Crohn's Disease and Recurrent Skin Infections

JPGN Reports, Volume 2, Issue 3, August 2021., 2021
X‐linked lymphoproliferative syndrome type 2 (XLP2) is a rare genetic primary immunodeficiency disease caused by mutations in the XIAP gene that lead to deficiency of the X‐linked inhibitor of apoptosis protein. XLP2 is characterized by dysregulated immune responses and can result in an inflammatory bowel disease (IBD)‐like phenotype, a form of ...
Stephanie A. Zacharias, Priyanka Seshadri, Sharon Hwang, Laura Baker, Jonathan Powell, J. Fernando del Rosario, Zarela Molle‐Rios   +6 more
wiley   +1 more source

Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity

Pediatric Allergy and Immunology, Volume 32, Issue 6, Page 1335-1348, August 2021., 2021
Abstract Background The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without ...
Gholamreza Azizi, Marzieh Tavakol, Reza Yazdani, Samaneh Delavari, Tannaz Moeini Shad, Seyed Erfan Rasouli, Mahnaz Jamee, Salar Pashangzadeh, Arash Kalantari, Mansoureh Shariat, Alireza Shafiei, Javad Mohammadi, Gholamreza Hassanpour, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Nasrin Behniafard, Mohammad Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Soheila Alyasin, Farahzad Jabbari‐Azad, Javad Ghaffari, Mehrnaz Mesdaghi, Hamid Ahanchian, Maryam Khoshkhui, Mohammad Hossein Eslamian, Taher Cheraghi, Abbas Dabbaghzadeh, Rasoul Nasiri Kalmarzi, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Mahnaz Sadeghi‐Shabestari, Sepideh Darougar, Mojgan Moghtaderi, Akefeh Ahmadiafshar, Behzad Shakerian, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Morteza Fallahpour, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziyar Rahimi Haji‐Abadi, Parisa Ashournia, Anahita Razaghian, Arezou Rezaei, Fereshte Salami, Paniz Shirmast, Nasrin Bazargan, Setareh Mamishi, Hossein Ali Khazaei, Babak Negahdari, Sima Shokri, Seyed Hesamedin Nabavizadeh, Saeed Bazregari, Ramin Ghasemi, Shiva Bayat, Hamid Eshaghi, Nima Rezaei, Hassan Abolhassani, Asghar Aghamohammadi, Marina Atanaskovic‐Markovic   +70 more
wiley   +1 more source

An online compendium of treatable genetic disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 187, Issue 1, Page 48-54, March 2021., 2021
Abstract More than 4,000 genes have been associated with recognizable Mendelian/monogenic diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers increasingly turn to internet resources for information to understand the disease and direct care.
David Bick, Sarah L. Bick, David P. Dimmock, Tom A. Fowler, Mark J. Caulfield, Richard H. Scott   +5 more
wiley   +1 more source

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. [PDF]

PLoS ONE, 2017
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia.
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu   +9 more
doaj   +1 more source

Genome Editing With TALEN, CRISPR-Cas9 and CRISPR-Cas12a in Combination With AAV6 Homology Donor Restores T Cell Function for XLP

Frontiers in Genome Editing, 2022
X-linked lymphoproliferative disease is a rare inherited immune disorder, caused by mutations or deletions in the SH2D1A gene that encodes an intracellular adapter protein SAP (Slam-associated protein).
Benjamin C. Houghton, Neelam Panchal, Simone A. Haas, Simone A. Haas, Kay O. Chmielewski, Kay O. Chmielewski, Kay O. Chmielewski, Markus Hildenbeutel, Markus Hildenbeutel, Thomas Whittaker, Claudio Mussolino, Claudio Mussolino, Toni Cathomen, Toni Cathomen, Adrian J Thrasher, Claire Booth   +15 more
doaj   +1 more source

Delayed diagnosis of Angioimmunoblast T-cell lymphoma presenting with type II Cryoglobulinemia and acute kidney injury: a case report and narrative review of the literature

BMC Nephrology, 2020
Background Angioimmunoblastic T cell lymphoma (AITL) is an infrequent hematological malignancy with variable and often atypical presentations. The presence of dysproteinemia, autoantibodies and systemic involvement in AITL has often led to a delay in ...
Xiang-Yang Li, Hai-Yan He, Shu-Ling Yue, Pearl Pai   +3 more
doaj   +1 more source

An unusual cause of recurrent pneumonia in adults

Lung India, 2014
Selective IgM deficiency is a rare primary immunodeficiency defined as isolated low levels of IgM. It presents with recurrent infections and has been described as first presenting in adulthood with recurrent respiratory tract infections.
Varun Dhir, Vinay Sagar, Ashutosh Aggarwal, Amit Rawat, Manphool Singhal   +4 more
doaj   +1 more source