Results 11 to 20 of about 1,006 (159)

Exon skipping caused by a complex structural variation in SH2D1A resulted in X‐linked lymphoproliferative syndrome type 1

Molecular Genetics & Genomic Medicine, 2022
Background X‐linked lymphoproliferative syndrome type 1 (XLP1) is a rare primary immunodeficiency disorder characterized by severe immune dysregulation often after viral infection. It is caused by hemizygous mutations in the X‐linked SH2D1A gene.
Liwen Wu, Feng Yang, Jia Wang, Fan Yang, Mengmeng Liang, Haiyan Yang   +5 more
doaj   +2 more sources

Immune Dysfunction in Tourette Syndrome

Behavioural Neurology, 2013
The association between immunity and neurodevelopmental disorders has been extensively investigated in autism, suggesting a potential involvement of both cellular and humoral immunity in the establishment of synaptic connectivity modulation during ...
Ishraga Elamin, Mark J. Edwards, Davide Martino   +2 more
doaj   +2 more sources

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

JPGN Rep, 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 ...
Zacharias SA, Seshadri P, Hwang S, Baker L, Powell J, Fernando Del Rosario J, Molle-Rios Z.   +6 more
europepmc   +2 more sources

Changes in Serum Immunoglobulin Levels Play as Predictors of Treatment Response and Prognosis in Pediatric Idiopathic Nephrotic Syndrome During the Remission Phase. [PDF]

Immun Inflamm Dis
ABSTRACT Background Nephrotic syndrome is an immune‐mediated renal disorder characterized by T‐cell and B‐cell dysfunctions with changes in immunoglobulin (Ig) levels and the IgG:IgM ratio. Therefore, this study aimed to determine whether the serum level of Igs can be considered as an index to predict the response to treatment and the prognosis of ...
Sadat Sharif A, Nickravesh N, Heidarzadeh Arani M, Azadchehr MJ, Motedayyen H.   +4 more
europepmc   +2 more sources

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

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

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

Bacteremic infections caused by nontypable Haemophilus influenzae in patients with dysgammaglobulinemia

Journal of Clinical Microbiology, 1983
Daniel Musher
exaly   +2 more sources

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

Jornal de Pediatria, 2020
The genetic investigation of a family presenting with a dominant form of hyper IgM syndrome published in 1963 and 1975 revealed a R190X nonsense mutation in activation-induced cytidine deaminase.
Jehane Fadlallah, Loïc Chentout, B. Boisson, Aurore Pouliet, C. Masson, F. Morin, A. Durandy, J. Casanova, E. Oksenhendler, S. Kracker   +9 more
semanticscholar   +1 more source