Results 21 to 30 of about 1,434 (204)

Hyper Immunoglobulin M Immunodeficiency (Dysgammaglobulinemia) [PDF]

Journal of Clinical Investigation, 1979
Raif S. Geha, N. Hyslop, Samih Y. Alami, Fuad S. Farah, Eveline E. Schneeberger, Fred S. Rosen   +5 more
openalex   +2 more sources

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

Jornal de Pediatria, 2020
Jehane Fadlallah, Loïc Chentout, Bertrand Boisson, Aurore Pouliet, Cécile Masson, Florence Morin, Anne Durandy, Jean‐Laurent Casanova, Éric Oksenhendler, Sven Kracker   +9 more
openalex   +3 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

Significant differences in B-cell subpopulations characterize patients with chronic graft-versus-host disease–associated dysgammaglobulinemia

Blood, 2010
Zoya Kuzmina, Hildegard Greinix, Roman Weigl, Ulrike Körmöczi, Arno Rottal, Sophie Frantal, Sandra Eder, Winfried F. Pickl   +7 more
openalex   +2 more sources

Immunologic Amnesia: Study of an 11-Year-Old Girl with Recurrent Severe Infections Associated with Dysgammaglobulinemia, Lymphopenia and Lymphocytotoxic Antibody, Resulting in Loss of Immunologic Memory [PDF]

Pediatric Research, 1968
R Kretschmer, Charles A. Janeway, Fred S. Rosen   +2 more
openalex   +2 more sources

The roadmap for allergology in Europe: The European training requirements for the specialty of allergology. [PDF]

Allergy, 2021
Allergy, Volume 76, Issue 5, Page 1588-1591, May 2021.
Gerth van Wijk R, Mülleneisen N, Demoly P, Olaguibel JM, Popov TA, Schmid-Grendelmeier P, Tsilochristou O.   +6 more
europepmc   +2 more sources

Aspergilloma Superimposed Infection on Lymphoid Interstitial Pneumonia. [PDF]

Case Rep Emerg Med, 2020
We describe a case of a 27‐year‐old female without any prior underlying immunodeficiency syndromes who presented with hemoptysis secondary to subacute invasive pulmonary aspergillosis and subsequently diagnosed with lymphoid interstitial pneumonia (LIP). CT chest demonstrated bilateral interstitial disease with patchy opacities and multiple large cysts
Tran D, Rengan R, Lee J, Lucerna A, Espinosa J.   +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