Results 11 to 20 of about 167,593 (141)

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

Frontiers in Immunology, 2022
SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune dysregulation, associated with impaired TCR signaling and thymocyte survival in humans.
Moisés Labrador-Horrillo, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Alba Parra-Martínez, Alba Parra-Martínez, Alba Parra-Martínez, María Antolín, Sandra Salgado-Perandrés, Sandra Salgado-Perandrés, Sandra Salgado-Perandrés, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran   +26 more
doaj   +1 more source

In-depth blood immune profiling of Good syndrome patients

Frontiers in Immunology, 2023
IntroductionGood syndrome (GS) is a rare adult-onset immunodeficiency first described in 1954. It is characterized by the coexistence of a thymoma and hypogammaglobulinemia, associated with an increased susceptibility to infections and autoimmunity.
Alba Torres-Valle, Alba Torres-Valle, Alba Torres-Valle, Larraitz Aragon, Susana L. Silva, Susana L. Silva, Cristina Serrano, Miguel Marcos, Miguel Marcos, Miguel Marcos, Josefa Melero, Carolien Bonroy, Carolien Bonroy, Pedro Pablo Arenas-Caro, David Monzon Casado, Pedro Mikel Requejo Olaizola, Jana Neirinck, Jana Neirinck, Mattias Hofmans, Mattias Hofmans, Sonia de Arriba, María Jara, María Jara, María Jara, Carlos Prieto, Ana E. Sousa, Álvaro Prada, Jacques J. M. van Dongen, Jacques J. M. van Dongen, Jacques J. M. van Dongen, Martín Pérez-Andrés, Martín Pérez-Andrés, Martín Pérez-Andrés, Martín Pérez-Andrés, Alberto Orfao, Alberto Orfao, Alberto Orfao, Alberto Orfao   +37 more
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Validation on the First-Tier Fully Automated High-Throughput <i>SMN1</i>, <i>SMN2</i>, TREC, and <i>RPP30</i> Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency. [PDF]

Int J Neonatal Screen
Mak CM, Ho TYC, Yip MK, Song FE, Tam RCM, Yu LWY, Ke AA, Law ECY, Chan TCH, Yeung MCW.   +9 more
europepmc   +2 more sources

Current Approach to Primary Immunodeficiency Diseases

Southern Clinics of Istanbul Eurasia, 2019
Primary immunodeficiency diseases (PIDD) are inherited disorders resulting from defects in diverse elements of the human immune system. Currently, more than 330 PIDDs have been described, and the molecular (genetic) bases for more than 320 of them are ...
Öner Özdemir
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A case report of Omenn syndrome in siblings

Journal of Education, Health and Sport, 2019
The article describes a case of Omenn syndrome in neonatal period. Omenn syndrome was diagnosed in two of three children of the same parents. Both of children had skin erythroderma since birth and eosynophilia in blood tests.
Agnieszka Berendt, Monika Wójtowicz-Marzec, Monika Dobrowolska, Anna Kwaśniewska   +3 more
doaj   +3 more sources

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

Frontiers in Immunology, 2018
The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the ...
Henry Y. Lu, Henry Y. Lu, Bradly M. Bauman, Swadhinya Arjunaraja, Batsukh Dorjbal, Joshua D. Milner, Andrew L. Snow, Stuart E. Turvey, Stuart E. Turvey   +8 more
doaj   +1 more source

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

Frontiers in Pediatrics, 2019
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J recombination that leads to generation of the T and B cell repertoires.
Mayra B. Dorna, Pamela F. A. Barbosa, Andréia Rangel-Santos, Krisztian Csomos, Boglarka Ujhazi, Joseph F. Dasso, Joseph F. Dasso, Daniel Thwaites, Joan Boyes, Sinisa Savic, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter   +12 more
doaj   +1 more source

Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside

Frontiers in Pediatrics, 2019
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and ...
Ottavia Maria Delmonte, Riccardo Castagnoli, Riccardo Castagnoli, Enrica Calzoni, Enrica Calzoni, Luigi Daniele Notarangelo   +5 more
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Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

Frontiers in Immunology, 2018
Nuclear factor kappa-light-chain-enhancer of activated B cells 1 (NF-κB1)-related human primary immune deficiencies have initially been characterized as defining a subgroup of common variable immunodeficiencies (CVIDs), representing intrinsic B-cell ...
Birgit Hoeger, Birgit Hoeger, Nina Kathrin Serwas, Nina Kathrin Serwas, Kaan Boztug, Kaan Boztug, Kaan Boztug, Kaan Boztug   +7 more
doaj   +1 more source

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

Frontiers in Immunology, 2022
Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infections and thrombocytopenia.
Maria Chiriaco, Giorgiana Madalina Ursu, Giorgiana Madalina Ursu, Donato Amodio, Nicola Cotugno, Nicola Cotugno, Stefano Volpi, Francesco Berardinelli, Francesco Berardinelli, Simone Pizzi, Cristina Cifaldi, Matteo Zoccolillo, Matteo Zoccolillo, Ignazia Prigione, Silvia Di Cesare, Silvia Di Cesare, Carmela Giancotta, Elisa Anastasio, Beatrice Rivalta, Beatrice Rivalta, Lucia Pacillo, Lucia Pacillo, Paola Zangari, Alessandro G. Fiocchi, Andrea Diociaiuti, Alessandro Bruselles, Francesca Pantaleoni, Andrea Ciolfi, Valentina D’Oria, Giuseppe Palumbo, Giuseppe Palumbo, Marco Gattorno, Maya El Hachem, Jean-Pierre de Villartay, Andrea Finocchi, Andrea Finocchi, Paolo Palma, Paolo Palma, Paolo Rossi, Paolo Rossi, Paolo Rossi, Marco Tartaglia, Alessandro Aiuti, Alessandro Aiuti, Alessandro Aiuti, Antonio Antoccia, Gigliola Di Matteo, Gigliola Di Matteo, Caterina Cancrini, Caterina Cancrini   +49 more
doaj   +1 more source