Results 91 to 100 of about 372,823 (284)

Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation

Journal of Immunology Research, 2019
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency (PID), characterized by fatal opportunistic infections.
Soukaina Essadssi, Al Mehdi Krami, Lamiae Elkhattabi, Zouhair Elkarhat, Ghita Amalou, Houria Abdelghaffar, Hassan Rouba, Abdelhamid Barakat   +7 more
doaj   +1 more source

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screeningX-linked severe combined immunodeficiency with Down syndrome identified by newborn screening [PDF]

Journal of Human Immunity
This is the first reported case of Down syndrome complicated by severe combined immunodeficiency successfully treated with hematopoietic stem cell transplantation.
Yusuke Imanaka, Takaki Asano, Kosuke Noma, Fumiaki Sakura, Norifumi Nishioka, Yoko Mizoguchi, Takahiro Kamiya, Hirokazu Kanegane, Satoshi Okada   +8 more
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CD3ε+ Cells in Pigs With Severe Combined Immunodeficiency Due to Defects in ARTEMIS

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) is described as the lack of functional T and B cells. In some cases, mutant genes encoding proteins involved in the process of VDJ recombination retain partial activity and are classified as hypomorphs. Hypomorphic
Adeline N. Boettcher, A. Giselle Cino-Ozuna, Yash Solanki, Jayne E. Wiarda, Jayne E. Wiarda, Jayne E. Wiarda, Ellie Putz, Jeana L. Owens, Sara A. Crane, Amanda P. Ahrens, Crystal L. Loving, Joan. E. Cunnick, Raymond R. R. Rowland, Sara E. Charley, Jack C. M. Dekkers, Christopher K. Tuggle   +15 more
doaj   +1 more source

MALT1 proteolytic activity suppresses autoimmunity in a T cell intrinsic manner [PDF]

, 2019
MALT1 is a central signaling component in innate and adaptive immunity by regulating NF-kappa B and other key signaling pathways in different cell types. Activities of MALT1 are mediated by its scaffold and protease functions.
Baens, Mathijs, Beyaert, Rudi, Demeyer, Annelies, Driege, Yasmine, Hochepied, Tino, Kreike, Marja, Skordos, Ioannis, Staal, Jens   +7 more
core   +2 more sources

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions

Journal of Allergy and Clinical Immunology, 2022
C. Dvorak, Elie Haddad, J. Heimall, E. Dunn, R. Buckley, D. Kohn, M. Cowan, S. Pai, Linda M. Griffith, G. Cuvelier, H. Eissa, Ami J. Shah, R. O'reilly, M. Pulsipher, N. Wright, R. Abraham, L. Satter, L. Notarangelo, J. Puck   +18 more
semanticscholar   +1 more source

Newborn screening for severe combined immunodeficiency: a primer for clinicians

Canadian Medical Association Journal, 2017
KEY POINTS Severe combined immunodeficiency is caused by genetic defects that profoundly impair development of the immune system.[1][1],[2][2] The condition is fatal early in life if affected infants do not receive therapy to restore immune function in ...
C. Biggs, E. Haddad, T. Issekutz, C. Roifman, S. Turvey   +4 more
semanticscholar   +1 more source

Approach to the child with recurrent infections

Journal of Family and Community Medicine, 2009
Children with a history of recurrent, severe, or unusual infections present a diagnostic challenge. It is important to maintain a high index of suspicion for the diagnosis of immunodeficiency, for early diagnosis and treatment can improve outcome ...
Suzan A AlKhater
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The history and evolution of the clinical effectiveness of haemophilia type a treatment: a systematic review. [PDF]

, 2012
First evidence of cases of haemophilia dates from ancient Egypt, but it was when Queen Victoria from England in the 19th century transmitted this illness to her descendants, when it became known as the "royal disease".
A Aleem, A Farrugia, A Miners, A Mocroft, AL Dunn, BA Konkle, BL Evatt, BM Feldman, CA Lee, CL Poel Van der, Claudia P. Casas, D Dimichele, D Dimichele, E Berntorp, E Berntorp, E Santagostino, Hector E. Castro, J Astermark, J Goudemand, J Oldenburg, J Stachnik, J Tusell, J Wight, Juan David Rueda, K Porter, L Valentino, L Valentino, LM Aledort, M Carcao, M Carcao, M Depka Von, M Franchini, M Lloyd, M Makris, María Fernanda Briceño, MD Carcao, MV Ragni, P Petrini, PM Mannucci, PM Mannucci, R Prabhu, S Royal, SA Larsson, SC Darby, SC Gouw, T Wong, TL Chorba, VS Blanchette, WK Hoots   +48 more
core   +2 more sources

The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions

Journal of Allergy and Clinical Immunology, 2022
C. Dvorak, Elie Haddad, J. Heimall, E. Dunn, M. Cowan, S. Pai, N. Kapoor, L. Satter, R. Buckley, R. O'reilly, S. Chandra, J. Bednarski, O. Williams, Ahmad Rayes, T. Moore, C. Ebens, B. D. Dávila Saldaña, A. Petrovič, Deepak Chellapandian, G. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, S. Chandrakasan, H. Eissa, Fred D Goldman, E. Shereck, V. Aquino, K. Desantes, Lisa M. Madden, H. Miller, Lolie C. Yu, Larisa Broglie, A. Gillio, Ami J. Shah, A. Knutsen, Jeffrey P. Andolina, A. Joshi, P. Szabolcs, Malika Kapadia, Caridad Martinez, Roberta E Parrot, K. Sullivan, S. Prockop, R. Abraham, M. Thakar, J. Leiding, D. Kohn, M. Pulsipher, Linda M. Griffith, L. Notarangelo, J. Puck   +50 more
semanticscholar   +1 more source

Stem Cell Transplantation for Treatment of Primary Immunodeficiency Disorders

Iranian Journal of Allergy, Asthma and Immunology, 2005
Primary Immunodeficiencies constitute a group of highly complex congenital disorders most of which are characterized by a very poor prognosis. Allogeneic hematopoietic stem cell transplantation (HSCT) has become an established curative treatment approach
Susanna M. Müller Wilhelm Friedrich
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