Results 11 to 20 of about 4,110,972 (276)

Severe Combined Immunodeficiency—Classification, Microbiology Association and Treatment [PDF]

Microorganisms, 2023
Severe combined immunodeficiency (SCID) is a primary inherited immunodeficiency disease that presents before the age of three months and can be fatal.
Angel A. Justiz-Vaillant, Darren Gopaul, Patrick Eberechi Akpaka, Sachin Soodeen, Rodolfo Arozarena Fundora   +4 more
doaj   +5 more sources

Genetics of severe combined immunodeficiency

Genes and Diseases, 2020
Severe Combined Immunodeficiency (SCID) is an inherited group of rare, life-threatening disorders due to the defect in T cell development and function.
Rajni Kumrah, Pandiarajan Vignesh, Pratap Patra, Ankita Singh, Gummadi Anjani, Poonam Saini, Madhubala Sharma, Anit Kaur, Amit Rawat   +8 more
doaj   +5 more sources

Screening for severe combined immunodeficiency in neonates

Clinical Epidemiology, 2013
Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2 1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA Abstract: Severe combined immunodeficiency (SCID) is a ...
Kelly BT, Tam JS, Verbsky JW, Routes JM
doaj   +6 more sources

Severe combined immunodeficiency

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2021
5 month old female baby presented with cough followed by respiratory distress and not gaining weight. There was no history of fever, diarrhea or recurrent infections. Her elder brother died due to respiratory illness at the age of 8 months.
Sajan Sinha, Sayantani Nandi, Mrinal Kanti Das, Suprit Basu   +3 more
doaj   +3 more sources

Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data

International Journal of Neonatal Screening, 2021
Although several countries have adopted severe combined immunodeficiency (SCID) into their newborn screening (NBS) program, other countries are still in the decision process of adding this disorder in their program and finding the appropriate screening ...
M. Elske van den Akker-van Marle, Maartje Blom, Mirjam van der Burg, Robbert G. M. Bredius, Catharina P. B. Van der Ploeg   +4 more
doaj   +3 more sources

Severe combined immunodeficiency—an update [PDF]

Annals of the New York Academy of Sciences, 2015
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life‐threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency.
CIRILLO, EMILIA, GIARDINO, GIULIANA, GALLO, VERA, D'ASSANTE, ROBERTA, GRASSO, FIORENTINO, Romano, Roberta, Di Lillo, Cristina, Galasso, Giovanni, PIGNATA, CLAUDIO   +8 more
openaire   +4 more sources

Lymphedema in patients with X-linked severe combined immunodeficiency [PDF]

Journal of Allergy and Clinical Immunology: Global
Background: IL2RG and JAK3 mutations cause T-cell–negative, B-cell–positive, natural killer cell–negative severe combined immunodeficiency (SCID). Cell therapies such as hematopoietic stem cell transplantation (or gene therapy for IL2RG deficiency) can ...
Filippo Consonni, MD, Suk See De Ravin, MD, PhD, Stephane Vignes, MD, Virginie Courteille, PhD, Marina Cavazzana, MD, PhD, Laureline Berteloot, MD, PhD, Alain Fischer, MD, PhD, Bénédicte Neven, MD, PhD   +7 more
doaj   +2 more sources

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights

Frontiers in Immunology, 2017
Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth.
Erez Rechavi, Atar Lev, Amos J. Simon, Tali Stauber, Suha Daas, Talia Saraf-Levy, Arnon Broides, Arnon Broides, Amit Nahum, Amit Nahum, Nufar Marcus, Nufar Marcus, Suhair Hanna, Suhair Hanna, Polina Stepensky, Polina Stepensky, Ori Toker, Ori Toker, Ilan Dalal, Ilan Dalal, Ilan Dalal, Ilan Dalal, Amos Etzioni, Amos Etzioni, Shlomo Almashanu, Raz Somech, Raz Somech, Raz Somech   +27 more
doaj   +3 more sources

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
doaj   +2 more sources

Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease [PDF]

Case Reports in Medicine
We report a case of T-B+NK+ severe combined immunodeficiency disease (SCID) caused by IL2RG gene mutation (NM_000206.3 [IL2RG]: c.925-2A > G). The patient, a 2-month-old male, experienced multiple infections and decreased white blood cells in the early ...
Wenya Qian, Min Wu, Guanling Wang
doaj   +2 more sources