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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

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   +3 more sources

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   +2 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 [PDF]

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   +2 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   +1 more source

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

Severe Combined Immunodeficiency

Citation: 'severe combined immunodeficiency' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.13674 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual ...
Justiz Vaillant AA, Mohseni M.
europepmc   +3 more sources

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report. [PDF]

Cureus
Krasnanska G, Blandova G, Baldovic M, Andrejkova M, Konecny M.   +4 more
europepmc   +3 more sources

Advances and applications of genome-edited animal models for severe combined immunodeficiency. [PDF]

Zool Res
Zheng X, Huang CH, Yan S, Rong MD.
europepmc   +3 more sources