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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   +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   +2 more sources

Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study [PDF]

Journal of Clinical Immunology, 2021
Hematopoietic cell transplantation (HCT) is a curative therapy for patients with severe combined immunodeficiency (SCID). Here, we conducted a nationwide study to assess the outcome of SCID patients after HCT in Japan.
Satoshi Miyamoto, K. Umeda, Mio Kurata, A. Nishimura, M. Yanagimachi, M. Ishimura, Maho Sato, T. Shigemura, Motohiro Kato, Y. Sasahara, A. Iguchi, T. Koike, Yoshiyuki Takahashi, M. Kajiwara, M. Inoue, Y. Hashii, H. Yabe, Koji Kato, Y. Atsuta, K. Imai, T. Morio   +20 more
semanticscholar   +2 more sources

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

Frontiers in Pediatrics, 2019
Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with ...
Mirjam van der Burg, Nizar Mahlaoui, Hubert Bobby Gaspar, Sung-Yun Pai, Sung-Yun Pai, Sung-Yun Pai   +5 more
doaj   +2 more sources

Severe Combined Immunodeficiency

Rare Diseases of the Immune System
Justiz Vaillant AA, Mohseni M.
europepmc   +3 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   +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

Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency (SCID)

Frontiers in Pediatrics, 2019
Severe Combined Immunodeficiencies (SCID) are a heterogeneous group of monogenetic diseases. We describe the typical clinical presentation of patients with SCID as well as basic principles in diagnosis and therapy by hematopoietic stem cell ...
Elie Haddad, Manfred Hoenig
doaj   +2 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   +1 more source

Base editing: a novel cure for severe combined immunodeficiency [PDF]

Signal Transduction and Targeted Therapy, 2023
Teng-Cheong Ha, Michael Morgan, Axel Schambach   +2 more
doaj   +2 more sources