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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

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   +4 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

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

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

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

Disseminated BCG Infection in Immunocompromised Child: A Case Report [PDF]

Pediatric Infectious Disease, 2023
Bacillus Calmette-Guérin (BCG) is a live bacterial vaccine of Mycobacterium bovis to prevent tuberculosis (TB). It is given at birth or as early as possible according to the national immunization schedule. Usually, BCG is well tolerated.
H Chandrashekar, Basavaraja Gangasamudra Veerappa, Nijaguna Nangundappa, Prahalad Kumar Appadorai, Sanjay K Shivappa   +4 more
doaj   +1 more source

BENEFITS, CHALLENGES AND PROSPECTS OF NEWBORN SCREENING FOR PRIMARY IMMUNODEFICIENCY

Archives of the Balkan Medical Union, 2021
More than ten years of implementation of newborn screening for severe combined immunodeficiency (SCID) using a T-cell receptor excision circle (TREC) and in recent years the TREC/ kappa-deleting recombination excision circle (KREC) assay have shown a ...
Oksana BOYARCHUK, Tetyana HARIYAN, Nataliia YAREMA, Mariya KINASH   +3 more
doaj   +1 more source

Diagnosis of severe combined immunodeficiency [PDF]

Journal of Clinical Pathology, 2001
Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and ...
Gennery AR, Cant AJ
openaire   +3 more sources