Results 11 to 20 of about 5,770,503 (368)
Severe Combined Immunodeficiency
Rare Diseases of the Immune SystemCitation: '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.
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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 +8 more
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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 +3 more
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Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Allergy. European Journal of Allergy and Clinical Immunology, 2021 Biallelic loss‐of‐function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV‐related smooth muscle tumors. Clinical and immunological characterizations of the disease with long‐term
Burcu Kolukısa +35 more
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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.
Justiz-Vaillant AA +4 more
europepmc +2 more sources
Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis [PDF]
Frontiers in ImmunologyIntroductionITPR3 encodes a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca2+ channel on the endoplasmic reticulum (ER) membrane responsible for ER Ca2+ release.
Lang Yu +17 more
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Is Cauda Equina Involvement Related to BK Virus in Patients with Combined Immunodeficiency? [PDF]
Indian Journal of Radiology and ImagingThe BK virus, an unenveloped double-stranded DNA virus, infects up to 90% of the population, The virus often remains dormant but can reactivate and cause illness under conditions of impaired cellular immunity.
Gamze Sonmez +4 more
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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
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Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice [PDF]
Journal of Allergy and Clinical Immunology, 2018 Delphine Bouis +16 more
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Jornal de Pediatria, 2021 Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies.
Carolina Sanchez Aranda +2 more
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