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Genetics of severe combined immunodeficiency

open access: yesGenes 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. Clinical manifestations are characterised by recurrent and severe bacterial, viral, and fungal opportunistic infections that start from early infancy period.
Rajni Kumrah   +2 more
exaly   +4 more sources

severe combined immunodeficiency

open access: yes
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

Severe Combined Immunodeficiency

open access: yesMedical 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. There was accelerated reaction at BCG site.
Sajan Sinha   +3 more
openaire   +3 more sources

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

open access: yesMicroorganisms, 2023
Angel Justiz-Vaillant   +2 more
exaly   +2 more sources

Diagnosis of severe combined immunodeficiency [PDF]

open access: yesJournal 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

Severe combined immunodeficiency—an update

open access: yesAnnals 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   +8 more
openaire   +3 more sources

Severe combined immunodeficiencies (SCID) [PDF]

open access: yesClinical and Experimental Immunology, 2000
SCID consists of a group of genetic disorders characterized by a block in T lymphocyte differentiation that is variably associated with abnormal development of other lymphocyte lineages, i.e. B or NK lymphocytes or more rarely of the myeloid lineage [1,2].
openaire   +2 more sources

Prenatal exclusion of severe combined immunodeficiency [PDF]

open access: yesArchives of Disease in Childhood, 1982
By analysing leucocyte subpopulations with monoclonal antisera, we have shown that the diagnosis of severe combined immunodeficiency can be made soon after birth. The technique of staining has been adapted for small blood samples, and normal ranges of leucocyte subpopulations have been established for fetal blood taken from mid-trimester pregnancies ...
R J, Levinsky   +3 more
openaire   +2 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

open access: yesFEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

open access: yesFEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes   +3 more
wiley   +1 more source

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