Results 1 to 10 of about 178,079 (198)

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.
Sajan Sinha   +3 more
doaj   +3 more sources

Severe combined immunodeficiency—an update [PDF]

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   +5 more sources

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.
Rajni Kumrah   +8 more
doaj   +3 more sources

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

open access: yesMicroorganisms, 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   +4 more
doaj   +2 more sources

Lymphedema in patients with X-linked severe combined immunodeficiency [PDF]

open access: yesJournal 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   +7 more
doaj   +2 more sources

Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease [PDF]

open access: yesCase 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

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

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

open access: yesSignal Transduction and Targeted Therapy, 2023
Teng-Cheong Ha   +2 more
doaj   +2 more sources

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

open access: yesPediatric 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   +4 more
doaj   +1 more source

BENEFITS, CHALLENGES AND PROSPECTS OF NEWBORN SCREENING FOR PRIMARY IMMUNODEFICIENCY

open access: yesArchives 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   +3 more
doaj   +1 more source

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