Results 21 to 30 of about 4,110,972 (276)

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

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

A case report of Omenn syndrome in siblings

open access: yesJournal of Education, Health and Sport, 2019
The article describes a case of Omenn syndrome in neonatal period. Omenn syndrome was diagnosed in two of three children of the same parents. Both of children had skin erythroderma since birth and eosynophilia in blood tests.
Agnieszka Berendt   +3 more
doaj   +3 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

A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review

open access: yesFrontiers in Oncology, 2023
IntroductionHypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.Case presentationA teenage boy presented with colon EBV-related colon ...
Xiaoqing Zhang   +7 more
doaj   +1 more source

Thymic activity in severe combined immunodeficiency diseases

open access: yes, 1977
Thymic function was evaluated by quantitation of circulating thymic factor in patients with several forms of severe infantile immunodeficiency diseases.
Pahwa, S   +7 more
core   +4 more sources

Current Approach to Primary Immunodeficiency Diseases

open access: yesSouthern Clinics of Istanbul Eurasia, 2019
Primary immunodeficiency diseases (PIDD) are inherited disorders resulting from defects in diverse elements of the human immune system. Currently, more than 330 PIDDs have been described, and the molecular (genetic) bases for more than 320 of them are ...
Öner Özdemir
doaj   +1 more source

Disseminated Cryptosporidiosis in an Infant with Non-HIV Pediatric Immunodeficiency: First Case Report from Oman

open access: yesOman Medical Journal, 2021
Cryptosporidium is a rare but important pathogen, especially in children with immunodeficiency. Intestinal cryptosporidiosis is well described in immunocompetent and immunocompromised children, but respiratory and disseminated cryptosporidiosis in ...
Tariq AL Farsi   +7 more
doaj   +1 more source

Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists

open access: yesInternational Journal of Neonatal Screening, 2021
During the ISNS meeting “Newborn Screening for SCID ‘State of the Art’” on 26 and 27 January 2021, the topic of case definitions and related issues were discussed.
Mirjam van der Burg
doaj   +1 more source

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