Results 21 to 30 of about 180,819 (342)
International Journal of Neonatal Screening, 2021 Although several countries have adopted severe combined immunodeficiency (SCID) into their newborn screening (NBS) program, other countries are still in the decision process of adding this disorder in their program and finding the appropriate screening ...
M. Elske van den Akker-van Marle +4 more
doaj +1 more source
Severe combined immunodeficiencies (SCID) [PDF]
Clinical 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
International 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
X-linked SCID with a rare mutation
Allergy, Asthma & Clinical Immunology, 2021 Background Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different ...
Fatemeh Sadat Mahdavi +5 more
doaj +1 more source
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. [PDF]
, 2015 Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary ...
Candotti, Fabio +6 more
core +2 more sources
Omenn syndrome: a case report and review of literature
Dermatologica Sinica, 2011 Exfoliative dermatitis or erythroderma in infancy is rare. Clinicians need to be alert to the possible diagnosis of Omenn syndrome (OS), a rare form of combined immunodeficiency in infants presenting with recurrent infections, erythroderma ...
Chia-Chi Hsu +2 more
doaj +1 more source
Induced Pluripotent Stem Cell Meets Severe Combined Immunodeficiency [PDF]
Cell Journal, 2020 Severe combined immunodeficiency (SCID) is classified as a primary immunodeficiency, which is characterized by impaired T-lymphocytes differentiation. IL2RG, IL7Ralpha, JAK3, ADA, RAG1/RAG2, and DCLE1C (Artemis) are the most defective genes in SCID.
Reza Kouchaki +6 more
doaj +1 more source
Frontiers in Immunology, 2018 The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the ...
Henry Y. Lu +8 more
doaj +1 more source
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches [PDF]
, 2017 Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published.
Cirillo, Emilia +3 more
core +1 more source
Neonatal screening for severe combined immunodeficiency in Brazil
Jornal de Pediatria (Versão em Português), 2016 Objective: To apply, in Brazil, the T‐cell receptor excision circles (TRECs) quantification technique using real‐time PCR in newborn screening for severe combined immunodeficiency (SCID) and assess the feasibility of implementing it on a large scale in ...
Marilia Pyles Patto Kanegae +13 more
doaj +5 more sources