Results 21 to 30 of about 287,217 (298)

X-Linked Severe Combined Immunodeficiency

Definitions, 2020
X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells ...
Larry W. Moreland
semanticscholar   +1 more source

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

Oman 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, Sanjeewani Weerakoon, Jalila Mohsin, Hussein Al Mashayakhi, Khawater Ahmed, Amal Al Maani, Khuloud Aboqusida, Nashat Al Sukaiti   +7 more
doaj   +1 more source

Current Approach to Primary Immunodeficiency Diseases

Southern 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

Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data

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, Maartje Blom, Mirjam van der Burg, Robbert G. M. Bredius, Catharina P. B. Van der Ploeg   +4 more
doaj   +1 more source

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an
J. Strand, Kiran A. Gul, H. C. Erichsen, E. Lundman, Mona C. Berge, A. K. Trømborg, L. K. Sørgjerd, M. Ytre-Arne, Silje Hogner, Ruth Halsne, H. J. Gaup, L. Osnes, G. B. Kro, H. Sorte, L. Mørkrid, A. Rowe, T. Tangeraas, Jens Jørgensen, C. Alme, Trude E. H. Bjørndalen, A. Rønnestad, A. Lang, T. Rootwelt, J. Buechner, Torstein Øverland, T. Abrahamsen, R. Pettersen, A. Stray-Pedersen   +27 more
semanticscholar   +1 more source

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

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, Mohammad Keramatipour, Sarina Ansari, Samin Sharafian, Arezou Karamzade, Marzieh Tavakol   +5 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, Bahareh Abd-Nikfarjam, Amirhosein Maali, Saeid Abroun, Farshad Foroughi, Sasan Ghaffari, Mehdi Azad   +6 more
doaj   +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, Lucila Akune Barreiros, Juliana Themudo Lessa Mazzucchelli, Sonia Marchezi Hadachi, Laura Maria de Figueiredo Ferreira Guilhoto, Ana Lúcia Acquesta, Isabel Rugue Genov, Silvia Maia Holanda, Regina Sumiko Watanabe Di Gesu, Ana Lucia Goulart, Amélia Miyashiro Nunes dos Santos, Newton Bellesi, Beatriz Tavares Costa‐Carvalho, Antonio Condino‐Neto   +13 more
doaj   +5 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, Julia Yu-Yun Lee, Sheau-Chiou Chao   +2 more
doaj   +1 more source