Results 31 to 40 of about 372,823 (284)

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

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, Hershfield, Michael S, Kohn, Donald B, Komarow, Hirsh D, Metcalfe, Dean D, Sokolic, Robert, Young, Michael   +6 more
core   +2 more sources

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

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

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, Gallo, Vera, Giardino, Giuliana, Pignata, Claudio   +3 more
core   +1 more source

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Journal of Experimental Medicine, 2020
SLP76 is a key molecule involved in the T cell signaling pathway; therefore, SLP76 deficiency can lead to a severe type of immunodeficiency. By reporting on a patient with germline mutation in SLP76, deficiency in this gene is linked, for the first time,
A. Lev, Y. Lee, Guangping Sun, Enas Hallumi, A. Simon, Keren S. Zrihen, Shiran Levy, Tal Beit Halevi, Maria Papazian, Neta Shwartz, I. Somekh, Sarina Levy-Mendelovich, B. Wolach, R. Gavrieli, Helly Vernitsky, O. Barel, Elisheva Javasky, T. Stauber, Chi A. Ma, Y. Zhang, N. Amariglio, G. Rechavi, Ayal Hendel, D. Yablonski, J. Milner, R. Somech   +25 more
semanticscholar   +1 more source

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

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, Henry Y. Lu, Bradly M. Bauman, Swadhinya Arjunaraja, Batsukh Dorjbal, Joshua D. Milner, Andrew L. Snow, Stuart E. Turvey, Stuart E. Turvey   +8 more
doaj   +1 more source

Health-Related Quality of Life in Patients with CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study [PDF]

, 2019
We assessed the health-related quality of life (HRQoL) in CVID adults receiving different schedules of immunoglobulin replacement therapy (IgRT) by intravenous (IVIG), subcutaneous (SCIG), and facilitated (fSCIG) preparations.
Agostini, Carlo, Bonanni, Livia, Carrabba, Maria, Cinetto, Francesco, Crescenzi, Ludovica, Fabio, Giovanna, Farrugia, Albert, Milito, Cinzia, Neri, Raffaella, Pecoraro, Antonio, Pulvirenti, Federica, Quinti, Isabella, Spadaro, Giuseppe, Tabolli, Stefano   +13 more
core   +2 more sources