Results 31 to 40 of about 178,738 (298)

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

Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. [PDF]

, 2017
BackgroundThe carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.Hypothesis ...
Aleman, M, Finno, CJ, Penedo, MCT, Weich, K   +3 more
core   +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

Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement [PDF]

, 2014
Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients
AA Bousfiha, B Gathmann, B Gathmann, B Piqueras, B Seymour, C Casulo, C Wehr, DF Florescu, E Becerra, E Castigli, ES Resnick, FA Bonilla, G Gunther, H Chapel, H Chapel, H Griffiths, Hilary J. Longhurst, HM Chapel, I De La Torre, I Quinti, J Blore, J Shortt, JA Freeman, JD Edgar, John Dempster, JS Orange, JS Orange, K Warnatz, K Warnatz, L Mouthon, Lorena Lorenzo, M Lucas, M Makatsori, M Yomota, Matthaios Speletas, Matthew Buckland, ME Conley, ME Rose, MJ Boumans, N Ozaras, N Venhoff, NH Yip, P Bright, P McLaughlin, P Wood, R Herriot, S Baris, S Bernatsky, S Molica, Sai S. Duraisingham, Sofia Grigoriadou, SS Duraisingham, T Kawano, U Salzer, W Al-Herz, W Strober   +55 more
core   +8 more sources

Absence of ZAP-70 prevents signaling through the antigen receptor on peripheral blood T cells but not on thymocytes. [PDF]

, 1995
Recently, a severe combined immunodeficiency syndrome with a deficiency of CD8+ peripheral T cells and a TCR signal transduction defect in peripheral CD4+ T cells was associated with mutations in ZAP-70.
Gelfand, EW, Kadlecek, TA, Mazer, BD, Weinberg, K, Weiss, A   +4 more
core   +2 more sources

Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency

Journal of Pediatric Critical Care, 2017
Cytomegalovirus (CMV) retinitis is a marker of severe cellular immunodeficiency. Severe combined immunodeficiency (SCID) must be considered in infants presenting with CMV retinitis in a non-HIV setting.
H S Vinayaka, Tummala Sujith Kumar, G V Basavaraj, Sagar Bhattad   +3 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

A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report

Journal of Medical Case Reports, 2009
Introduction About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase.
Hellani Ali, Almassri Nidal, Abu-Amero Khaled K   +2 more
doaj   +1 more source