Results 11 to 20 of about 180,819 (342)

Screening for severe combined immunodeficiency in neonates

Clinical Epidemiology, 2013
Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2 1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA Abstract: Severe combined immunodeficiency (SCID) is a ...
Kelly BT, Tam JS, Verbsky JW, Routes JM
doaj   +1 more source

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights [PDF]

Frontiers in Immunology, 2017
Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth.
Erez Rechavi, Atar Lev, Amos J. Simon, Tali Stauber, Suha Daas, Talia Saraf-Levy, Arnon Broides, Arnon Broides, Amit Nahum, Amit Nahum, Nufar Marcus, Nufar Marcus, Suhair Hanna, Suhair Hanna, Polina Stepensky, Polina Stepensky, Ori Toker, Ori Toker, Ilan Dalal, Ilan Dalal, Ilan Dalal, Ilan Dalal, Amos Etzioni, Amos Etzioni, Shlomo Almashanu, Raz Somech, Raz Somech, Raz Somech   +27 more
doaj   +2 more sources

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report. [PDF]

Cureus
Krasnanska G, Blandova G, Baldovic M, Andrejkova M, Konecny M.   +4 more
europepmc   +3 more sources

A case report of Omenn syndrome in siblings

Journal 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, Monika Wójtowicz-Marzec, Monika Dobrowolska, Anna Kwaśniewska   +3 more
doaj   +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

Frontiers 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, Wujun Jiang, Zhongqin Jin, Xueqian Wang, Xiaoxiang Song, Shan Huang, Min Zhang, Huigang Lu   +7 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   +14 more sources

Advances and applications of genome-edited animal models for severe combined immunodeficiency. [PDF]

Zool Res
Zheng X, Huang CH, Yan S, Rong MD.
europepmc   +3 more sources

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

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]

, 2013
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core   +2 more sources

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