Results 21 to 30 of about 372,823 (284)

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

Successful bone marrow transplantation in a patient with Omenn syndrome, a rare variant of severe combined immunodeficiency syndrome: A case report. [PDF]

Clin Case Rep
Khan U, Umer M, Muhammad A, Iltaf A, Nashwan AJ.   +4 more
europepmc   +3 more sources

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

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

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

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

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

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