Results 11 to 20 of about 102,336 (247)

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

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

Base editing: a novel cure for severe combined immunodeficiency [PDF]

Signal Transduction and Targeted Therapy, 2023
Teng-Cheong Ha, Michael Morgan, Axel Schambach   +2 more
doaj   +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

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

Severe combined immunodeficiency—an update

Annals of the New York Academy of Sciences, 2015
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life‐threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency.
CIRILLO, EMILIA, GIARDINO, GIULIANA, GALLO, VERA, D'ASSANTE, ROBERTA, GRASSO, FIORENTINO, Romano, Roberta, Di Lillo, Cristina, Galasso, Giovanni, PIGNATA, CLAUDIO   +8 more
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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

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