Results 11 to 20 of about 287,217 (298)

Newborn screening for severe combined immunodeficiency in Taiwan [PDF]

, 2017
Newborn screening (NBS) programs for severe combined immunodeficiency (SCID), the most severe type of primary immunodeficiency, are being implemented in more and more countries with every passing year.
E. Rechavi, A. Lev, T. Saraf-Levy, Amos Etzioni, S. Almashanu, R. Somech   +5 more
semanticscholar   +2 more sources

Severe combined immunodeficiency with BCG-osis by salvage therapy with allogeneic hematopoietic stem cell transplantation: cases report and literature review. [PDF]

BMC Pediatr
Jiao Y, Li Q, Chen Z, Yang L, Wang Z, Tao F, Du Y, Xu X, Li Z, Xiong H.   +9 more
europepmc   +3 more sources

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. [PDF]

New England Journal of Medicine, 2016
D. Punwani, Yong Zhang, Jason S. L. Yu, M. Cowan, Sadhna Rana, A. Kwan, Aashish N. Adhikari, C. Lizama, Bryce A. Mendelsohn, Shawn P. Fahl, Ajithavalli Chellappan, Rajgopal Srinivasan, S. Brenner, D. Wiest, J. Puck   +14 more
semanticscholar   +2 more sources

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency. [PDF]

Genes Dis
Ding F, Zhang H, Liu X, Lei L, Zhang H, Liu Z, Fang M, Lu S.   +7 more
europepmc   +2 more sources

BENEFITS, CHALLENGES AND PROSPECTS OF NEWBORN SCREENING FOR PRIMARY IMMUNODEFICIENCY

Archives of the Balkan Medical Union, 2021
More than ten years of implementation of newborn screening for severe combined immunodeficiency (SCID) using a T-cell receptor excision circle (TREC) and in recent years the TREC/ kappa-deleting recombination excision circle (KREC) assay have shown a ...
Oksana BOYARCHUK, Tetyana HARIYAN, Nataliia YAREMA, Mariya KINASH   +3 more
doaj   +1 more source

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

Disseminated BCG Infection in Immunocompromised Child: A Case Report [PDF]

Pediatric Infectious Disease, 2023
Bacillus Calmette-Guérin (BCG) is a live bacterial vaccine of Mycobacterium bovis to prevent tuberculosis (TB). It is given at birth or as early as possible according to the national immunization schedule. Usually, BCG is well tolerated.
H Chandrashekar, Basavaraja Gangasamudra Veerappa, Nijaguna Nangundappa, Prahalad Kumar Appadorai, Sanjay K Shivappa   +4 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   +2 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

Validation on the First-Tier Fully Automated High-Throughput <i>SMN1</i>, <i>SMN2</i>, TREC, and <i>RPP30</i> Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency. [PDF]

Int J Neonatal Screen
Mak CM, Ho TYC, Yip MK, Song FE, Tam RCM, Yu LWY, Ke AA, Law ECY, Chan TCH, Yeung MCW.   +9 more
europepmc   +2 more sources