Results 11 to 20 of about 372,823 (284)

Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study [PDF]

Journal of Clinical Immunology, 2021
Hematopoietic cell transplantation (HCT) is a curative therapy for patients with severe combined immunodeficiency (SCID). Here, we conducted a nationwide study to assess the outcome of SCID patients after HCT in Japan.
Satoshi Miyamoto, K. Umeda, Mio Kurata, A. Nishimura, M. Yanagimachi, M. Ishimura, Maho Sato, T. Shigemura, Motohiro Kato, Y. Sasahara, A. Iguchi, T. Koike, Yoshiyuki Takahashi, M. Kajiwara, M. Inoue, Y. Hashii, H. Yabe, Koji Kato, Y. Atsuta, K. Imai, T. Morio   +20 more
semanticscholar   +2 more sources

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Frontiers in Immunology, 2019
Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of
E. Cirillo, C. Cancrini, C. Azzari, S. Martino, B. Martire, A. Pession, A. Tommasini, S. Naviglio, A. Finocchi, R. Consolini, P. Pierani, I. d'Alba, M. Putti, A. Marzollo, G. Giardino, Rosaria Prencipe, F. Esposito, F. Grasso, Alessia Scarselli, G. Di Matteo, Enrico Attardi, S. Ricci, D. Montin, F. Specchia, F. Barzaghi, M. Cicalese, G. Quaremba, V. Lougaris, S. Giliani, F. Locatelli, P. Rossi, A. Aiuti, R. Badolato, A. Plebani, C. Pignata   +34 more
semanticscholar   +2 more sources

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

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

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

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

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