Results 21 to 30 of about 102,336 (247)

Omenn syndrome: a case report and review of literature

Dermatologica Sinica, 2011
Exfoliative dermatitis or erythroderma in infancy is rare. Clinicians need to be alert to the possible diagnosis of Omenn syndrome (OS), a rare form of combined immunodeficiency in infants presenting with recurrent infections, erythroderma ...
Chia-Chi Hsu, Julia Yu-Yun Lee, Sheau-Chiou Chao   +2 more
doaj   +1 more source

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

Frontiers in Immunology, 2018
The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the ...
Henry Y. Lu, Henry Y. Lu, Bradly M. Bauman, Swadhinya Arjunaraja, Batsukh Dorjbal, Joshua D. Milner, Andrew L. Snow, Stuart E. Turvey, Stuart E. Turvey   +8 more
doaj   +1 more source

Induced Pluripotent Stem Cell Meets Severe Combined Immunodeficiency [PDF]

Cell Journal, 2020
Severe combined immunodeficiency (SCID) is classified as a primary immunodeficiency, which is characterized by impaired T-lymphocytes differentiation. IL2RG, IL7Ralpha, JAK3, ADA, RAG1/RAG2, and DCLE1C (Artemis) are the most defective genes in SCID.
Reza Kouchaki, Bahareh Abd-Nikfarjam, Amirhosein Maali, Saeid Abroun, Farshad Foroughi, Sasan Ghaffari, Mehdi Azad   +6 more
doaj   +1 more source

Neonatal screening for severe combined immunodeficiency in Brazil

Jornal de Pediatria (Versão em Português), 2016
Objective: To apply, in Brazil, the T‐cell receptor excision circles (TRECs) quantification technique using real‐time PCR in newborn screening for severe combined immunodeficiency (SCID) and assess the feasibility of implementing it on a large scale in ...
Marilia Pyles Patto Kanegae, Lucila Akune Barreiros, Juliana Themudo Lessa Mazzucchelli, Sonia Marchezi Hadachi, Laura Maria de Figueiredo Ferreira Guilhoto, Ana Lúcia Acquesta, Isabel Rugue Genov, Silvia Maia Holanda, Regina Sumiko Watanabe Di Gesu, Ana Lucia Goulart, Amélia Miyashiro Nunes dos Santos, Newton Bellesi, Beatriz Tavares Costa‐Carvalho, Antonio Condino‐Neto   +13 more
doaj   +5 more sources

Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency

Journal of Pediatric Critical Care, 2017
Cytomegalovirus (CMV) retinitis is a marker of severe cellular immunodeficiency. Severe combined immunodeficiency (SCID) must be considered in infants presenting with CMV retinitis in a non-HIV setting.
H S Vinayaka, Tummala Sujith Kumar, G V Basavaraj, Sagar Bhattad   +3 more
doaj   +1 more source

A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report

Journal of Medical Case Reports, 2009
Introduction About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase.
Hellani Ali, Almassri Nidal, Abu-Amero Khaled K   +2 more
doaj   +1 more source

A Novel Homozygous JAK3 Mutation Leading to T-B+NK– SCID in Two Brazilian Patients

Frontiers in Pediatrics, 2018
We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash.
Lucila A. Barreiros, Gesmar R. S. Segundo, Anete S. Grumach, Pérsio Roxo-Júnior, Troy R. Torgerson, Hans D. Ochs, Antonio Condino-Neto   +6 more
doaj   +1 more source

A high-quality severe combined immunodeficiency (SCID) rat bioresource.

PLoS ONE, 2022
Immunodeficient animals are valuable models for the engraftment of exogenous tissues; they are widely used in many fields, including the creation of humanized animal models, as well as regenerative medicine and oncology.
Yoshiki Miyasaka, Jinxi Wang, Kosuke Hattori, Yuko Yamauchi, Miho Hoshi, Kazuto Yoshimi, Saeko Ishida, Tomoji Mashimo   +7 more
doaj   +1 more source

Prenatal exclusion of severe combined immunodeficiency [PDF]

Archives of Disease in Childhood, 1982
By analysing leucocyte subpopulations with monoclonal antisera, we have shown that the diagnosis of severe combined immunodeficiency can be made soon after birth. The technique of staining has been adapted for small blood samples, and normal ranges of leucocyte subpopulations have been established for fetal blood taken from mid-trimester pregnancies ...
R J, Levinsky, D C, Linch, C L, Beverly, C, Rodeck   +3 more
openaire   +2 more sources

Prevalence of 21 Physician‐Defined Severe Toxicities Following Childhood Acute Lymphoblastic Leukemia Treatment: Australian Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, with an overall survival now surpassing 90% in developed countries. However, treatments are not without adverse effects. In this study, we apply the severe toxicity‐free survival (STFS) framework to determine the prevalence of 21 physician‐defined severe ...
Lane Collier, Brittany Grantham, Camilla Grud Nielsen, Louise Lundgren, Liv Andrés‐Jensen, Kjeld Schmiegelow, Chris Selman, Gareth Ball, Elyse Passmore, David A. Elliott, Rachel Conyers   +10 more
wiley   +1 more source