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Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
Tyrosine kinase 2 (Tyk2) is a nonreceptor tyrosine kinase that belongs to the Janus kinase (Jak) family. Here we identified a homozygous Tyk2 mutation in a patient who had been clinically diagnosed… Expand
A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes
FOXP3/Scurfin, a member of forkhead/winged-helix proteins, is involved in the regulation of T-cell activation, and essential for normal immune homeostasis. The FOXP3/Scurfin gene is located on… Expand
CD25+CD4+ T cells in human cord blood: an immunoregulatory subset with naive phenotype and specific expression of forkhead box p3 (Foxp3) gene.
OBJECTIVE To address the role of cord blood (CB) CD25+CD4+ T cells, the gene expressions and function of this subset were analyzed. MATERIALS AND METHODS CD25+CD4+ T cells fractionated from CB of… Expand
An Integrative Model of Cellular States, Plasticity, and Genetics for Glioblastoma
Diverse genetic, epigenetic, and developmental programs drive glioblastoma, an incurable and poorly understood tumor, but their precise characterization remains challenging. Here, we use an… Expand
Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan
Acute disseminated encephalomyelitis (ADEM) has recently been studied in several countries owing to the development and wide spread use of imaging technology, but few epidemiological studies of… Expand
Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity
- Cheng-Lung Ku, H. von Bernuth, +34 authors J. Casanova
- Biology, Medicine
- The Journal of experimental medicine
- 1 October 2007
Human interleukin (IL) 1 receptor–associated kinase 4 (IRAK-4) deficiency is a recently discovered primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR)… Expand
Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated… Expand
MLL2 and KDM6A mutations in patients with Kabuki syndrome
- N. Miyake, E. Koshimizu, +40 authors N. Niikawa
- Biology, Medicine
- American journal of medical genetics. Part A
- 1 September 2013
Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral… Expand
A new scoring system for computed tomography of the chest for assessing the clinical status of bronchopulmonary dysplasia.
OBJECTIVE To develop a new scoring system for computed tomography (CT) of the chest for assessing the clinical status of patients with bronchopulmonary dysplasia (BPD) in comparison with a modified… Expand
Long-term use of peripherally inserted central venous catheters for cancer chemotherapy in children
- A. Matsuzaki, A. Suminoe, Y. Koga, Miho Hatano, S. Hattori, T. Hara
- Supportive Care in Cancer
- 1 February 2006
BackgroundPeripherally inserted central venous catheters (PICCs) have been increasingly used in pediatric patients. However, little is known about the incidence and risk of complications when using… Expand