Publications by authors named "Yenhui Chang"

We report a novel variant in associated with IKAROS haploinsufficiency in a patient with familial immune thrombocytopenia (ITP). IKAROS, encoded by the gene, is a hematopoietic zinc-finger transcription factor that can directly bind to DNA. We show that the identified variant (p.

View Article and Find Full Text PDF
Article Synopsis
  • The text discusses the importance of connecting SCID symptoms to specific genetic causes, especially with advances in newborn screening and gene therapy options.
  • In western countries, X-linked IL2RG and ADA deficiency SCID are prevalent types that can be treated with gene therapy, but diagnosing genetic variants can be challenging due to their polymorphic nature and complexities in coding and non-coding regions.
  • The authors provide examples of X-linked SCID cases where initial tests did not reveal pathogenic variants, highlighting the need for further functional studies and maternal X-inactivation tests to confirm diagnosis and ensure timely eligibility for gene therapy.
View Article and Find Full Text PDF

Purpose: X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored.

Methods: We present a case report of a family with two affected patients with XLA.

View Article and Find Full Text PDF

We reported previously that pterostilbene, a natural analogue of resveratrol from blueberries, strongly suppressed lipopolysaccharide-induced up-expression of inducible NO synthase (iNOS) and cyclooxygenase-2 (COX-2) in murine macrophages. In this study, we further investigated pterostilbene's molecular mechanism of action and its anti-tumor properties. Pretreatment with pterostilbene has resulted in the reduction of 12-O-tetradecanoylphorbol-13-acetate (TPA)-induced nuclear translocation of the nuclear factor-κB (NFκB) subunits.

View Article and Find Full Text PDF

Pterostilbene, an active constituent of blueberries, is known to possess anti-inflammatory activity and also to induce apoptosis in various types of cancer cells. Here, we investigated the inhibitory effects of pterostilbene on the induction of NO synthase (NOS) and cyclooxygenase-2 (COX-2) in murine RAW 264.7 cells activated with lipopolysaccharide (LPS).

View Article and Find Full Text PDF

Pterostilbene, an active constituent of blueberries, is known to possess anti-inflammatory activity and also induces apoptosis in various types of cancer cells. Here, the effects of pterostilbene on cell viability in human gastric carcinoma AGS cells were investigated. This study demonstrated that pterostilbene was able to inhibit cell proliferation and induce apoptosis in a concentration- and time-dependent manner.

View Article and Find Full Text PDF

A synthetic 17-amino acid peptide (CKS-17) homologous to a highly conserved region of human and animal retroviral transmembrane proteins has been found to exhibit suppressive properties for numerous immune functions. It has been shown that CKS-17 causes an imbalance of human types 1 and 2 cytokines and inhibition of the immune responses of lymphocytes, monocytes, and macrophages. CKS-17 induced increased intracellular levels of cAMP, which plays an important role in regulation of cytokine biosynthesis.

View Article and Find Full Text PDF

Male BXSB mice, a mouse model of systemic lupus erythematosus, were given bone marrow transplants (BMT) at 20 wk of age using MHC-matched donor cells and nonmyeloablative conditioning (550 cGy irradiation). Transplanted mice and irradiation controls were followed for a period of 20 wk. Mice transgenic for green fluorescent protein were used as donors to allow tracking of donor cells and a determination of chimerism.

View Article and Find Full Text PDF