Hematopoietic stem cell transplantation for primary immunodeficiency.

Primary immunodeficiencies, also commonly called inborn errors of immunity (IEI), are commonly due to developmental or functional defects in peripheral blood cells derived from hematopoietic stem cells. In light of this, for the past 50 years, hematopoietic stem cell transplantation (HSCT) has been used as a definitive therapy for IEI. The fields of both clinical immunology and transplantation medicine have had significant advances.

A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.

Purpose: Biallelic loss-of-function variants in IKBKB cause severe combined immunodeficiency. We describe a case of autoimmunity and autoinflammation in a male infant with a heterozygous gain-of-function (GOF) IKBKB variant.

Methods: Case report and review of the literature.

Genetic obstacles to developing and tolerizing human B cells.

Early in development, B cells explosively diversify B-cell receptors (BCRs) to recognize a wide variety of microbial antigens. A variety of developmental and tolerance checkpoints are subsequently deployed at later developmental stages to purge useless or potentially dangerous autoreactive B-cell clones. Once B cells recognize cognate antigens within secondary lymphoid tissues, their BCRs are genetically modified to increase the specificity and strength of antigen binding.

SIRT2 Expression Is Higher in Uveal Melanoma than In Ocular Melanocytes.

Purpose: Sirtuins (SIRTs) are the family of proteins associated with the cell cycle and that correlate with cancer development and progression. SIRTs have never been studied in uveal melanocytes. The aim of this study is to characterize the expression of SIRT2 in uveal melanoma (UM) cases and compare it with the expression of SIRT2 in melanocytes of the uveal tract of normal human eyes (NHE).

Post-transplant liver function score as an early surrogate marker of long-term outcome.

Background: Currently, there is no universally accepted method to evaluate liver function post-orthotopic liver transplant (OLTx) and there are no early surrogate function markers to assess the impact of perioperative interventions in trial settings.

Material And Methods: In total, 495 patients were included in the study. On multivariate analysis, PTLF score, defined as normal (score <4) or dysfunctional (score ≥ 4), was the only significant variable for determining significant complications (P=0.