Mutations of Bruton's tyrosine kinase (Btk), which is critical for B cell development and function, cause X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. Although the severity of the clinical phenotype differs between the two species, xid mice are considered useful for evaluating treatment strategies for XLA patients. Hematopoietic stem cells (HSCs; 1 ap...

About half of all subjects with common variable immune deficiency (CVID) are afflicted with inflammatory complications including hematologic autoimmunity, granulomatous infiltrations, interstitial lung disease, lymphoid hyperplasia and/or gastrointestinal inflammatory disease. The pathogenesis of these conditions is poorly understood but singly and in aggregate, these lead to significantly incr...

Mutations in the gene encoding Bruton's tyrosine kinase (btk) cause the B cell deficiency diseases X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. In vivo and in vitro studies indicate that the BTK protein is essential for B cell survival, cell cycle progression, and proliferation in response to B cell antigen receptor (BCR) stimulation. BCR stimulation ...

X-linked agammaglobulinemia (XLA) is among the most common inborn errors of immunity. The usual clinical phenotype an increased susceptibility to bacterial and enteroviral infections; however, other viral infections, which result in chronic, severe, or recurrent are being increasingly reported XLA. These include respiratory viruses, herpesviruses, hepatotropic more rarely members from astroviru...

In some patients with common variable immunodeficiency (CVID) and immunoglobulin (Ig) A deficiency (IgAD), tumor necrosis factor (TNF) family receptor transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI) gene mutations have been reported. B cells from individuals with TACI mutations do not produce IgG and IgA in response to the TACI ligand a proliferation-induc...

BACKGROUND We herein report the first case of X-linked agammaglobulinemia (XLA) that underwent allogeneic stem cell transplantation using reduced intensity conditioning (RIC). We chronologically observed the reconstitution of humoral immunity in this case. CASE PRESENTATION The patient was a 28-year-old Japanese male with XLA who previously had life-threatening infectious episodes and was ref...

persistently negative and there was no disease recurrence. Thus, the recovery from infection and C. coli clearance could not been achieved, despite several courses of antibiotics, until an attempt to sterilize the gastrointestinal tract with bacitracin/neomicyn was done. The high frequency of Campylobacter found in symptomatic and asymptomatic patients with PAD might be the result of failure to...

AIM We aimed to determine the rate of primary immune deficiency (PID) among children presenting to our immunology outpatient clinic with a history of frequent infections and with warning signs of primary immune deficiency. MATERIAL AND METHODS The files of 232 children aged between 1 and 18 years with warning signs of primary immune deficiency who were referred to our pediatric immunology out...

From experiments with purified proteins, it has been concluded that factor Xla (FXla) is inhibited in plasma mainly by a,-antitrypsin (alAT), followed by antithrombin 111 (ATIll), Cl-inhibitor (Cllnh), and a2-antiplasmin (a2AP). However, the validity of this concept has never been studied n plasma. We established the relative contribution of different inhibitors to the inactivation of FXla in h...