X—linked agammaglobulinemia (XLA, OMIM #300755) is a primary immunodeficiency disorder caused by pathogenic variations in the BTK gene, characterized failure of development and maturation B lymphocytes. The estimated prevalence worldwide 1 190,000 male births. Recently, genome sequencing has been widely used difficult to diagnose familial cases. We report large Indian family suffering from XLA ...

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also some polymorphisms and site-directed...

Patients with X-linked agammaglobulinemia (XLA) are protected for the first few months of life by maternal antibody, which is actively transported across the placenta during the last months of pregnancy (1). Patients do not typically present clinically with infection until after 6 months of age, when the infant’s maternally derived antibody level approaches zero (2). After the diagnosis, treatm...

The doped NaNbO3 ceramics of (1−x)NaNbO3–xLa(Nb1/3Mg2/3)O3 were prepared by conventional solid state method, and then the dielectric, phase transition energy storage performances investigated. X-ray diffraction results showed a from orthorhombic to rhombohedral occurred with increase x. introduction additives induced first-order anti-ferroelectric decrease temperatures. As result, an enhanced r...

BACKGROUND AND PURPOSE New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). METHODS Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Her...

Bruton's tyrosine kinase (Btk) is essential for normal B-cell receptor signalling. The lack of expression of functional Btk in humans leads to the B-cell deficiency X-linked agammaglobulinaemia (XLA). We report here that Btk is also important for signalling via the collagen receptor glycoprotein VI (GPVI) in platelets. GPVI is coupled to the Fc receptor gamma chain (FcRgamma). The FcRgamma-chai...

X-linked agammaglobulinemia (XLA) is one of the most frequent inherited immunodeficiency diseases in man and is characterized by an almost complete arrest of B cell differentiation at the pre-B cell stage. The gene defective in XLA encodes the cytoplasmic signaling molecule Bruton's tyrosine kinase (Btk). Next to the CBA/N strain of mice, carrying a single amino acid substitution mutation in th...