Results 161 to 170 of about 15,127 (297)
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia [PDF]
, 2002 Sergio Massayuki Tani +6 more
openalex +1 more source
X-linked agammaglobulinemia: clinical and immunologic evaluation of six patients
The Turkish Journal of Pediatrics, 1990 The clinical and immunologic features of six patients with X-linked agammaglobulinemia (XLA) are presented. The most common presenting manifestations were respiratory and gastrointestinal tract infections.
F Ersoy, O Sanal, I Tezcan, A I Berkel
doaj
A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase
The Turkish Journal of Pediatrics, 2006 X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the
Lütfiye Mesci +5 more
doaj
Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia [PDF]
, 2004 Karen Morwood +5 more
openalex +1 more source
Two case reports of B-cell lymphopenia associated with <i>IGLL1</i> variants identified through newborn screening in Ukraine. [PDF]
Front PediatrBoyarchuk O +5 more
europepmc +1 more source
Immunodeficiency Diseases and Tumor Immunobiology [PDF]
, 1974 Abramoff, Peter A., Duquesnoy, Rene J.
core +1 more source