Biomaterial Database

X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis. 2015

T Patiroglu, and H H Akar, and Z Gunduz, and S Sisko, and Y Y Ng

Departments of Paediatric Immunology , Kayseri , Turkey.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011505	Protein-Tyrosine Kinases	Protein kinases that catalyze the PHOSPHORYLATION of TYROSINE residues in proteins with ATP or other nucleotides as phosphate donors.	Tyrosine Protein Kinase,Tyrosine-Specific Protein Kinase,Protein-Tyrosine Kinase,Tyrosine Kinase,Tyrosine Protein Kinases,Tyrosine-Specific Protein Kinases,Tyrosylprotein Kinase,Kinase, Protein-Tyrosine,Kinase, Tyrosine,Kinase, Tyrosine Protein,Kinase, Tyrosine-Specific Protein,Kinase, Tyrosylprotein,Kinases, Protein-Tyrosine,Kinases, Tyrosine Protein,Kinases, Tyrosine-Specific Protein,Protein Kinase, Tyrosine-Specific,Protein Kinases, Tyrosine,Protein Kinases, Tyrosine-Specific,Protein Tyrosine Kinase,Protein Tyrosine Kinases,Tyrosine Specific Protein Kinase,Tyrosine Specific Protein Kinases
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000077329	Agammaglobulinaemia Tyrosine Kinase	A non-receptor tyrosine kinase that is essential for the development, maturation, and signaling of B-LYMPHOCYTES. It contains an N-terminal zinc finger motif and localizes primarily to the PLASMA MEMBRANE and nucleus of B-lymphocytes. Mutations in the gene that encode this kinase are associated with X-LINKED AGAMMAGLOBULINEMIA.	B Cell Progenitor Kinase,Bruton's Tyrosine Kinase,Bruton Tyrosine Kinase,Brutons Tyrosine Kinase,Kinase, Agammaglobulinaemia Tyrosine,Kinase, Bruton's Tyrosine,Tyrosine Kinase, Agammaglobulinaemia,Tyrosine Kinase, Bruton's
D000361	Agammaglobulinemia	An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.	Hypogammaglobulinemia,Agammaglobulinemias,Hypogammaglobulinemias
D001168	Arthritis	Acute or chronic inflammation of JOINTS.	Oligoarthritis,Polyarthritis,Arthritides,Oligoarthritides,Polyarthritides
D001171	Arthritis, Juvenile	Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.	Arthritis, Juvenile Chronic,Arthritis, Juvenile Idiopathic,Arthritis, Juvenile Rheumatoid,Childhood Arthritis,PCJIA,PJIA Polyarticular Juvenile Idiopathic Arthritis,Polyarticular Juvenile Idiopathic Arthritis,Polyarticular-Course Juvenile Idiopathic Arthritis,Still's Disease, Juvenile-Onset,Enthesitis-Related Arthritis, Juvenile,Juvenile Chronic Arthritis,Juvenile Idiopathic Arthritis,Juvenile Rheumatoid Arthritis,Juvenile-Onset Still Disease,Juvenile-Onset Stills Disease,Oligoarthritis, Juvenile,Polyarthritis, Juvenile, Rheumatoid Factor Negative,Polyarthritis, Juvenile, Rheumatoid Factor Positive,Psoriatic Arthritis, Juvenile,Still Disease, Juvenile-Onset,Systemic Arthritis, Juvenile,Arthritides, Childhood,Arthritis, Childhood,Arthritis, Juvenile Enthesitis-Related,Arthritis, Juvenile Psoriatic,Arthritis, Juvenile Systemic,Childhood Arthritides,Chronic Arthritis, Juvenile,Enthesitis Related Arthritis, Juvenile,Idiopathic Arthritis, Juvenile,Juvenile Arthritis,Juvenile Enthesitis-Related Arthritis,Juvenile Oligoarthritis,Juvenile Onset Still Disease,Juvenile Onset Stills Disease,Juvenile Psoriatic Arthritis,Juvenile Systemic Arthritis,Juvenile-Onset Still's Disease,Rheumatoid Arthritis, Juvenile,Still Disease, Juvenile Onset,Still's Disease, Juvenile Onset,Stills Disease, Juvenile-Onset