title: Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; evidence of intact dendritic cell development and TLR responses.
abstract: We report for the first time monozygous twins with a microdeletion syndrome involving genes coding for Bruton's tyrosine kinase (Btk) and deafness-dystonia peptide 1 (DDP1), and two other genes. Apart from its essential role in B cell development, Btk is indicated to affect signaling mediated by toll like receptors (TLRs) and development of dendritic cells (DCs) but results are conflictive. The twins revealed normal numbers of plasmacytoid and myeloid DCs (pDCs and mDCs). Moreover, BTK null cells from these patients exhibited robust responses to TLR agonists, normal natural killer (NK) cell activity, and normal pDC functions.
  
  
  CONCLUSIONS
  Our results do not indicate the essential role of Btk in TLR signaling and DC development.
authors.affiliation: Department of Pediatrics, Division of Pulmonary, Allergy, Immunology, and Infectious Diseases, UMDNJ-New Jersey Medical School, Newark, NJ 07101-1709, USA. jyanouha@umdnj.edu
authors.forename: Harumi
authors.initials: H
authors.lastname: Jyonouchi
authors.forename: Lee
authors.initials: L
authors.lastname: Geng
authors.forename: Gökçe A
authors.initials: GA
authors.lastname: Törüner
authors.forename: Kavita
authors.initials: K
authors.lastname: Vinekar
authors.forename: Di
authors.initials: D
authors.lastname: Feng
authors.forename: Patricia
authors.initials: P
authors.lastname: Fitzgerald-Bocarsly
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D002454:Cell Differentiation; D002648:Child; D016207:Cytokines / Q000097:blood; D003638:Deafness / Q000235:genetics*; D003713:Dendritic Cells / Q000502:physiology*; D004421:Dystonia / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D011505:Protein-Tyrosine Kinases / Q000172:deficiency / Q000235:genetics*; D013577:Syndrome; D051193:Toll-Like Receptors / Q000819:agonists / Q000235:genetics*; D014430:Twins, Monozygotic
chemical_list: D016207:Cytokines; D051193:Toll-Like Receptors; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human