title: Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
abstract: B-cell linker (BLNK) protein is a non-redundant adaptor molecule in the signaling pathway activated by (pre) B-cell antigen receptor signals. We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. This is the first description of an enteroviral infection associated arthritis and dermatitis in a patient with BLNK deficiency.
authors.affiliation: Pediatric Division, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.
authors.forename: Adeeb
authors.initials: A
authors.lastname: NaserEddin
authors.forename: Oded
authors.initials: O
authors.lastname: Shamriz
authors.forename: Baerbel
authors.initials: B
authors.lastname: Keller
authors.forename: Raed M
authors.initials: RM
authors.lastname: Alzyoud
authors.forename: Susanne
authors.initials: S
authors.lastname: Unger
authors.forename: Paul
authors.initials: P
authors.lastname: Fisch
authors.forename: Evgenia
authors.initials: E
authors.lastname: Prus
authors.forename: Yakov
authors.initials: Y
authors.lastname: Berkun
authors.forename: Diana
authors.initials: D
authors.lastname: Averbuch
authors.forename: Avraham
authors.initials: A
authors.lastname: Shaag
authors.forename: Adel M
authors.initials: AM
authors.lastname: Wahadneh
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
authors.forename: Klaus
authors.initials: K
authors.lastname: Warnatz
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
authors.forename: Polina
authors.initials: P
authors.lastname: Stepensky
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency* / Q000235:genetics; D000361:Agammaglobulinemia / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy; D001168:Arthritis / Q000175:diagnosis / Q000209:etiology; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003872:Dermatitis / Q000175:diagnosis / Q000209:etiology; D004769:Enterovirus Infections / Q000175:diagnosis / Q000209:etiology*; D006720:Homozygote; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D009154:Mutation; D010641:Phenotype; D035781:Siblings
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C113939:B cell linker protein