BLNK欠損症
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- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
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English Journal
- IRF4 deficiency leads to altered BCR signaling revealed by enhanced PI3K pathway, decreased SHIP expression and defected cytoskeletal responses.
- Budzyńska PM1,2, Niemelä M1, Sarapulov AV3, Kyläniemi MK1, Nera KP1, Junttila S4, Laiho A4, Mattila PK3, Alinikula J1, Lassila O1.
- Scandinavian journal of immunology.Scand J Immunol.2015 Jul 14. doi: 10.1111/sji.12343. [Epub ahead of print]
- The graded expression of transcription factor Interferon Regulatory Factor 4 (IRF4) regulates B cell development and is critical for plasma cell differentiation. However, the mechanisms, by which IRF4 elicits its crucial tasks, are largely unknown. To characterize the molecular targets of IRF4 in B
- PMID 26173778
- Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
- NaserEddin A1, Shamriz O, Keller B, Alzyoud RM, Unger S, Fisch P, Prus E, Berkun Y, Averbuch D, Shaag A, Wahadneh AM, Conley ME, Warnatz K, Elpeleg O, Stepensky P.
- Journal of clinical immunology.J Clin Immunol.2015 May;35(4):356-60. doi: 10.1007/s10875-015-0164-2. Epub 2015 Apr 17.
- 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
- PMID 25893637
- The autoinhibitory C-terminal SH2 domain of phospholipase C-γ2 stabilizes B cell receptor signalosome assembly.
- Wang J1, Sohn H1, Sun G2, Milner JD2, Pierce SK3.
- Science signaling.Sci Signal.2014 Sep 16;7(343):ra89. doi: 10.1126/scisignal.2005392.
- The binding of antigen to the B cell receptor (BCR) stimulates the assembly of a signaling complex (signalosome) composed initially of the kinases Lyn, spleen tyrosine kinase (Syk), and Bruton's tyrosine kinase (Btk), as well as the adaptor protein B cell linker (BLNK). Together, these proteins recr
- PMID 25227611
Related Links
- B-cell linker protein (BLNK) deficiency (OMIM #613502) is a rare primary immunodeficiency characterized by reduced serum levels of all immunoglobulin classes in the absence of peripheral B cells (peripheral B cells <2%). To date, a ...
- As stated above, BLNK-deficient mice have a block in B-cell development at the pre-B-cell stage, but the block is incomplete, and a small number of mature B cells are still present in the periphery. 23 – 26 This suggests that other
- Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
★リンクテーブル★
[★]
- 英
- BLNK deficiency
- 関
- 原発性免疫不全症
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve