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99 Possible Causes for tacy

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  • Common Variable Immunodeficiency

    Aliases Antibody deficiency due to TACI defect CVID/CVID2 Hypogammaglobulinemia due to TACI deficiency IgA deficiency IGAD2 Immunoglobulin A deficiency Selective IgA deficiency[ltd.aruplab.com] Although the mutant TACI molecules do not inhibit ligand binding by the wild-type TACI, downstream NFkB signaling is blocked by this association.[doi.org] […] two mutated copies of TACI are not ( 9 ).[jci.org]

  • Common Variable Immunodeficiency Type 4

    Aliases Antibody deficiency due to TACI defect CVID/CVID2 Hypogammaglobulinemia due to TACI deficiency IgA deficiency IGAD2 Immunoglobulin A deficiency Selective IgA deficiency[ltd.aruplab.com] Many people with CVID carry a DNA variation called a polymorphism in a gene known as TACI .[ipia.info] Mutations in a cell receptor (TACI) needed for normal growth and regulation of B-cells have also been found in about 8% of patients with CVID.[primaryimmune.org]

  • Selective IgA Immunodeficiency

    Some patients have mutations in the TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) gene.[msdmanuals.com] TACI *, carrying one or more TACI missense mutations. Red, 0–1 bp microhomology; blue, 2–7 bp microhomology; orange, 8 bp microhomology.[doi.org] The CVID group carrying TACI mutations tested the hypothesis that S joint phenotypes would differ between patients carrying TACI and MSH5 alleles.[doi.org]

  • Autosomal Recessive Monocyte and Dendritic Cell Deficiency

    TACI gene variants can also display incomplete penetrance, indicating that not all carriers of TACI gene variants develop the disease phenotype.()7) TACI gene variants appear[mayomedicallaboratories.com] Immunoglobulin A, Selective Deficiency Of, TACI-Related IGAD2 609529 Genetic Test Registry Incontinentia Pigmenti Bloch-Sulzberger Syndrome Incontinentia Pigmenti, Familial[ukgtn.nhs.uk] Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37(8):820-828. DOI: [ Links ] 57.[scielo.org.mx]

  • Tonsillar Hypertrophy

    Abstract TNFRSF13B/TACI defects have been associated with CVID pathogenesis and/or phenotype, especially the development of benign lymphoproliferation and autoimmunity.[ncbi.nlm.nih.gov] Our purpose was to investigate the role of TNFRSF13B/TACI defects in the pathogenesis of two common lymphoproliferative disorders, namely, sarcoidosis and tonsillar hypertrophy[ncbi.nlm.nih.gov] Two out of 19 TH patients without infectious cause (10.5%) and 2 patients with sarcoidosis (2.8%) displayed rare TNFRSF13B/TACI defects (I87N, L69TfsX12, E36L, and R202H,[ncbi.nlm.nih.gov]

  • Smith-Magenis Syndrome

    OBJECTIVE: We examined TACI protein expression and function in patients with SMS to define the role of TACI haploinsufficiency in B-cell function.[ncbi.nlm.nih.gov] Our data are consistent with potential loss of function for the BAFF (B cell-activating factor) receptor TACI as a contributing factor to human autoimmune phenomena.[ncbi.nlm.nih.gov] Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans . Nat Genet 2005; 37 : 820–828. 31.[dx.doi.org]

  • Immunodeficiency Syndrome, Variable

    TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005; 37: 829–34 PubMed CrossRef Google Scholar 10.[link.springer.com] Specifically, defects in CD19, BAFF-R, and TACI have been identified in such patients. [4] The gastrointestinal manifestations of CVID are variable and tend to mimic diseases[ijpmonline.org] Mutations in a cell receptor (TACI) needed for normal growth and regulation of B-cells have also been found in about 8% of patients with CVID.[primaryimmune.org]

  • Good's Syndrome

    @article{6abcce017ce94d0f9fe6c663f8dd9e0f, title "TACI mutation p.Lys154Ter identified in Good Syndrome", keywords "Common variable immunodeficiency, Good's syndrome, TACI[utah.pure.elsevier.com] TACI mutation in Good’s syndrome: In search of a genetic basis. Clin. Immunol. 2012;145(1):27-30.[revistaalergia.mx] TACI mutation p.Lys154Ter identified in Good Syndrome. Clin Immunol. 2013;146:10–2. PubMed CrossRef Google Scholar 10.[link.springer.com]

  • Transient Hypogammaglobulinemia of Infancy

    TACI and BAFF-R mediate isotype switching in B cells. J Exp Med . 2005 Jan 3. 201(1):35-9. [Medline] . Cunningham-Rundles C, Bodian C.[emedicine.medscape.com]

  • Childhood-Onset Hypophosphatasia

    Identified in a Patient with Selective, 岡田 賢, 50th ASH annual meeting, 2009年, 通常, 日本語 重症先天性好中球減少症, 周期性好中球減少症におけるELA2解析, 岡田 賢, 第71回 日本血液学会, 2009年, 通常, 日本語 TACIに異常を認めたIgA低下症[seeds.office.hiroshima-u.ac.jp] Review 血液 2008, 中外医学社, 2008年, 01, 共著, 272 2007年12月, Annual Review 血液 2008III.白血球系 1.先天性好中球減少症の病因 pp.94-100, 中外医学社, 2007年, 12, 共編著, 9784498125421, 272 2007年06月, IgA単独欠損症とTACI[seeds.office.hiroshima-u.ac.jp] , 2007年, 通常, 日本語 新規遺伝子変異を認めたIFN-γ receptor 1異常症の解析, 岡田 賢, 第110回日本小児科学会学術集会, 2007年, 通常, 日本語 小児血液腫瘍CCSにおける内分泌学的検討  小児期にGH治療を行った19例の検討 , 岡田 賢, 第41回日本小児内分泌学会, 2007年, 通常, 日本語 TACI[seeds.office.hiroshima-u.ac.jp]

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