Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 GeneticVariation disease BEFREE Subsets with "CLL-biased" homologous complementarity-determining region 3 (CDR3) were identified: (1) IGKV2-30-IGKJ2, 7 sequences with homologous kappa CDR3 (KCDR3), 5 of 7 associated with homologous IGHV4-34 heavy chains; (2) IGKV1-39/1D-39-IGKJ1/4, 4 unmutated sequences with homologous KCDR3, 2 of 4 associated with homologous IGHV4-39 heavy chains; (3) IGKV1-5-IGKJ1/3, 4 sequences with homologous KCDR3, 2 of 4 associated with unmutated nonhomologous IGHV4-39 heavy chains; (4) IGLV1-44-IGLJ2/3, 2 sequences with homologous lambda CDR3 (LCDR3), associated with homologous IGHV4-b heavy chains; and (5) IGLV3-21-IGLJ2/3, 9 sequences with homologous LCDR3, 3 of 9 associated with homologous IGHV3-21 heavy chains. 16076869 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 GeneticVariation disease BEFREE The under-representation of the IGHV4-34 gene provides an explanation for the paucity of autoimmune phenomena in MM. 16769580 2006
CUI: C0349633
Disease: Hairy cell leukemia variant
Hairy cell leukemia variant
0.300 SusceptibilityMutation disease ORPHANET VH4-34+ hairy cell leukemia, a new variant with poor prognosis despite standard therapy. 19745070 2009
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 AlteredExpression disease BEFREE In this context, we sought evidence for persistent activation by EBV and CMV in CLL cases expressing the IGHV4-34 gene. 19148139 2009
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.020 AlteredExpression group BEFREE The IGHV4-34 gene was most frequently expressed in chronic lymphocytic leukemia (27.5%), whereas it was rarely found in leukemic chronic lymphoproliferative disorders (7.7%, P = 0.005). 19220298 2009
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 AlteredExpression disease BEFREE We recently showed that ID in the IG heavy chain genes of patients with chronic lymphocytic leukemia (CLL) was generally limited; however, intense ID was evident in selected cases, especially those expressing stereotyped IGHV4-34 rearrangements and assigned to subset 4. 20463750 2010
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 AlteredExpression disease BEFREE Distinct gene expression profiles in subsets of chronic lymphocytic leukemia expressing stereotyped IGHV4-34 B-cell receptors. 20801898 2010
CUI: C0349633
Disease: Hairy cell leukemia variant
Hairy cell leukemia variant
0.300 SusceptibilityMutation disease ORPHANET Molecular variant of hairy cell leukemia with poor prognosis. 21599610 2011
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.010 GeneticVariation disease BEFREE In particular, older and more recent studies have demonstrated that MCL is characterized by a highly distinctive immunoglobulin gene repertoire with remarkable predominance of the IGHV3-21 and IGHV4-34 genes; restricted associations of IGHV, IGHD and IGHJ genes, culminating in the creation of quasi-identical ("stereotyped") heavy complementarity-determining region 3 sequences in roughly 10% of cases; and, very precisely targeted and, probably, functionally driven somatic hypermutation, ranging from minimal (in most cases) to pronounced. 21946621 2011
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.040 Biomarker disease BEFREE Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600. 22210875 2012
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.010 Biomarker disease BEFREE Molecular characterization of immunoglobulin gene rearrangements in diffuse large B-cell lymphoma: antigen-driven origin and IGHV4-34 as a particular subgroup of the non-GCB subtype. 22982190 2012
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 Biomarker disease BEFREE Molecular characterization of immunoglobulin gene rearrangements in diffuse large B-cell lymphoma: antigen-driven origin and IGHV4-34 as a particular subgroup of the non-GCB subtype. 22982190 2012
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 Biomarker disease BEFREE Temporal dynamics of clonal evolution in chronic lymphocytic leukemia with stereotyped IGHV4-34/IGKV2-30 antigen receptors: longitudinal immunogenetic evidence. 23922244 2013
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 GeneticVariation group BEFREE These findings and the specific paring between the IGKV3-20*01 and IGHV4-34 alleles suggest that specific antigens could play an important role in the pathogenesis of these lymphomas. 23418012 2013
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.040 GeneticVariation disease BEFREE High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias. 24241536 2014
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
0.020 GeneticVariation group BEFREE The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma. 24143001 2014
Primary central nervous system lymphoma
0.020 GeneticVariation disease BEFREE Immunoglobulin heavy-chain variable gene segment (IGHV), IGHV4, was the predominant family used by 66% (33 of 50) of PCNSLs with a preferential rearrangement of the IGHV4-34 gene segment (18 [55%] of 33). 25383641 2014
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
0.010 GeneticVariation disease BEFREE The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma. 24143001 2014
Malignant lymphoma - lymphoplasmacytic
0.010 GeneticVariation disease BEFREE The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma. 24143001 2014
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 Biomarker disease BEFREE In this study we investigated specific biological and clinical features associated with chronic lymphocytic leukemia (CLL) patients carrying stereotyped BCR subset #4 (IGHV4-34) among a prospective cohort of 462 CLL/MBL patients in early stage (Binet A). 25860243 2015
Primary central nervous system lymphoma
0.020 Biomarker disease BEFREE Furthermore, 87% (20/23) of the recAbs, including all Abs derived from IGHV4-34 using PCNSL, recognized galectin-3, which was upregulated on microglia/macrophages, astrocytes, and cerebral endothelial cells upon CNS invasion by PCNSL. 26116512 2015
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 GeneticVariation disease BEFREE Chronic lymphocytic leukemia (CLL) patients assigned to stereotyped subset #4 (mutated IGHV4-34/IGKV2-30 BCR Ig) display a particularly indolent disease course. 27059597 2016
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.080 GeneticVariation disease BEFREE Chronic Lymphocytic Leukemia with Mutated IGHV4-34 Receptors: Shared and Distinct Immunogenetic Features and Clinical Outcomes. 28536306 2017
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.040 GeneticVariation disease BEFREE HCL variant and the IGHV4-34 molecular variant of HCL lack BRAF mutation and have inferior outcomes with standard purine analogue therapy. 28146266 2017
Mucosa-Associated Lymphoid Tissue Lymphoma
0.020 Biomarker disease BEFREE We showed that: (1) there was a significant association between the biased usage of IGHV4-34 (binds to the carbohydrate I/i antigens) and inactivating mutation of TNFAIP3 [encoding a global negative regulator of the canonical nuclear factor-κB (NF-κB) pathway] in ocular adnexal MALT lymphoma; (2) IGHV1-69 was significantly overrepresented (54%) in MALT lymphoma of the salivary gland, but was not associated with mutation in any of the 17 genes investigated; and (3) MALT lymphoma lacked mutations that are frequently seen in other B-cell lymphomas characterized by constitutive NF-κB activities, including mutations in CD79B, CARD11, MYD88, TNFRSF11A, and TRAF3. 28682481 2017