Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.040 GeneticVariation disease BEFREE A molecularly defined IGHV4-34+ variant is also resistant whether HCL or HCLv immunophenotypically. 31068044 2019
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 Biomarker disease BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.010 Biomarker disease BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		0.010 Biomarker disease BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019
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
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
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
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		0.020 GeneticVariation disease BEFREE The list is now growing with the report of increased frequency of inactivating mutations in the TNFAIP3 gene in MALT lymphomas expressing IG receptors encoded by the IGHV4-34 gene, particularly of the ocular adnexa. 28892161 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 Biomarker disease BEFREE Furthermore, subset 4 IGs do not bind DNA nor i or I carbohydrate antigens, common targets of IGHV4-34-utilizing antibodies in systemic lupus erythematosus and cold agglutinin disease, respectively. 28097289 2017
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.010 Biomarker phenotype BEFREE <b>Purpose:</b> We sought to investigate whether B cell receptor immunoglobulin (BcR IG) stereotypy is associated with particular clinicobiological features among chronic lymphocytic leukemia (CLL) patients expressing mutated BcR IG (M-CLL) encoded by the IGHV4-34 gene, and also ascertain whether these associations could refine prognostication.<b>Experimental Design:</b> In a series of 19,907 CLL cases with available immunogenetic information, we identified 339 IGHV4-34-expressing cases assigned to one of the four largest stereotyped M-CLL subsets, namely subsets #4, #16, #29 and #201, and investigated in detail their clinicobiological characteristics and disease outcomes.<b>Results:</b> We identified shared and subset-specific patterns of somatic hypermutation (SHM) among patients assigned to these subsets. 28536306 2017
CUI: C0175816
Disease: Cold Hemagglutinin Disease
Cold Hemagglutinin Disease 		0.010 Biomarker disease BEFREE Furthermore, subset 4 IGs do not bind DNA nor i or I carbohydrate antigens, common targets of IGHV4-34-utilizing antibodies in systemic lupus erythematosus and cold agglutinin disease, respectively. 28097289 2017
CUI: C1850900
Disease: Familial primary gastric lymphoma
Familial primary gastric lymphoma 		0.010 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
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 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
CUI: C0280803
Disease: Primary central nervous system lymphoma
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: 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
CUI: C0280803
Disease: Primary central nervous system lymphoma
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
CUI: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
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 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 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