The Experts below are selected from a list of 174 Experts worldwide ranked by ideXlab platform
Aliyah R. Sohani - One of the best experts on this subject based on the ideXlab platform.
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Heavy Chain Disease of the Small Bowel.
Current gastroenterology reports, 2018Co-Authors: Giada Bianchi, Aliyah R. SohaniAbstract:The purpose of this review is to discuss current knowledge and recent findings regarding pathogenesis, outcome, and treatment for Heavy Chain Disease (HCD) involving the small bowel, focusing on alpha HCD or immunoproliferative small intestinal Disease (IPSID), the HCD subtype typically affecting the small bowel. A link between Campylobacter jejuni infection and IPSID has been established, but there is controversy as to the role played by this organism in Disease pathogenesis. While cytogenetic abnormalities involving various immunoglobulin loci and PAX5 have been reported, these have been described in rare, single cases, limiting their ability to shed further light on Disease pathogenesis. IPSID is typically regarded as a pre-lymphomatous condition with eventual progression to frank lymphoma; however, recent reports of longstanding non-progressive cases have expanded its clinical spectrum. IPSID is an uncommon disorder affecting the small intestine. This review focuses on current knowledge and novel insight regarding its pathogenesis, outcome, and treatment, with an emphasis on future directions.
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Heavy Chain Disease of the Small Bowel
Current Gastroenterology Reports, 2018Co-Authors: Giada Bianchi, Aliyah R. SohaniAbstract:Purpose of Review The purpose of this review is to discuss current knowledge and recent findings regarding pathogenesis, outcome, and treatment for Heavy Chain Disease (HCD) involving the small bowel, focusing on alpha HCD or immunoproliferative small intestinal Disease (IPSID), the HCD subtype typically affecting the small bowel. Recent findings A link between Campylobacter jejuni infection and IPSID has been established, but there is controversy as to the role played by this organism in Disease pathogenesis. While cytogenetic abnormalities involving various immunoglobulin loci and PAX5 have been reported, these have been described in rare, single cases, limiting their ability to shed further light on Disease pathogenesis. IPSID is typically regarded as a pre-lymphomatous condition with eventual progression to frank lymphoma; however, recent reports of longstanding non-progressive cases have expanded its clinical spectrum. Summary IPSID is an uncommon disorder affecting the small intestine. This review focuses on current knowledge and novel insight regarding its pathogenesis, outcome, and treatment, with an emphasis on future directions.
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Gamma Heavy Chain Disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma
Haematologica, 2014Co-Authors: Fatima Hamadeh, Stephen P Macnamara, Chris M. Bacon, Aliyah R. Sohani, Steven H. Swerdlow, James R. CookAbstract:Gamma Heavy Chain Disease (gHCD) is defined by an abnormally truncated IgG Heavy Chain monoclonal protein that lacks associated light Chains and is secreted by a small B-cell neoplasm with plasmacytic differentiation.[1][1],[2][2] Clinically, gHCD is associated with a female predominance and a high
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gamma Heavy Chain Disease defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases
The American Journal of Surgical Pathology, 2012Co-Authors: Shannon Bieliauskas, Chris M. Bacon, Aliyah R. Sohani, Steven H. Swerdlow, Raymond R Tubbs, Camellia Eshoa, Kathryn Foucar, Sarah E Gibson, Steven H Kroft, James R. CookAbstract:Gamma Heavy-Chain Disease (gHCD) is defined as a lymphoplasmacytic neoplasm that produces an abnormally truncated immunoglobulin gamma Heavy-Chain protein that lacks associated light Chains. There is scant information in the literature regarding the morphologic findings in this rare disorder, but cases have often been reported to resemble lymphoplasmacytic lymphoma (LPL). To clarify the spectrum of lymphoproliferative disorders that may be associated with gHCD, this study reports the clinical, morphologic, and phenotypic findings in 13 cases of gHCD involving lymph nodes (n=7), spleen (n=2), bone marrow (n=8), or other extranodal tissue biopsies (n=3). Clinically, patients showed a female predominance (85%) with frequent occurrence of autoimmune Disease (69%). Histologically, 8 cases (61%) contained a morphologically similar neoplasm of small lymphocytes, plasmacytoid lymphocytes, and plasma cells that was difficult to classify with certainty, whereas the remaining 5 cases (39%) showed the typical features of one of several other well-defined entities in the 2008 WHO classification. This report demonstrates that gHCD is associated with a variety of underlying lymphoproliferative disorders but most often shows features that overlap with cases previously reported as "vaguely nodular, polymorphous" LPL. These findings also provide practical guidance for the routine evaluation of small B-cell neoplasms with plasmacytic differentiation that could represent a Heavy-Chain Disease and give suggestions for an improved approach to the WHO classification of gHCD.
Giada Bianchi - One of the best experts on this subject based on the ideXlab platform.
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Heavy Chain Disease of the Small Bowel
Current Gastroenterology Reports, 2018Co-Authors: Giada Bianchi, Aliyah R. SohaniAbstract:Purpose of Review The purpose of this review is to discuss current knowledge and recent findings regarding pathogenesis, outcome, and treatment for Heavy Chain Disease (HCD) involving the small bowel, focusing on alpha HCD or immunoproliferative small intestinal Disease (IPSID), the HCD subtype typically affecting the small bowel. Recent findings A link between Campylobacter jejuni infection and IPSID has been established, but there is controversy as to the role played by this organism in Disease pathogenesis. While cytogenetic abnormalities involving various immunoglobulin loci and PAX5 have been reported, these have been described in rare, single cases, limiting their ability to shed further light on Disease pathogenesis. IPSID is typically regarded as a pre-lymphomatous condition with eventual progression to frank lymphoma; however, recent reports of longstanding non-progressive cases have expanded its clinical spectrum. Summary IPSID is an uncommon disorder affecting the small intestine. This review focuses on current knowledge and novel insight regarding its pathogenesis, outcome, and treatment, with an emphasis on future directions.
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Heavy Chain Disease of the Small Bowel.
Current gastroenterology reports, 2018Co-Authors: Giada Bianchi, Aliyah R. SohaniAbstract:The purpose of this review is to discuss current knowledge and recent findings regarding pathogenesis, outcome, and treatment for Heavy Chain Disease (HCD) involving the small bowel, focusing on alpha HCD or immunoproliferative small intestinal Disease (IPSID), the HCD subtype typically affecting the small bowel. A link between Campylobacter jejuni infection and IPSID has been established, but there is controversy as to the role played by this organism in Disease pathogenesis. While cytogenetic abnormalities involving various immunoglobulin loci and PAX5 have been reported, these have been described in rare, single cases, limiting their ability to shed further light on Disease pathogenesis. IPSID is typically regarded as a pre-lymphomatous condition with eventual progression to frank lymphoma; however, recent reports of longstanding non-progressive cases have expanded its clinical spectrum. IPSID is an uncommon disorder affecting the small intestine. This review focuses on current knowledge and novel insight regarding its pathogenesis, outcome, and treatment, with an emphasis on future directions.
Yasuyuki Okamoto - One of the best experts on this subject based on the ideXlab platform.
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γ Heavy Chain Disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum γ globulin concentration
Annals of Clinical Biochemistry, 2002Co-Authors: Tsunenori Takatani, Keiko Morita, Naomi Takaoka, Masatsuga Tatsumi, Yorio Okuno, Takayuki Masutani, Koichi Murakawa, Akihiro Fukui, Nobuhiko Tsukaguchi, Yasuyuki OkamotoAbstract:A 75-year-old woman with rheumatoid arthritis showed a discrepancy between the reduced level of serum gamma globulin on cellulose acetate electrophoresis and the normal level of serum IgG determined by laser nephelometry. Although no M-peak was detectable on cellulose acetate electrophoresis, immunoelectrophoresis of the patient's serum revealed a monoclonal protein reacting with anti-IgG antiserum but not with anti-kappa or anti-lambda light Chain antiserum. Western blotting of the patient's serum showed abnormal low-molecular-weight gamma Chains. Thus, the patient was diagnosed with gamma Heavy Chain Disease. A comparison of gamma globulin levels determined by different methods may be useful when screening for this Disease.
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Gamma Heavy Chain Disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration.
Annals of clinical biochemistry, 2002Co-Authors: Tsunenori Takatani, Keiko Morita, Naomi Takaoka, Masatsuga Tatsumi, Yorio Okuno, Takayuki Masutani, Koichi Murakawa, Akihiro Fukui, Nobuhiko Tsukaguchi, Yasuyuki OkamotoAbstract:A 75-year-old woman with rheumatoid arthritis showed a discrepancy between the reduced level of serum gamma globulin on cellulose acetate electrophoresis and the normal level of serum IgG determined by laser nephelometry. Although no M-peak was detectable on cellulose acetate electrophoresis, immunoelectrophoresis of the patient's serum revealed a monoclonal protein reacting with anti-IgG antiserum but not with anti-kappa or anti-lambda light Chain antiserum. Western blotting of the patient's serum showed abnormal low-molecular-weight gamma Chains. Thus, the patient was diagnosed with gamma Heavy Chain Disease. A comparison of gamma globulin levels determined by different methods may be useful when screening for this Disease.
James R. Cook - One of the best experts on this subject based on the ideXlab platform.
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Gamma Heavy Chain Disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma
Haematologica, 2014Co-Authors: Fatima Hamadeh, Stephen P Macnamara, Chris M. Bacon, Aliyah R. Sohani, Steven H. Swerdlow, James R. CookAbstract:Gamma Heavy Chain Disease (gHCD) is defined by an abnormally truncated IgG Heavy Chain monoclonal protein that lacks associated light Chains and is secreted by a small B-cell neoplasm with plasmacytic differentiation.[1][1],[2][2] Clinically, gHCD is associated with a female predominance and a high
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gamma Heavy Chain Disease defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases
The American Journal of Surgical Pathology, 2012Co-Authors: Shannon Bieliauskas, Chris M. Bacon, Aliyah R. Sohani, Steven H. Swerdlow, Raymond R Tubbs, Camellia Eshoa, Kathryn Foucar, Sarah E Gibson, Steven H Kroft, James R. CookAbstract:Gamma Heavy-Chain Disease (gHCD) is defined as a lymphoplasmacytic neoplasm that produces an abnormally truncated immunoglobulin gamma Heavy-Chain protein that lacks associated light Chains. There is scant information in the literature regarding the morphologic findings in this rare disorder, but cases have often been reported to resemble lymphoplasmacytic lymphoma (LPL). To clarify the spectrum of lymphoproliferative disorders that may be associated with gHCD, this study reports the clinical, morphologic, and phenotypic findings in 13 cases of gHCD involving lymph nodes (n=7), spleen (n=2), bone marrow (n=8), or other extranodal tissue biopsies (n=3). Clinically, patients showed a female predominance (85%) with frequent occurrence of autoimmune Disease (69%). Histologically, 8 cases (61%) contained a morphologically similar neoplasm of small lymphocytes, plasmacytoid lymphocytes, and plasma cells that was difficult to classify with certainty, whereas the remaining 5 cases (39%) showed the typical features of one of several other well-defined entities in the 2008 WHO classification. This report demonstrates that gHCD is associated with a variety of underlying lymphoproliferative disorders but most often shows features that overlap with cases previously reported as "vaguely nodular, polymorphous" LPL. These findings also provide practical guidance for the routine evaluation of small B-cell neoplasms with plasmacytic differentiation that could represent a Heavy-Chain Disease and give suggestions for an improved approach to the WHO classification of gHCD.
Rainer Haas - One of the best experts on this subject based on the ideXlab platform.
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A case of μ Heavy-Chain Disease associated with hyperglobulinemia, anemia, and a positive Coombs test
Annals of hematology, 1998Co-Authors: M Witzens, Gerlinde Egerer, Eugen Werle, Hartmut Goldschmidt, D Stahl, Rainer HaasAbstract:We report here for the first time a patient with mu Heavy-Chain Disease (HCD), hyperimmunoglobulinemia, and a positive direct antiglobulin test (DAT, Coombs test). The Heavy-Chain Diseases involve the proliferation of lymphoplasma cells of B cell origin and are characterized by the production of incomplete Heavy Chains devoid of light Chains. The association of mu Heavy-Chain Disease with either hyperglobulinemia or a positive DAT has not been reported in the literature to date. In this patient, immunofixation of serum proteins with monospecific antisera to alpha-, gamma-, mu,- or delta-Chains and to kappa- and lambda-Chains revealed a precipitation band with antibody to IgM, but not with kappa and lambda light-Chain antibodies, indicating mu Heavy-Chain Disease. Hyperglobulinemia was present, which is very uncommon for HCD. A DAT of the patient's red blood cells (RBC) was found to be strongly positive for anti-IgG but negative for anti-IgM, -IgA, -C3c, and -C3d. However, when the eluate from the patient's red blood cells was investigated with nephelometry, it was found to contain antigens reactive with anti-y as well with anti-mu-antiserum. When a DAT was performed with a randomly chosen test cell incubated with the eluate, the antibody-containing eluate was shown to react with anti-IgG as well as with anti-IgM-antiserum. In summary, the eluate from the patient's RBCs contained IgG and an immunoglobulin structure reactive with anti-IgM in an RBC agglutination assay as well as with anti-mu antiserum in a nephelometric investigation. Whether this IgM on the patient's erythrocytes is penta- or oligomeric, complete IgM, or the Heavy Chain cannot be concluded from these observations.
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a case of μ Heavy Chain Disease associated with hyperglobulinemia anemia and a positive coombs test
Annals of Hematology, 1998Co-Authors: M Witzens, Gerlinde Egerer, Eugen Werle, Hartmut Goldschmidt, D Stahl, Rainer HaasAbstract:We report here for the first time a patient with μ Heavy-Chain Disease (HCD), hyperimmunoglobulinemia, and a positive direct antiglobulin test (DAT, Coombs test). The Heavy-Chain Diseases involve the proliferation of lymphoplasma cells of B cell origin and are characterized by the production of incomplete Heavy Chains devoid of light Chains. The association of μ Heavy-Chain Disease with either hyperglobulinemia or a positive DAT has not been reported in the literature to date. In this patient, immunofixation of serum proteins with monospecific antisera to α-, γ-, μ,- or δ-Chains and to κ- and λ-Chains revealed a precipitation band with antibody to IgM, but not with κ and λ light-Chain antibodies, indicating μ Heavy-Chain Disease. Hyperglobulinemia was present, which is very uncommon for HCD. A DAT of the patient's red blood cells (RBC) was found to be strongly positive for anti-IgG but negative for anti-IgM, -IgA, -C3c, and -C3d. However, when the eluate from the patient's red blood cells was investigated with nephelometry, it was found to contain antigens reactive with anti-γ as well with anti-μ-antiserum. When a DAT was performed with a randomly chosen test cell incubated with the eluate, the antibody-containing eluate was shown to react with anti-IgG as well as with anti-IgM-antiserum. In summary, the eluate from the patient's RBCs contained IgG and an immunoglobulin structure reactive with anti-IgM in an RBC agglutination assay as well as with anti-μ antiserum in a nephelometric investigation. Whether this IgM on the patient's erythrocytes is penta- or oligomeric, complete IgM, or the Heavy Chain cannot be concluded from these observations.