Heavy Chain Disease

A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.

Also Known As:

Networked: 128 relevant articles (3 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Lymphoma (Lymphomas)
2.	Waldenstrom Macroglobulinemia (Macroglobulinemia)
3.	Immunoproliferative Small Intestinal Disease
4.	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)
5.	Paraproteinemias (Monoclonal Gammopathy)

Experts

1.	Morita, Keiko: 3 articles (03/2006 - 09/2002)
2.	Okamoto, Yasuyuki: 3 articles (03/2006 - 09/2002)
3.	Takahashi, Takayuki: 2 articles (01/2012 - 02/2004)
4.	Matsushita, Akiko: 2 articles (01/2012 - 02/2004)
5.	Corcos, Daniel: 2 articles (06/2011 - 01/2006)
6.	Osborn, Michael J: 2 articles (06/2011 - 01/2006)
7.	Wahner-Roedler, Dietlind L: 2 articles (01/2005 - 06/2002)
8.	Kyle, Robert: 1 article (05/2014)
9.	Clark, Raynell: 1 article (05/2014)
10.	Katzmann, Jerry: 1 article (05/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Heavy Chain Disease:

1.	Chlorambucil (Leukeran)FDA Link 11/19/1977 - "[Franklin's disease: remission after 3 months using chlorambucil]." 09/01/1980 - "After therapy with chlorambucil, the level of the heavy chain disease protein in the serum decreased substantially."
2.	Prednisone (Sone)FDA LinkGeneric 07/01/1975 - "Gamma heavy chain disease: rapid, sustained response to cyclophosphamide and prednisone." 07/01/1975 - "A patient, CAL, with gamma heavy chain disease is presented who has had a complete remission lasting over 2 yr with combination chemotherapy consisting of pulsatile cyclophosphamide and prednisone. "
3.	Cyclophosphamide (Cytoxan)FDA LinkGeneric 07/01/1975 - "Gamma heavy chain disease: rapid, sustained response to cyclophosphamide and prednisone." 07/01/1975 - "A patient, CAL, with gamma heavy chain disease is presented who has had a complete remission lasting over 2 yr with combination chemotherapy consisting of pulsatile cyclophosphamide and prednisone. "
4.	Adrenal Cortex Hormones (Corticosteroids)IBA 02/15/1984 - "A patient with evidence at presentation of alpha-heavy chain disease and an immunoblastic lymphoma is presented, who had remained in clinical, histologic, and immunologic remission for more than 12 years following initial radiotherapy and corticosteroids. "
5.	Immunoglobulins (Immunoglobulin)IBA 07/01/1990 - "Evidence that membrane immunoglobulin alterations contribute to oncogenesis in vivo comes from studies of heavy chain diseases. " 11/01/1989 - "Immunocytologic studies showed that a gamma heavy chain disease protein may occur in the context of a double monoclonal lymphoproliferative process or in various B or T cell malignancies that are not directly involved in the production of the abnormal immunoglobulin. " 03/01/2006 - "The presence of abnormal serum immunoglobulin composed of only gamma heavy chain has been known as a fundamental feature of gamma heavy chain disease (HCD). " 03/01/1993 - "An insertion-deletion event in murine immunoglobulin kappa gene resembles mutations at heavy-chain disease loci." 09/01/1992 - "Patients with gamma heavy chain disease (gamma-HCD) generally produce incomplete immunoglobulin (Ig) gamma-heavy chains (gamma-HCD protein) which cannot associate with light chains (IgL). "
6.	Proteins (Proteins, Gene)IBA 12/31/1971 - "Structural studies of gamma heavy chain disease proteins." 01/01/2014 - "Severe enteropathy caused by α-heavy chain disease lacking detectable M-proteins." 03/03/1998 - "These deletions/insertions seem to be the main cause for the generation of heavy chain disease proteins. " 10/01/1995 - "The self-aggregation of mu chain disease proteins might account for this constitutive activation. " 06/01/1991 - "[Gamma-1 heavy chain disease with the demonstration of Bence-Jones proteins]."
7.	gamma-Globulins (gamma-Globulin)IBA 02/01/1965 - "[PROGRESS IN THE STUDY OF GAMMA GLOBULIN STRUCTURE IN "HEAVY CHAIN" DISEASE WITH 2 TYPES OF MANIFESTATION]." 09/01/2002 - "Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration." 09/01/1964 - "HEAVY CHAIN DISEASE- A NEW DISORDER OF SERUM GAMMA-GLOBULINS : REPORT OF THE FIRST CASE." 07/31/1964 - "Structural differences between two antigenic types (designated C and Z) of gamma-globulins, both of low molecular weight, produced in " Heavy chain" disease are revealed by their relative susceptibilities to enzymatic degradation by papain and the nature of the cleavage products. "
8.	Messenger RNA (mRNA)IBA 11/01/1992 - "In this study we established the nucleotide sequence of alpha mRNA for six cases of alpha heavy chain disease. " 06/19/1993 - "The NH2-terminal structure of serum abnormal protein, as well as the sequence of the corresponding mRNA, were determined in a new case of alpha heavy chain disease. " 11/01/1992 - "Alpha heavy chain disease alpha mRNA contain nucleotide sequences of unknown origins." 01/01/1991 - "A series of mouse myeloma cell lines producing mutant gamma 2b immunoglobin heavy chains, which resemble heavy chain disease proteins, were analyzed for messenger RNA abundance as a function of mRNA alterations. "
9.	DNA (Deoxyribonucleic Acid)IBA 06/01/1991 - "Using probes isolated from the 9p11 band in the study of a case of alpha-heavy-chain disease (MAL) with t(9;14)(p11;q32), we studied the DNA from seven malignant cell samples, including four cases of acute lymphoblastic leukemia with tdic(9;12)(p11;p12). " 06/01/1970 - "gamma-heavy chain disease proteins provide unique information that indicates that if translocation is required for the production of immunoglobulin heavy chains, it is DNA, not RNA, that is translocated."
10.	GlycopeptidesIBA 12/01/1968 - "Studies on the glycopeptides isolated from the urinary protein in heavy-chain disease."

Therapies and Procedures

1.	Combination Drug Therapy (Combination Chemotherapy) 04/01/1986 - "This case supports the notion of Kyle et al that heavy-chain disease may present a diverse picture, and documents the first use of aggressive combination chemotherapy in the management of associated moderately severe hypercalcemia and hypercalcemic renal failure." 07/01/1975 - "A patient, CAL, with gamma heavy chain disease is presented who has had a complete remission lasting over 2 yr with combination chemotherapy consisting of pulsatile cyclophosphamide and prednisone. "
2.	Radiotherapy 02/15/1984 - "A patient with evidence at presentation of alpha-heavy chain disease and an immunoblastic lymphoma is presented, who had remained in clinical, histologic, and immunologic remission for more than 12 years following initial radiotherapy and corticosteroids. "
3.	Nutritional Support (Artificial Feeding) 09/01/1988 - "Severe malnutrition associated with alpha-heavy chain disease: response to tetracycline and intensive nutritional support."
4.	Laparotomy 09/01/1988 - "A diagnosis of alpha-heavy chain disease (alpha-HCD) was made on endoscopic duodenal biopsy and serology--lymphoma being excluded by scanning and laparotomy. "
5.	Drug Therapy (Chemotherapy) 12/01/2008 - "Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20."