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At least 109 records · Page 6Linked to original sources
PubMed1975

Gamma heavy chain disease: rapid, sustained response to cyclophosphamide and prednisone.

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. The patient exhibited many features of an atuoimmune process including a vasculitis, low serum complement levels, a positive antiglobulin (Coombs) test, Raynaud's phenomenon, and keratoconjunctivitis sicca. The CAL paraprotein was found to have several previously undescribed characteristics. It reacted with antisera to Fd, Fab, and Fab', suggesting that most of the Fd portion of the molecule was intace. CAL protein consists of two polypeptide chains of molecular weight 49,000 covalently linked to form a dimer of 95,000 molecular weight. The covalent linkage suggests that the hinge region of this gamma heavy chain is intact.

Bone Marrow Examination↗
PubMed1978

Alpha heavy chain disease (report of 18 cases from Iraq).

The clinical and pathological features of 18 new patients with alpha heavy chain disease seen at two referral centres in Baghdad, Iraq, are described. The series included 14 males and four females ranging in age from 14 to 47 years. Almost all patients presented because of long-standing abdominal pain and diarrhoea. The tissue diagnosis and extent of the disease were established at laparotomy in most patients. Peroral jejunal biospy was used in a number of patients, mainly for follow-up. The serological abnormality was confirmed by immunoselection technique. Most of the patients had extensive thickening of the bowel wall and/or tumour masses of the small intestine and mesenteric nodes. Histopathological sections showed muscularis. Preliminary results of the treatment, including two long remissions, are reported. In general, our observations agree with those made by other authors, mostly from the Middle East and Africa. We believe that a high index of clinical suspicion, routine use of the immunoselection, and recognition of the early pathological changes may hopefully lead to the detection of more cases before the frank neoplastic phase of the disease.

Adolescent↗
PubMed1993

Complete variable region deletion in a mu heavy chain disease protein (ROUL). Correlation with light chain secretion.

In a patient affected with chronic lymphocytic leukemia with lymphocyte surface mu and kappa determinants and vacuolated bone marrow plasma cells, the serum contained polymers of a truncated mu chain and normal-sized kappa chains. These light chains were present as monomers and covalent dimers in studies performed under dissociating conditions, but they were linked by non-covalent bridges to a portion of the serum short mu chains. The patient's urine contained a kappa type Bence-Jones protein. Study of a messenger RNA and complementary DNA from blood cells showed the abnormal mu chain to lack the entire variable region, likely due to a direct splicing of the leader peptide exon onto the CH1 exon. The production of light chains, a rare event in heavy chain diseases, appears to correlate with the occurrence of a heavy chain deletion restricted to the variable domain, likely because the non-covalently linked light chains allow these unusual heavy chains to be secreted.

Amino Acid Sequence↗
PubMed1978

[Alpha heavy chain disease].

Alpha chain disease is a fairly rare disease (less than 80 cases have been diagnosed to date) the diagnosis of which should be considered as a routine in France when a young arab or oriental jew presents with digestive symptoms such as chronic diarrhoea, abdominal pain of abdominal tumour. The diagnosis of the disease requires two examinations 1) serum immunoelectrophoresis with monospecific anti-IgA antiserum, which alone isolates in 100% of cases the paraprotein. 2) Exploratory laparatomy seems advisable in all cases, for it alone permits multiple lymph node and intestinal biopsies whict are necessary to determine the stage of the disease, the prognosis and treatment. 3) Generally speaking, heavy chain disease seems to represent like Burkitt's lymphoma, a model for experimental carcinoma.

Adolescent↗
PubMed1977

[Gamma heavy chain disease associated with rheumatoid arthritis. Spontaneous disappearance of the pathologic protein].

The authors report the chance discovery in a man aged 53 years with serum positive rheumatoid arthritis, of gamma 3 heavy chain disease. The originality of this case depended on the absence of any detectable lymphoid proliferation and on the transient character of the pathological protein. Only the course after a long follow up will determine whether there is no incipient lymphoid proliferation and whether the heavy chain disease has disappeared permanently.

Arthritis, Rheumatoid↗
PubMed2003

Gamma-heavy chain disease: review of 23 cases.

We report the cases of 23 patients with gamma-heavy chain disease seen at our institution (8 patients previously reported, 15 new patients). There were 15 women and 8 men; the median age at diagnosis was 68 years (range, 42-87 yr). Sixteen patients had an associated lymphoplasma cell proliferative disorder, 3 had a lymphoplasma cell proliferative disorder and an autoimmune disorder, another 3 had an autoimmune disorder only, and 1 had no underlying disease. The lymphoplasma cell proliferative disorder was disseminated in 10 patients and localized in 6. Patients with localized lymphoplasma cell proliferative disorder included 3 with plasmacytoma (1 tongue, 1 submandibular area, and 1 thyroid), 2 with lymphoplasma cell proliferative disorder involving the bone marrow only, and 1 with amyloid of the skin. At the time of diagnosis, lymphadenopathy was present in 8 patients, splenomegaly in 7, and hepatomegaly in 1. A monoclonal spike on serum protein electrophoresis was documented in 19 patients. gamma-Heavy chain was documented by immunofixation in the serum of all patients; 2 had an additional immunoglobulin M-lambda. gamma-Heavy chain was present in the urine in 19 of 22 patients. Sixteen patients were treated for lymphoplasma cell proliferative disorder or autoimmune disorder (14 with chemotherapy, 1 splenectomy, and 1 thyroidectomy followed by radiation therapy). For 5 patients, treatment was not felt to be necessary; 2 patients were thought to be too sick for treatment. Of the 16 patients treated, 6 had a complete clinical response (in 2, gamma-heavy chain disappeared; in 2, gamma-heavy chain persisted; and for 2, no serologic follow-up was available); in 10 patients, clinical disease persisted (in 3, gamma-heavy chain disappeared; in 6, it persisted; and for 1, no serologic follow-up was available). Of 7 patients not treated, 2 died within 5 months; 1 died after 15 months; 2 had no clinical disease at latest follow-up, although gamma-heavy chain persisted; and 2 had no change in clinical and serologic status. The median duration of follow-up was 33 months (range, 1-261 mo). Median survival was 7.4 years.

Adult↗
PubMed1987

Gastric alpha heavy chain disease.

Clinicopathological and immunohistological features of 4 cases of gastric lymphomas with alpha-heavy chain disease (AHCD) are described. Clinically there were no reliable features that could distinguish them from the 'western' types of gastric lymphomas (WGL). Two of the 4 had diffuse mucosal involvement reminiscent of the more common intestinal form of AHCD. Histologically, all 4 were low-grade follicular-centre cell lymphomas with plasmacytic differentiation. The diagnosis of gastric AHCD and its implications are discussed.

Adult↗
PubMed1978

Monoclonal IgM cryoglobulinemia associated with gamma-3 heavy chain disease: immunochemical and biochemical studies.

A patient (Mia) with a monoclonal IgM(kappa) cryoglobulin (cryo IgM) developed additional heavy chain disease proteins of the gamma3 subclass 8 years later. Biochemical studies of the cryo IgM indicated that the heavy chain was VHI, but the NH2-terminal amino acid sequence of the light chain did not permit a definite assignment of its Vkappa subgroup. Two major fragments of the gamma3 chain were distinguishable by electrophoresis in sodium dodecyl sulfate polyacrylamide gel. The smaller component (designated Mia F) had a molecular weight of approximately 30 000 and the larger component (designated Mia S) 35 000. Both fragments had G3m(21) and G3m(27) allotypic determinants. These data and the NH2-terminal amino acid sequence of the gamma chain fragments suggested that Mia S consists of the major part of the gamma3 hinge region plus the CH2 and CH3 domains of the gamma3 chain, whereas Mia F may be derived from the former as a result of postsynthetic cleavage. The partial amino acid sequence of the Mia S fragment is homologous to the hinge region amino acid sequence of human gamma3 chains reported in the literature, with only one amino acid difference out of the 11 residues compared. This difference may represent an allotypic difference within the gamma3 subclass. Alternatively, the production of Mia S may have resulted from the accidental derepression of a "silent" constant region gene not expressed in normal individuals.

Amino Acid Sequence↗
PubMed2000

[Development of gamma-heavy chain disease during the course of diabetic nephropathy].

We reported a rare case of gamma-heavy chain disease. A 63-year-old man had been given a diagnosis of diabetes mellitus at the age of 30 and had received hemodialysis since the age of 55. The patient presented with swollen lymph nodes in the neck. Lymph node biopsy findings suggested immunoblastic lymphadenopathy. The patient was admitted to Kitasato University hospital. Serum protein electrophoresis showed an increase of beta-fraction peak, and immunoelectrophoresis revealed an increase of gamma-heavy chain protein. Further studies of the gamma-heavy chain protein showed that it contained three different components and that the molecular weight of the main component was 34,000 Da. The patient died on the 11th day of hospitalization. The diagnosis at autopsy was unclassified malignant lymphoma.

Diabetic Nephropathies↗
PubMed2004

A 59-year-old woman with immunotactoid glomerulopathy, heavy-chain disease, and non-hodgkin lymphoma.

Immunotactoid glomerulopathy is one of several renal disorders characterized by the extracellular deposition of nonamyloid fibrillary deposits. There is considerable debate as to whether immunotactoid glomerulopathy should be distinguished from fibrillary glomerulonephritis, a closely related entity. Currently, the distinction is based on fibril size and arrangement. We report the case of a 59-year-old woman in whom a diagnosis of immunotactoid glomerulopathy was made after a 2-year history of proteinuria. Electron microscopy of her renal biopsy showed randomly arranged microtubular subepithelial and mesangial deposits, which measured 34 nm in average diameter. She was later discovered to have circulating immunoglobulin G heavy chains without associated light chains (gamma-heavy-chain disease) and, subsequently, non-Hodgkin lymphoma, follicular lymphoma, grade I (World Health Organization classification). Approximately 100 cases of gamma-heavy-chain disease have been reported in the literature since it was originally described by Franklin in 1964. However, while there are 10 reports in the literature of heavy-chain disease with fibrillary deposits in the kidney, none fit the criteria for immunotactoid glomerulopathy.

Female↗
PubMed1990

Alpha heavy chain disease of patient MAL: structure of the non-functional rearranged alpha gene translocated on chromosome 9.

Alpha heavy chain diseases (HCD) are lymphoproliferative disorders characterized by the production of truncated alpha immunoglobulin heavy chain without associated light chains, alpha HCD MAL is featured by multiple structural alterations of the alpha 1 productive gene and on original t(9;14)(p11;q32) translocation involving the other rearranged alpha 1 allele. We present here the structure of the der(9) chromosome. Sequence analysis provides evidence that the translocation occurred after local pairing of the two chromosomes mediated by an almost perfect nonameric sequence, followed by a staggered double-strand break of chromosome 14. This translocation occurred on a V(D)J rearranged locus; unexpectedly, there were a deletion of the 3' part of the VH gene, several insertions of non-immunoglobulin-related genes and multiple mutations, i.e. alterations reminiscent of those occurring on the HCD productive genes.

B-Lymphocytes↗
PubMed1976

A new immunoglobulin variant: gamma3 heavy chain disease protein CHI.

Protein CHI is a defective human gamma3 heavy chain immunoglobulin with a deletion encompassing a portion of the variable and constant regions. Joining of the two pieces takes place at the beginning of an extra fragment (Fh) in the constant region where repetitive sequences are found, apparently as the result of gene duplications and/or unequal crossover between gamma genes. It is postulated that a 45 nucleotide fragment is the repetitive unit coding for the extra fragment.

Amino Acid Sequence↗
PubMed1986

Gamma-chain heavy-chain disease with primary thyroid plasmacytoma.

A case of gamma-chain heavy-chain disease was associated with primary thyroid plasmacytoma. The patient has been free of complaints for two years since the removal of the tumorous thyroid. The heavy-chain fragment (molecular weight, 32,000 daltons) has disappeared from the serum and urine, while the previously low levels of normal immunoglobulins have increased. The immunoglobulin anomaly may be correlated with the chronic antigen stimulus.

Aged↗
PubMedDate not supplied

[Rearrangement of immunoglobulin genes in alpha heavy chain disease: a criterion of monoclonality].

We have studied the configuration of genes encoding for the heavy and light chains in the tumoral cells of 6 patients affected by alpha heavy chain disease (alpha HCD). The results showed the presence of rearrangement of the alpha heavy chain as well as the kappa light chain genes whereas the lambda genes were in germinal configuration. Thus, these results suggest the presence of a monoclonal compound in the tumoral cells in the alpha HCD.

Adult↗