A new case of γ-heavy chain disease (LIA protein) with deletion of the hinge region

Claudio Santoro; Mario De Marchi; Erna van Loghem; Gerda de Lange; Giorgio Malfi; Adriano Vitelli; Angelo O. Carbonara

doi:10.1007/BF02905036

A new case of γ-heavy chain disease (LIA protein) with deletion of the hinge region

Claudio Santoro, Mario De Marchi, Erna van Loghem, Gerda de Lange, Giorgio Malfi, Adriano Vitelli, Angelo O. Carbonara

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

An IgG1K monoclonal component with abnormal covalent H and L chains structure (LIA protein) was identified during a systematic screening of myeloma proteins by means of nonreducing/reducing SDS-polyacrylamide gel electrophoresis. Using immunochemical and immunogenetic analysis the mutation was characterized as a hinge region deletion, with loss of L-H and H-H disulphide bridges and direct L-L bonds. Moreover, non-expression of the Glm(z) allotype suggested that the deletion might start at residue 216, a preferential site previously observed in other HCD proteins. This feature is in agreement with the discontinuous structure of immunoglobulin C_H genes and suggests that an abnormal switch mechanism is responsible for the deletion.

Lingua originale	Inglese
pagine (da-a)	21-28
Numero di pagine	8
Rivista	La Ricerca in Clinica e in Laboratorio
Volume	14
Numero di pubblicazione	1
DOI	https://doi.org/10.1007/BF02905036
Stato di pubblicazione	Pubblicato - gen 1984
Pubblicato esternamente	Sì

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10.1007/BF02905036

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title = "A new case of γ-heavy chain disease (LIA protein) with deletion of the hinge region",

abstract = "An IgG1K monoclonal component with abnormal covalent H and L chains structure (LIA protein) was identified during a systematic screening of myeloma proteins by means of nonreducing/reducing SDS-polyacrylamide gel electrophoresis. Using immunochemical and immunogenetic analysis the mutation was characterized as a hinge region deletion, with loss of L-H and H-H disulphide bridges and direct L-L bonds. Moreover, non-expression of the Glm(z) allotype suggested that the deletion might start at residue 216, a preferential site previously observed in other HCD proteins. This feature is in agreement with the discontinuous structure of immunoglobulin CH genes and suggests that an abnormal switch mechanism is responsible for the deletion.",

keywords = "Heavy chain diseases, Hinge region deletion, Immunoglobulins, LIA protein, Monoclonal components, Myeloma proteins, SDS-PAGE electrophoresis",

author = "Claudio Santoro and {De Marchi}, Mario and {van Loghem}, Erna and {de Lange}, Gerda and Giorgio Malfi and Adriano Vitelli and Carbonara, {Angelo O.}",

year = "1984",

month = jan,

doi = "10.1007/BF02905036",

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T1 - A new case of γ-heavy chain disease (LIA protein) with deletion of the hinge region

AU - Santoro, Claudio

AU - De Marchi, Mario

AU - van Loghem, Erna

AU - de Lange, Gerda

AU - Malfi, Giorgio

AU - Vitelli, Adriano

AU - Carbonara, Angelo O.

PY - 1984/1

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N2 - An IgG1K monoclonal component with abnormal covalent H and L chains structure (LIA protein) was identified during a systematic screening of myeloma proteins by means of nonreducing/reducing SDS-polyacrylamide gel electrophoresis. Using immunochemical and immunogenetic analysis the mutation was characterized as a hinge region deletion, with loss of L-H and H-H disulphide bridges and direct L-L bonds. Moreover, non-expression of the Glm(z) allotype suggested that the deletion might start at residue 216, a preferential site previously observed in other HCD proteins. This feature is in agreement with the discontinuous structure of immunoglobulin CH genes and suggests that an abnormal switch mechanism is responsible for the deletion.

AB - An IgG1K monoclonal component with abnormal covalent H and L chains structure (LIA protein) was identified during a systematic screening of myeloma proteins by means of nonreducing/reducing SDS-polyacrylamide gel electrophoresis. Using immunochemical and immunogenetic analysis the mutation was characterized as a hinge region deletion, with loss of L-H and H-H disulphide bridges and direct L-L bonds. Moreover, non-expression of the Glm(z) allotype suggested that the deletion might start at residue 216, a preferential site previously observed in other HCD proteins. This feature is in agreement with the discontinuous structure of immunoglobulin CH genes and suggests that an abnormal switch mechanism is responsible for the deletion.

KW - Heavy chain diseases

KW - Hinge region deletion

KW - Immunoglobulins

KW - LIA protein

KW - Monoclonal components

KW - Myeloma proteins

KW - SDS-PAGE electrophoresis

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DO - 10.1007/BF02905036

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A new case of γ-heavy chain disease (LIA protein) with deletion of the hinge region

Abstract

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