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Le malattie delle catene pesanti

Heavy chain diseases

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La Ricerca in Clinica e in Laboratorio

Riassunto

Questo lavoro, basato sia sulla rassegna della lettetatura che sulla personale esperienza degli A. A., descrive 1e caratteristiche cliniche, anatomo-patologiche ed immunologiche di una série di sindromi recentemente descritte, denominate « malattie delle catene pesanti ». Pur trattandosi di affezioni eterogenee sul piano clinico ed istopatologico, esse sono contraddistinte da un’alterazione immunologica sostanzialmente simile, consistente nell’accumulo nel siero (e talora anche nell’escrezione in altri liquidi biologici) di una peculiare immunoglobulina priva di catene leggere e corrispondente al frammento Fc delle catene pesanti di una determinata classe immunoglobulinica. Le forme finora descritte comprendono 1e malattie delle catene γ, α e mu che interes-sano rispettivamente 1e Immunoglobuline G, A ed M. Le malattie delle catene λ ed 03B5 (corrispondenti alle IgD ed IgE), pur ipotizzate, non sono state ancora descritte. Gli studi strutturali di tali protéine abnormi sembrano indicare che 1a loro anomalia consista in un processo di dele-zione interna, che si traduce nella mancata sintesi di gran parte del frammento Fd della catena pesante. Sono infine brevemente discussi l’inquadramento nosologico di tali forme e 1e misure terapeutiche adottate.

Summary

This paper, based on the review of the literature as well as on the authors’ personal experience, describes the clinical, pathological and immunological characters of a series of newly described syndromes, called « heavy-chain diseases ». Despite clinical and histopathological heterogeneity, their common hallmark is an immunological abnormality basically similar in all cases, namely the accumulation in the blood (occasionally also the excretion in other biological fluids) of a peculiar Immunoglobulin, which is devoid of light chains and corresponds to the Fc fragment of heavy chains from a certain Immunoglobulin class, γ -, α - and mu-chain disease have been described so far, involving respectively the immunoglobulins G, A and M. λ-chain and ε-chain diseases (corresponding to IgD and IgE), although postulated, are yet to be described. Structural studies of these anomalous proteins seem to indicate that an internal deletion is the underlying abnormality, which accounts for the lack of synthesis of the Fd fragment. Finally, the nosologie assignment of the heavy chain diseases and the therapeutic agents employed are briefly discussed.

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Authors and Affiliations

  1. Istituto di Clinica Medica II dell’Università degli Studi di Bari, 70124, Bari, Italy

    Franco Dammacco & Lorenzo Bonomo

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  1. Franco Dammacco
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  2. Lorenzo Bonomo
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This research was performed with a grant- in- aid of Consiglio Nazionale delle Ricerche, gruppo Immunologia, Roma, Italy. (Contratto n. 71.00784.04).

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Dammacco, F., Bonomo, L. Le malattie delle catene pesanti. La Ricerca Clin. Lab. 1, 542–588 (1971). https://doi.org/10.1007/BF03054476

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