Problemi speciali
Sindromi, genetica e immunologia: dall’inizio della fine alla fine dell’inizio
Syndromes, genetics and immunology: from the beginning of the end to the end of the beginning
Fabiola Guerra1,2, Francesco Saettini2, Andrea Biondi
1Pediatria, 2Centro Tettamanti, Fondazione IRCCS “San Gerardo dei Tintori”, Monza
3Dipartimento di Medicina e Chirurgia, Università “Milano-Bicocca”, Monza
Novembre 2023 - pagg. 569 -574 | DOI: 10.53126/MEB42569
Abstract
Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical problem (i.e. DiGeorge syndrome, ataxia-telangiectasia, CHARGE syndrome, Kabuki syndrome etc.). Along with well-known and recognized syndromic immunodeficiencies, immunological abnormalities have been recently described in genetic syndromes that were not previously considered as inborn errors of immunity. The paper describes the cases of two patients affected by two rare genetic syndromes, namely Jacobsen syndrome and Rubinstein-Taybi syndrome. In the first case, the immunological phenotype of Jacobsen syndrome has been expanded. In the second, the growing body of evidence has pointed out that patients with Rubinstein-Taybi syndrome may present with immunological abnormalities.
Riassunto
Le immunodeficienze sindromiche sono condizioni in cui il difetto immunologico rientra in un quadro clinico più complesso (es. sindrome di DiGeorge, atassia-teleangectasia, CHARGE, sindrome di Kabuki ecc.). Numerosi lavori hanno recentemente descritto anomalie immunologiche in un numero sempre maggiore di sindromi genetiche (nuove sindromi, sindromi note ma in cui il difetto non era fino a quel momento stato riconosciuto oppure sindromi in cui il fenotipo immunologico è stato ampliato). Per tale ragione, presentiamo due casi clinici esemplificativi che illustrano due sindromi genetiche rare e note. In un caso, la sindrome di Jacobsen, si è assistito a un ampliamento del fenotipo immunologico. Nel secondo, la sindrome di Rubinstein-Taybi, il difetto immunologico è stato solo recentemente descritto.
Classificazione MeSH
Contenuto riservato
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Bibliografia
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Corrispondenza: f.saettini@gmail.com