Sindrome da deficit di adesione leucocitaria

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Sindrome da deficit di adesione leucocitaria
Specialitàimmunologia
Classificazione e risorse esterne (EN)
OMIM116920
MeSHD018370
eMedicine887236
Modifica dati su Wikidata · Manuale

La sindrome da deficit di adesione leucocitaria o LAD (Leukocyte Adhesion Deficiency) è un gruppo di malattie a trasmissione autosomica recessiva causate da difetti a carico di molecole di adesione leucocitarie ed endoteliali che causano immunodeficienza.

Eziologia

Le cause di tale sindrome sono mutazioni a carico di diversi geni che codificano per diverse melecole di adesione. In base al tipo di mutazione si distinguono:

LAD-1: mutazione a carico del geni che codifica per CD18, causando ridotto "rolling" e ridotta migrazione leucocitaria;

LAD-2: mutazione a carico del gene che codifica per il trasportatore GDP-fucosio necessario alla sintesi del sialil-Lewis X, carboidrati sialilati che interagiscono con le E-selectine e P-selectine endoteliali, causando ridotto "rolling" e ridotta migrazione leucocitaria.

LAD-3: mutazione in RASGRP2 e FERMT3, che porta ad assenza totale di Kindlina 3, fattore implicato nell'attivazione delle integrine, soprattutto β2 e β3, oltre che nel favorire l'aggregazione piastrinica (i pazienti presentano problemi relativi al sanguinamento).

Epidemiologia

Non sono molti i casi di tale sindrome riscontrati in campo medico, nel mondo sono stati rilevati solo poche centinaia di manifestazioni. Se in famiglia si è riscontrato un caso, gli altri componenti diventano soggetti a rischio, poiché la sindrome ha trasmissione genetica.

Sintomatologia

Evidenti fattori di rischio di tale sindrome sono infiammazione, infezioni ricorrenti da piogeni, polmonite, ritardata separazione dell'individuo dal cordone ombelicale e lenta coagulazione del sangue a seguito di ferite causate da un deficit di adesione cellulare nel soggetto.

Terapie

Una volta individuato un caso la terapia con cui viene trattata è il trapianto del midollo osseo, anche se si stanno studiando terapie genetiche.

Bibliografia

Voci correlate

Collegamenti esterni

  Portale Biologia

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