Abstract
Primary immunodeficiencies (PID) are rare, congenital disorders, often associated with genetic defects in the immune system. According to our current knowlegde, about 350 genes are involved in distinct immunodeficiency disorders. In PIDs at least one, and often more, immune component is impaired, missing, or has an inappropriate function. The prevalence of PID has been increasing. Due to advances in the treatment of PID, especially immunoglobulin replacement therapy and stem cell transplantation, the life expectancy of patients is longer. As patients with PID live longer, malignancies are diagnosed more commonly. Patients with PID are at an increased risk of malignancy compared with the normal population. Malignancy is the second most common cause of death in these patients after infections. The aim of this article is to review the malignancies and their clinical relevance in patients with PID. Orv Hetil. 2018; 159(49); 2073-2078.
Highlights
A primer immundefektusok (PID) ritka, veleszületett, többnyire öröklődő immunhiányos állapotok
According to our current knowlegde, about 350 genes are involved in distinct immunodeficiency disorders
Patients with PID are at an increased risk of malignancy compared with the normal population
Summary
Mivel a PID-es betegek tovább élnek, mint néhány évtizeddel ezelőtt, több rosszindulatú daganatos megbetegedést is diagnosztizálunk náluk. AT = ataxia teleangiectasia; ATM = az ataxia teleangiectasia gén mutációja; CTL = cytotoxicus T-lymphocyta; CVID = (common variable immunodeficiency) variábilis immunhiány; DLBCL = diffúz, nagy B-sejtes lymphoma; DNS = dezoxiribonukleinsav; EBV = Epstein–Barr-vírus; HBV = hepatitis B-vírus; HCV = hepatitis C-vírus; HD = Hodgkin-kór; HPV = humán papillomavírus; HTLV = humán T-sejtes leukaemialymphoma vírus; KS = Kaposi-sarcoma; MALT = (mucosa-associated lymphoid tissue) mucosaasszociált lymphoid szövet; NHL = non-Hodgkin-lymphoma; PID = (primary immunodeficiency) primer immundefektus; SAP = jelátviteliadapter-protein; SCID = (severe combined immunodeficiency) súlyos kombinált immunhiányos állapot; SLAM = (signaling lymphocyte activating molecule) jeladó lymphocyta aktiváló molekula; WAS = Wiskott–Aldrich-szindróma; WASP = WAS-protein; XLP = (X-linked lymphoproliferative disease) X-kromoszómához kötött lymphoproliferativ szindróma. Az esetek további 30%-át Wiskott–Aldrichszindrómában (WAS), súlyos kombinált immunodeficientiánál (SCID) és szelektív IgA-hiányban diagnosztizáljuk
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