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  • 1 Országos Reumatológiai és Fizioterápiás Intézet, Budapest, Frankel Leó út 38–40., 1023
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Primer immundeficientiákban (PID) az immunrendszer alkotóinak működési és/vagy mennyiségi zavara van jelen. A csont- és ízületi érintettség viszonylag gyakori ezekben a betegségekben, a leggyakrabban humorális immundeficientiákban, valamint a phagocytaszám és -funkció zavaraiban figyelhetők meg (variábilis immundeficientia, agammaglobulinaemia, hiper-IgM-szindróma, IgA-deficientia, glikogéntárolási betegségek). Általában mycoplasma, Staphylococcus, Streptococcus, Pneumococcus és Haemophilus okozta mono-/oligoarthritis formájában jelentkezik. A felsorolt ágensek nemcsak synovialis fertőzést, hanem asepticus arthritogen választ is indukálhatnak. Az arthritiseknél a csontdefektusok ritkábban fordulnak elő, általában humorális immundefektusokban kialakult infekció szövődményeként jönnek létre. Az infekciózus eredetű arthritist, az osteomyelitist minél előbb fel kell ismerni és az antibiotikus kezelést haladéktalanul megkezdeni. Az infekciózus eredetű csont- és ízületi manifesztációkon kívül gyakori az asepticus, általában nem erozív polyarthritis, az alacsony növés és az egyéb csontdeformitások. Kiterjedtebb csontérintettség a ritka hiper-IgE-szindrómában és Di George-szindrómában, valamint spondyloepiphysealis dysplasiával járó kórképekben jelentkezik. Az alacsony növés leginkább a reticularis dysgenesisben, a candidiasissal és ectodermalis dysplasiával járó autoimmun polyendocrinopathiában és a DNS-javítás zavaraival járó betegségekben jellemző. A PID-szindrómák mozgásszervi vonatkozásainak részletes ismerete segítheti az immundeficientia diagnózisát, valamint az immundefektusokhoz társuló csont- és ízületi rendellenességek patofiziológiájának megértését. Purulens vagy steril csont-, illetve ízületi elváltozások jelenlétekor fel kell merülnie a PID diagnózisának. Ha sem lymphoproliferativ betegség, sem infekció nem igazolódik, PID irányában szükséges tovább vizsgálni a beteget. Orv Hetil. 2018; 159(23): 919–928.

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