AI Summary & Key Takeaways
AI InsightHe died because of sepsis and multi-organ failure as stem cell transplantation could not be performed immediately after diagnosis.
📌 3 Key Takeaways
Abstract
Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder characterized by defects in human leukocyte antigen class II expression and lack of cellular and humoral immune responses to foreign antigens. Clinical onset occurs early in life with recurrent infections and chronic diarrhea. The prognosis is poor and only curative treatment is stem cell transplantaiion (SCT) performed early in life. In this report, we present a patient who had immune deficiency caused by MHC Class II expression defect. He died because of sepsis and multi-organ failure as stem cell transplantation could not be performed immediately after diagnosis.
Özet
Major histokompatibilite kompleks (MHC) II eksikliği insan lökosit antijenlerinden sınıf II ekspresyon defekti ile karakterize, nadir görülen bir primer immun yetmezliktir. Hastalıkta hem sellüler hem de humoral immun yanıt eksikliği olması nedeniyle yaşamın erken döneminde tekrarlayan enfeksiyonlar ve kronik diyare görülür. Prognozu kötü olan bu hastalıkta kok hücre nakli (KHN) tek kiiratif tedauidir. Bu yazıda HLA uygun donörü olmayan ve alternatif donörden yapılacak nakil için ailenin onay vermediği, sepsis ve multiorgan yetmezliği ile kaybedilmiş MHC Class II ekspresyon defekti olan bir olgu sunulmuştur.