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Abstract
Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. The patient diagnoses included severe combined immunodeficiency (n=11), Chediak-Higashi syndrome (n=2), leukocyte adhesion deficiency (n=2), MHC class 2 deficiency (n=2), chronic granulomatous syndrome (n=2), hemophagocytic lymphohistiocytosis (n=1), Wiskott-Aldrich syndrome (n=1), and Omenn syndrome (n=1). Of the 22 patients, 7 received human leukocyte antigen-matched related hematopoietic stem cell transplantation, 12 received haploidentical hematopoietic stem cell transplantation, and 2 received matched unrelated hematopoietic stem cell transplantation. The results showed that 5 patients had graft failure. Fourteen patients survived, yielding an overall survival rate of 67%. Screening newborn infants for primary immunodeficiency diseases may result in timely administration of hematopoietic stem cell transplantation.
Keywords: Hematopoietic stem cell, Transplantation, Children, Immunodeficiency
Öz
Birçok kombine primer immün yetmezlik ve fagositer bozukluk için hematopoetik kök hücre nakli küratif bir tedavidir. Bu çalışmada, primer immün yetmezlik tanısı alan ve hematopoetik kök hücre nakli yapılan hastaları retrospektif olarak inceledik. Yirmi iki hasta belirlendi. Hastaların hematopoetik kök hücre nakli sırasındaki ortanca yaşları 6 ay (minimum-maksimum: 1 ay-10 yaş) idi. Hastaların tanıları ağır kombine immün yetmezlik (n=11), Cheidak Higashi sendromu (n=2), lökosit adezyon defekti (n=2), MHC sınıf-2 eksikliği (n=2), kronik granülomatoz hastalık (n=2), hemofagositik lenfohistiyositoz (n=1), Wiskott-Aldrich sendromu (n=1) ve Omenn's sendromu (n=1) idi. Yedi hastaya tam insan lökosit antijen uyumlu, 12 hastaya yarı uyumlu ve 2 hastaya insan lökosit antijen uyumsuz vericiden hematopoetik kök hücre nakli yapıldı. Beş hasta da graft başarısız oldu. On dört hasta hayatta kaldı ve ortalama sağkalım %67 idi. Bu hastalık için yenidoğan taramaları yapılması ile hematopoetik kök hücre transplantasyonları zamanında yapılabilir.
Anahtar Sözcükler: Hematopoetik kök hücre, Transplantasyon, Çocuk, İmmün yetmezlik
Introduction
Primary immunodeficiency (PID) disorders are a group of heterogeneous diseases, many of which are caused by monogenic defects, resulting in susceptibility to life-threatening infections, uncontrolled inflammation, or autoimmunity. In 1968, successful transplantation was performed in two patients, one with severe combined immunodeficiency (SCID) and one with Wiskott-Aldrich syndrome (WAS). These cases represented the first successful hematopoietic stem...