Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution's experience.

ABSTRACT

AIM: The aim of this study was to identify the clinical and immunologic features of patients with 22q11.2 deletion syndrome who were followed up in our clinic. Thus, it is aimed to identify the syndrome early, choose the right treatment options according to humoral and cellular immunologic analysis, and enlighten how to follow up these kinds of patients with immunodeficiencies. MATERIAL AND METHODS: We retrospectively collected data by reviewing the files of 11 patients with 22q11.2 deletion syndrome who were followed up in our clinic between January 2003 and January 2015. The diagnoses were based on the patients' clinical, genetic, and immunologic features. Demographic features, family history, initial symptoms on admission, physical findings, and results of immunologic studies of the patients. Age of diagnosis, treatment options, and clinical follow-up were evaluated. RESULTS: The patients' diagnosis age ranged from 1-11 months and the most common symptoms of admission were cardiac murmur and atypical facial appearance, which were detected during a routine physical examination. All patients had cardiac anomalies, and four patients had a history of cardiovascular surgery. Eight patients (72.7%) had a history of severe infection; recurrent lower respiratory tract infections were reported in six patients (54.5%), pulmonary tuberculosis in one patient (9.1%), and moniliasis resistant to treatment was detected in one patient. None of the patients required intravenous immunoglobulin replacement therapy, and antibiotic prophylaxis was administered to two patients with lymphopenia. CONCLUSION: 22q11.2 deletion syndrome is a multi-systemic disorder that should be evaluated by a multidisciplinary team. It should be kept in mind for patients with neonatal hypocalcemic tetany or recurrent infections or atypical facial appearance with cardiac anomalies. Early diagnosis should lead to immunologic analysis and enable the choice of treatment. Preventive measures against infection is recommended for the patients with incomplete immunodeficiency, and thymus transplantation is recommended for patients with complete immunodeficiency.

RESUMEN

AMAÇ Bu çalismada klinigimizde 22q11.2 delesyon sendromu tanisi ile izlenmekte olan hastalarin klinik ve immünolojik niteliklerinin tanimlanmasi amaçlanmistir. Böylece hastaligin erken taninmasina yardimci olmak, humoral ve hücresel immünolojik verilere göre tedavi seçeneklerine yönlendirmek ve bu immün yetersizlik hastalarinin nasil izlenecegine isik tutmak hedeflenmistir. GEREÇ VE YÖNTEMLER Klinigimizde, Ocak 2003-Ocak 2015 tarihleri arasinda 22q11.2 delesyon sendromu tanisi ile izlenmekte olan 11 olgunun dosya verileri geriye dönük olarak incelendi. Hastalarin tanisi; klinik, genetik ve immünolojik niteliklere göre konuldu. Çalismaya alinan tüm hastalarin demografik nitelikleri, aile öyküsü, basvuru yakinmalari, fizik baki bulgulari, immünolojik inceleme sonuçlari, tani yasi, tedavi seçenegi ile klinik izlemleri irdelendi. BULGULAR Hastalarin tani yasi 1-11 ay arasinda degismekte olup, en sik basvuru yakinmasi fizik baki sirasinda farkedilen atipik yüz görünümü ve kalpte duyulan üfürüm idi. Tüm hastalarin kalbinde anomali bulunur iken, dört hastada kardiyovasküler cerrahi girisim öyküsü vardi. Sekiz hastada (%72,7) ciddi enfeksiyon geçirme öyküsü olup; alti hastada (%54,5) sik tekrarlayan alt solunum yolu enfeksiyonu, bir hastada (%9,1) akciger tüberkülozu ve bir hastada (%9,1) inatçi moniliazis saptandi. Lenfopenik olan iki hastaya (%18,2) antibiyotik profilaksisi uygulanirken, hiçbir hastada intravenöz immünglobulin replasman tedavisi gereksinimi olmadi. ÇIKARIMLAR Kromozom 22q11.2 delesyon sendromu, çoklu organ tutulumu nedeniyle birçok uzmanlik daliyla birlikte izlenmelidir. Yenidogan döneminde hipokalsemik tetani geçiren, kalp anomalisine eslik eden atipik yüz görünümü olan ve yineleyen enfeksiyon öyküsü olan hastalarda mutlaka akla getirilmelidir. Erken tani ile hastalarin immün sistem incelemesinin yapilmasi; kismi eksiklik durumunda enfeksiyonlardan koruyucu önlemler alinmasini, tam hücresel immün bozukluk olmasi durumunda ise timus nakli yapilmasina olanak saglayacaktir.