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Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, telangiectasia, chromosomal instability, cancer susceptibility and radiation sensitivity. The ataxia telangiectasia gene is located on chromosome 11q22-23. Various degrees of abnormalities in T and B cell immunity have been described. We report a 9-year-old boy diagnosed as ataxia telangiectasia including clinical features of progressive ataxia, telangiectasia, immunodeficiency and elevated serum levels of alpha fetoprotein. Immunologic evaluation revealed high levels of serum IgM and very low IgG and IgA levels. Immune fixation electrophoresis showed monoclonal IgM and kappa increase. His lymphocyte phenotyping studies and CD40 ligand on T lymphocytes were normal. His monoclonal gammapathy of the IgM type was attributed to failure of the switch process from IgM production to IgA and IgG, due to a recombination defect.

Common variable immunodeficiency (CVID) is a condition characterized by an impairment in antibody production resulting in recurrent bacterial infections in untreated patients. Abnormalities of both B and T cells have been described. Affected individuals exhibit an increased incidence of inflammatory bowel disease, autoimmunity and malignancy. In this study, the clinical and laboratory data for 8 patients with CVID diagnosed and treated between January 1994 and January 2001 were evaluated. The onset of infectious signs and symptoms were 3.5 ± 2.67 years, the mean age of diagnosis was 8.79 ± 3.23 years and the diagnosis was delayed for 5.25 ± 2.52 years Recurrent sinopulmonary infections (%75) and chronic diarrhea (%50) were the most significant clinical features. In one patient, polyarthritis was the initial clinical manifestation. All patients presented with hypogammaglobulinemia and absence of specific antibody (antitetanus) responses. In 5 patients CD4/CD8 ratio was inverted. The patients were followed for a period of 21.5+18.5 months Three patients (%37.5) with pulmonary complaints progressed to bronchiectasis, while one patient develope inflammatory bowel disease in follow up. This patient died with bronchiectasis, pulmonary fibrosis and respiratory tailu despite adequate immunoglobulin replacement therapy. Minimalization of the complications in such a disease with hig mortality and morbidity rates is achieved by adequate treatment on a periodic basis in the remaining seven patients., Sık görülen değişken immun yetersizlik (CVID) antikor üretiminde defekt ile karakterize olup yineleyen bakteriyel infeksiyonlara yol açan bir immun yetmezliktir. Hem B hem de T lenfositlerde anormalikler tanımlanmıştır Hastalarda inflamatuvar barsak hastalığı, otoimmun hastalık ve malignite insidensinde artış vardır. Bu çalışmada Ocak 1994 - Ocak 2001 yılları arasında tanı konarak tedaviye alınan 8 CVID'li hastanın klinik ve laboratuvar verilen değerlendirildi. infeksiyonların başlangıç yaşı 3.5 ± 2.67 yıl, tanı anında yaş 8.79 ± 3.23 yıl olup tanı gecikmesi 5.25 ± 2.52 yıl idi. Yineleyen sinopulmoner infeksiyonlar (%75) ve kronik ishal (%50) en önemli klinik yakınmalar idi. Bir hastada ise poliartrit ilk başvuru yakınmasıydı. Tüm hastalarda hipogamaglobulinemi ve spesifik antikor (antitetanus) yanıt eksikliği tespit edildi Beş hastada CD4/CD8 oranında tersine dönme saplandı Hastalar ortalama 21.5 ± 18.5 ay süreyle izlendi. İzlemde solunum sistemine ait yakınmaları olan 3 hastada (%37.5) bronşektazi gözlendi. Bir hastada ise inflamatuvar barsak hastalığı gelişti. Bu hasta düzenli intravenoz immunglobulin replasmanına (IVIG) rağmen bronşektazi, pulmoner fibrozis ve solunum yetmezliği tablosunda kaybedildi Morbiditesi ve mortalitesi yüksek olan bu hastalıkta uygun ve düzenli tedavi ile geri kalan 7 hastada, komplikasyonların en aza indirilmesi sağlandı.