مرکز منطقه ای اطلاع رساني علوم و فناوري -

چكيده لاتين :

CDS deficiency is a rare primary immunodeficiency with low or absent peripheral CDS cells which results from TAP deficiency, Zap 70 deficiency and CDS a gene mutation. We report a 14 year old female who presented with a history of recurrent pneumonia, bronchiectasis, otitis, severe varicella, herpetic lesions of mouth, bilateral uveitis, and cataract formation since the age of S years. She had growth failure, a huge spleen and moderate clubbing. In immunologic workup, humoral and phagocytic systems were normal. DTH response to candida, PPD and DT were negative but LTT response to PHA mitogen was normal. HLA typing showed normal class I expression. Flowcytometry of peripheral blood showed CDS: 0 to 2% (absolute count, 0-60 cells/mrrrי) with increased CD4/CDS ratio on several occasions. Diagnosis of this patient cannot be HLA class r deficiency (TAP 1 or TAP2), because class I expression had been normal. It is possible to be Zap -70 deficiency or CDS a gene mutation. Bilateral uveitis in our patient was a unique presentation which might have resulted because of immune dysregulation in CID.