Recurrent infections and bilateral uveitis in a patient with CD8 deficiency

CD8 deficiency is a rare primary immunodeficiency with low or absent peripheral CD8 cells which results from TAP deficiency, Zap 70 deficiency and CD8 alpha 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 8 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 CD8: 0 to 2% [absolute count, 0-60 cells/mm3] with increased CD4/CD8 ratio on several occasions. Diagnosis of this patient cannot be HLA class I deficiency [TAP1 or TAP2], because class I expression had been normal. It is possible to be Zap -70 deficiency or CD8 alpha gene mutation. Bilateral uveitis in our patient was a unique presentation which might have resulted because of immune dysregulation in CID

Mortality in primary immunodeficient patients, registered in Iranian primary immunodeficiency registry

Primary immunodeficiencies [PID] are a group of disorders, characterized by an unusual susceptibility to infections. Delay in diagnosis results in increased morbidity and mortality in affected patients. The purpose of this study was to determine the mortality rate of Iranian immunodeficient patients referred to Children Medical Center Hospital affiliated to Tehran University of Medical Sciences over a period of 20 years. In this study, records of 235 [146 males, 89 females] patients with immunodeficiency who were diagnosed and followed in our center, during 22 years period [1979 2001] were reviewed. The diagnosis of immunodeficiency was based on the standard criteria. The cause of death was determined by review of death certificates. Antibody deficiency was the most common diagnosis made in our patients. The overall five-year survival rate was 22.7% in our studied patient group; this was greatest in antibody deficiency. During the 22 year period of study, 32 patients died. As some of the patients could not be located, the true mortality rate ranged between 13.6% and 17.5%. The main leading cause of death were lower respiratory tract involvement in 14 cases [44%]. The most common pathogenic microorganisms causing fatal infections were psudomonas and staphylococcus in 9 cases [28.1%] followed by E. coli in 7 [21.9%], tuberculosis in 13 [40.6%] and salmonella in 1 [3.1%]. Based on our study, delay in diagnosis in patients with PID results in tissue and organ damage and several complications. Mortality and morbidity are increased in undiagnosed patients

Report of six cases of Chediak-Higashi syndrome with regard to clinical and laboratory findings

Chediak Higashi Syndrome [CHS] is a rare, primary immunodeficiency disorder with an autosomal recessive [AR] inheritance and characterized by recurrent infection, partial occulocutaneous albinism and an accelerated phase. In this report we describe clinical and laboratory findings from 6 CHS patients. Clinical and laboratory information of six patients who were referred to our center during the last 20 years [from 1983 - 2003] were reviewed. Onset age of disease was between 3 months to 10 years. All patients had history of consanguineous parents and two patients were siblings. All patients had oculocutaneous albinism, nystagmus, recurrent infections which included upper and lower respiratory tract [U and LRT] infections, stomatitis, thrush, and skin abscesses and hepatitis. In laboratory findings, all patients had neutropenia and normal immunoglobulins and normal CD3, CD4, and CD8, CD19 Lymphocyte by flowcytometry and three of the four patients had chemotatic defect. Five patients certainly had giant granule in bone marrow neutrophil and in one patient it was equiovocal. Three patients had an accelerated phase, and for one patient bone marrow transplantation was done that was tolerated well and had been well after 7 years. We emphasize the need for early diagnosis on basis of characteristic facies and diagnostic laboratory examinations and early bone marrow transplantation [BMT] in patients