INTRODUCTION About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge, the mutation pattern in Arab patients with severe combined immunodeficiency has never been reported previously. CASE PRESENTATION A 14-month-old Arab boy had clinical features typical of severe...

unfortunately, we do not know how many perinatally (human immunodeficiency virus) hiv-infected pepole are living in contries today, while knowing these informations is necessary. unaids reports that there are 3.4 million children under 15 years of age with hiv and 2 million adolescents between 10 and 19 years of age. although the vast majority of children were perinatally infected, older childr...

Results Case report: P.G.O, 9 years old, product of healthy and not consanguinity parents. At age 6 days started a recurrent intestinal bleeding, hypoactivity and fever and was hospitalized with a diagnosis of enterocolitis and sepsis by E.coli. Five days later presented cellulitis and infectious vasculitis in members with decrease of C3. Over the years presented several episodes of pneumonia, ...

The association of multiple non-caseating granulomata and a positive Kviem test is normally considered to be indicative of a diagnosis of sarcoidosis. However, although depressed cell-mediated immunity is commonly described, it is extremely rare to find a humoral immune paresis. A patient is reported who had multiple granulomata, depressed cellular and humoral immunity and a positive Kveim test.

Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and emphasises the multidisciplinary approach needed ...

Goods Syndrome (GS) is a rare adult-onset combined immunodeficiency characterized by thymoma, hypogammaglobulinaemia and B- cell depletion. Patients with GS are predisposed to recurrent infections.