Background Hoyeraal–Hreidarsson syndrome (HHS) is a rare multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, neurological deficits, aplastic anemia, and immunodeficiency. HHS is a severe variant of Dyskeratosis Congenita (DC) that displays clinical features overlapping DC, with T, B and NK immunodeficiency. Both genetic disorders presents ...

Good’s syndrome (thymoma with immunodeficiency) is a rare cause of combined B and T cell immunodeficiency in adults. The clinical characteristics of Good’s syndrome are increased susceptibility to bacterial infections with encapsulated organisms and opportunistic viral and fungal infections. The most consistent immunological abnormalities are hypogammaglobulinaemia and reduced or absent B cells...

BACKGROUND The aim of this work was to describe the frequency and spectrum of sinopulmonary complications among subjects with primary immunodeficiency disorders. METHODS The subjects included all patients with primary immunodeficiency who were registered prospectively between January 2004 and December 2013 in the Kuwait National Primary Immunodeficiency Disorders Registry. RESULTS A total o...

A severe combined immunodeficiency disorder was demonstrated in two Arabian foals which were full siblings. The defect in the B-lymphocyte system was shown by hypogammaglobulinemia, lymphopenia, and absence of germinal centers. The almost total absence of thymic tissue in one foal and the lack of thymic dependent lymphocytes in the spleens of both foals demonstrate a T-lymphocyte defect. In a r...

chronic granulomatous disease (cgd) is a rare primary immunodeficiency disease. although the most affected patients are diagnosed in childhood, there are several reports of the disease presenting in adult patients. here we present a 40 years old man who was admitted in hospital due to respiratory symptoms and ground glass pattern in high resolution computed tomography of lung. open lung biopsy ...

chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...

schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. mutations in swi/snf2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (smarcal1) gene are responsible for the disease. the present report describes, for the first tim...

  Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...

Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the f...

common variable immunodeficiency (cvid) is one of the primary immunodeficiencies, which usually presents with recurrent bacterial infections, particularly in respiratory and gastrointestinal systems and hypogammaglobulinemia. we present here a case of cvid who was suffering from chronic watery diarrhea since 3 months before admission. past medical history was uneventful about recurrent infectio...