ABSTRACT Primary immunodeficiencies include a variety of disorders that render patients more susceptible to infections. If left untreated, these infections may be fatal. The disorders constitute a spectrum of more than 80 innate defects in the body's immune system. Primary immunodeficiencies generally are considered to be relatively uncommon. There may be as many as 500,000 cases in the United States, of which about 50,000 cases are diagnosed each year. Common primary immunodeficiencies include disorders of humoral immunity (affecting B-cell differentiation or antibody production), T-cell defects and combined B- and T-cell defects, phagocytic disorders, and complement deficiencies. Major indications of these disorders include multiple infections despite aggressive treatment, infections with unusual or opportunistic organisms, failure to thrive or poor growth, and a positive family history. Early recognition and diagnosis can alter the course of primary immunodeficiencies significantly and have a positive effect on patient outcome.
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Article: Das GOOD Syndrom
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ABSTRACT: Primary immunodeficiencies (PIDs) are a relatively common occurrence in countries where consanguineous marriages are widespread. A principal factor leading to misdiagnosis and ensuing complications can be the lack of knowledge and proper evaluation. The aim of this study was to assess PID awareness and the identification of diagnostic criteria leading to correct diagnosis. Seven hundred eighty-six questionnaires with 71 items were distributed to physicians attending the 41st National Congress of Pediatrics (2005) and to pediatric residents of two university hospitals from different cities in Turkey. The 217 completed questionnaires revealed that family history (91.2%), consanguineous marriages (87.1%), infant deaths (70.0%), persistent thrush (90.3%), hospitalization for recurrent cellulitis (70.5%), chronic diarrhea due to giardiasis (62.2%), recurrent oral aphthous lesions (58.5%), telangiectasia (82.0%), failure to thrive (78.8%), absence of tonsil tissue (74.7%), oculocutaneous albinism (73.7%), and resistant sinusitis (71.0%) were cited among important indicators of PID. However, neonatal tetany (77.9%), liver abscess (61.3%) and poliomyelitis following oral polio vaccination (51.2%) were not considered as related to PID. Although white blood cell (WBC) and differential were chosen as the preferred initial tests, leukocytosis and lymphopenia were also not judged as related to PID. More comprehensive pre/postgraduate education in PID appears to be necessary for physicians in Turkey.The Turkish journal of pediatrics 07/2010; 52(4):372-7. · 0.43 Impact Factor
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ABSTRACT: Nutrition is an important factor that influences immunity, and nutritional deficiencies can impair resistance to infections. Malnutrition is the most common cause of immunodeficiency worldwide. Trace elements such as zinc, selenium, iron, and copper can influence several components of immunity. Primary antibody deficiency disorders are a group of disorders characterized by an unusual susceptibility to infections and malnutrition. Impaired nutritional status has been reported in immunodeficient patients. The aim of this study was to determine anthropometric indices and trace elements status in these patients. Thirty-eight children (28 males, 10 females, aged 2-18 years) with primary antibody deficiency referring to Children's Medical Center of Tehran University of Medical Science were enrolled in this research. Primary immunodeficiency disorders consisting of CVID, XLA, IgA deficiency, IgG subclass deficiency, and hyper IgM were assessed. Anthropometric indices, comprised of height, weight that were measured and body mass index (BMI) was calculated. Height-for-age (HAZ), weight-for-height (WHZ) and weight-for-age (WAZ) were determined according to Z-score to study mild, moderate and severe malnutrition. Serum copper, zinc, selenium and iron levels were measured by an atomic absorption spectrometer. The most common disorders were CVID 52.5% and X-linked agammaglobulinaemia 27.5%. Based on BMI measurements 21.1% of patients had malnutrition. According to HAZ, 13.2%, 13.2% and 36.8% had severe, moderate and mild malnutrition, respectively. According to WAZ, 10.5%, 18.4% and 28.6% had severe, moderate and mild malnutrition, respectively. Regarding to WHZ, 14.3% and 28.6% had moderate and mild malnutrition, respectively. Low selenium levels and high copper levels were observed in 37.5% and 70.3%, respectively. Anthropometric data showed that the frequency of malnutrition in these patients was higher than the CDC standard. Low serum selenium levels and high serum copper levels were observed, suggesting further research is needed on these parameters. Most of the patients had serum zinc and iron levels within the normal range. It is recommeded that clinical immunologists and nutritionists should make a collective effort to provide these patients with standard or specialized diets so as to decrease the risk of infection.Iranian journal of allergy, asthma, and immunology 01/2005; 3(4):189-96. · 0.99 Impact Factor