Patient-Centred Screening for Primary Immunodeficiency, a Multi-Stage Diagnostic Protocol Designed for Nonimmunologists: 2011 Update

Вриз, де; Кардона, Альварес; Абдул-Латиф, Х.; Бадолато,; Бродшки,; Кант, Дж.; Карбоне,; Kasper, Travis; Чижняр,; Кочино, В.; Дерфальви,; Дриссен, Й.; Эльфеки,; Эль-Гонейми,; Эспаньол,; Ациони,; Гамбинери,; Гилмор,; Гонсалес-Гранадо, И.; Guseva, Natalya V.; Array, М Х; Хельминен,; Хёниг,; Канариу, Г.; Киршфинк,; Кляйн,; Кёйперс, B.; Кутукджюлер,; Мартире,; Мейтс,; Нихюэс,; Пиньята,; Рида, Array М.; Renner, D.; Резаеи,; Рицци,; Лайнс, А. Сампало; Саргур, Б.; Седива,; Зайдель, Г.; Seneviratne, Lasika; Солер-Паласин,; Томмазини,; Варнатц,

doi:10.15789/1563-0625-2013-5-477-492

Cited by 13 publications

(14 citation statements)

References 22 publications

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“…Continuing education and training programmes are needed for paediatricians and general practitioners, as well as for specialists, in order to ensure that they can recognise the warning signs for PIDs, and particularly for those practicing in regions away from large cities. 23 Physicians who are not experts in the diagnosis and treatment of PID may not recognise affected patients due to the diversity of immune defects and their respective clinical presentations. 24,25 Although the great majority of the known PID disorders are present in infancy and childhood, some diseases will only be diagnosed in adulthood.…”

Section: Discussionmentioning

confidence: 99%

Doctors’ awareness concerning primary immunodeficiencies in Brazil

Dantas¹,

Aranda²,

Silva³

et al. 2015

Allergologia et Immunopathologia

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Section: Discussionmentioning

confidence: 99%

Doctors’ awareness concerning primary immunodeficiencies in Brazil

Dantas¹,

Aranda²,

Silva³

et al. 2015

Allergologia et Immunopathologia

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“…We categorized them as low, normal or high for age [8]; 643 (44%), 796 (54%) and 30 (2%) patients showed low, normal and high IgA levels at presentation, and 107 (7%), 1313 (89%) and 57 (4%) patients showed low, normal and high IgM levels at presentation, respectively (Fig. 2).…”

Section: Laboratory Characteristicsmentioning

confidence: 99%

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Schatorjé

Gathmann

Hout

et al. 2014

Clinical and Experimental Immunology

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SummaryHypogammaglobulinaemias are the most common primary immunodeficiency diseases. This group of diseases is very heterogeneous, and little is known about these diseases in children. In the Pediatric Predominantly Antibody Deficiencies (PedPAD) study, we analysed data from the European Society for Immunodeficiencies (ESID) online database to gain more insight into the characteristics of children with hypogammaglobulinaemia; 46 centres in 18 different countries agreed to participate. Data from 2076 of the 3191 children who were registered at the time of data extraction with a diagnosis of hypogammaglobulinaemia (this excludes agammaglobulinaemia and defects in class-switch recombination) were available for analysis. The data set showed several limitations. Because of country-related differences in diagnostic criteria used for the classification of different types of primary hypogammaglobulinaemia, further analysis of the data was performed in the combined data set. The most striking observation is the strong majority of male patients in the group of children with primary hypogammaglobulinaemia (n = 1292, 63%). This male predominance was observed in each of the 18 countries involved. The boys were younger at diagnosis (mean age males 5·3 years; mean age females 5·8 years). Moreover, one or more complications were more frequently reported in boys (12%) compared to girls (5%). The male predominance suggests that patients with an undetected or unknown X-linked genetic cause are included in this group of children registered as primary hypogammaglobulinaemia.

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“…Significant efforts have been made to reduce diagnostic delay in primary immunodeficiency through education. The European Society for Immunodeficiency (ESID) has developed diagnostic pathways for nonimmunologists [14] and the Jeffrey Modell Foundation (JMF) '10 Warning Signs of Immunodeficiency' are widely available, although limitations in applying these to children have been described (http://www.info4pi.org/library/edu cational-materials/10-warning-signs) [15,16]. If immunodeficiency is not considered as part of the differential diagnosis, these documents will not be consulted and the diagnosis may be overlooked.…”

Section: Key Pointsmentioning

confidence: 99%