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2014 ; 176
(3
): 387-93
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The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the
ESID online database
#MMPMID24506305
Schatorjé EJ
; Gathmann B
; van Hout RW
; de Vries E
Clin Exp Immunol
2014[Jun]; 176
(3
): 387-93
PMID24506305
show ga
Hypogammaglobulinaemias 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 5ˇ3 years; mean age
females 5ˇ8 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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