Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy

Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland

“…In Germany, efforts of consortium of pediatric immunologists in 2009 allowed the creation of the primary immunodeficiency network (PID-NET) project, set up and funded by the German Federal Ministry of Education and Research [12]. Similar plans and networks were set up in other countries as well as in the USA [6,13,16,17,19].…”

“…1). Representatives of PWGID centers meet every year to update newly recognized PID children (0-18 years old) and adults (≥18 years old) according to ESID [www.esid.com] and the International Union of Immunological Societies' (IUIS) criteria [16]. Treatment strategies, including replacement therapy and current problems of PID in Poland, are also discussed.…”

“…Increasing awareness of rare diseases has prompted governments in Europe and North America to assign specific funds to rare diseases. Within the last decade, patient registries have been set up on both national and international levels to gain knowledge about natural history and prevalence of PID, assess the diagnostic delay, identify factors affecting clinical course, and evaluate treatment regimens [11,14,16,18,19]. In November 2004, the French government implemented a National Plan for Rare Diseases, which also triggered the creation of the French National Center for Primary Immunodeficiencies-CEREDITH (Centre de Reference Deficits Immunitaires Hereditaires)-1 year later [6].…”

Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents

“…[5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] Primary immunodeficiencies (PID) such as DNA repair defects (Nijmegen breakage syndrome, Ataxia telangiectasia, Bloom syndrome or constitutional mismatch repair deficiency), severe combined immunodeficiencies (SCID), common variable immunodeficiencies (CVID), and immune-osseous dysplasias (Di George syndrome or cartilage hair hypoplasia) have an extraordinary risk of developing leukemia and lymphoma. [5][6][7][8][9][10][11][12][13][14][15][16][17]20,21 Although these patients seem to have an inferior prognosis and an increased risk of treatment-related toxicity and death compared to patients with lymphoid malignancies without a PID, curative therapies including allogeneic stem cell transplantation (allo-SCT) have been repeatedly reported. 5,6,10,11,15,16,22 Systematic data on the spectrum of common and rare pre-existing conditions associated with NHL in children and adolescents are scarce with respect to the type of the pre-existing conditions and the clinical characteristics and outcome of the associated NHL subtypes.…”

“…65% were male) for which there is still no explanation, and further studies are warranted to reveal the biological background of why the male sex is more often affected. 17 The largest subgroup of patients comprised well-known cancer predispositions (n=124) with DNA repair defects such as AT (n=32), NBS (n=26), and CMMRD (n=21), accounting for 65% of all patients in this subcategory. Within these 3 predominant groups, we identified variations in the NHL histological subtypes.…”