In the last decades, the spectrum of primary immunodeficiency diseases (PIDs) has greatly widened, including disorders that can variably impair different immune functions. Although several case series have been published for each disorders, no data is available on how these changes have reflected in the clinical practice of pediatric departments. Aim of the study: Based on the analysis of registry data, we evaluated the distribution of diagnoses among different PID categories, the clinical features and diagnostic investigations at disease onset in two pediatric departments, namely in Slovenia and in Italy. Results: 136 patients have been diagnosed at the two centers, with a widespread distribution into different disease categories. Considering the 109 patients who were still alive at the last follow-up, prevalence of pediatric-onset-PID in our area was roughly estimated to be around 31 per million inhabitants. Diagnosis was genetically confirmed in 79 cases (58.1%), with 29 different genes found mutated. The most common presenting symptoms were: recurrent infections (52.2%), inflammatory manifestations (36.7%), specific syndromic features (30.8%), unusual infections (1.6%) and failure to thrive/growth retardation (22.8%). Treatments at follow-up include antimicrobials (20), hematopoietic stem cell transplantation (17), immunoglobulin replacement therapy (16), and immunosuppressants (9). Conclusions: A huge number of different PIDs are encountered in pediatric departments, often presenting with complex clinical pictures. Our results suggest that the identification of PID may be improved by a multidisciplinary approach, attaching importance not only to infections but also to other symptoms arising from a defective immune function.

Background Familial Mediterranean Fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis. It is common in eastern Mediterranean population. There are only few FMF patients in Slovenia and Macedonia and the mutation carrier rate is not known. So far, over 80 disease associated mutations have been identified in MEFV gene; the most common are M694V, V726A, M680I, E148Q and M694I.The distribution pattern of MEFV mutation along the Mediterranean Sea is not uniform; eastern populations have the highest number of carriers (20-39%), whereas the number of carriers in western Mediterranean populations is considerably lower.

Background QI are retrospectively measurable elements of practice performance for which there is evidence or consensus that can be used to assess the quality of care provided. Aim To develop a set of consensus-derived QI for pSLE to serve as international benchmarks for the quality of patient care. Methods Based on the medical literature a Delphi survey was created and distributed to the physician membership of PRES, PANLAR, CARRA and the ACR via e-mail. Consensus was considered 80% or higher. Results There was consensus (97%) among the 297 respondents that simply applying QI developed by the ACR and EULAR for adults with SLE (adult QI) was insufficient and that distinct QI for pSLE were needed. Respondents concurred that 5 of the 20 ACR and 6 of the 24 EULAR adult QI are also suitable for pSLE. An additional 14 ACR and 13 EULAR adult QI might be useful for pSLE after modifications. There was no consensus whether to consider “Pregnancy” (45%) and “Reproductive Health” (65%) as domains in the set of pSLE QI. Conclusion There is great demand among pediatric rheumatologists to develop QI for pSLE. Initial agreement has been reached about the types and domains of QI for pSLE, but additional discussion and consensus formation under consideration of the medical evidence is needed to finalize a set of QI for pSLE that can be used to define standard of care treatment for children and adolescents with pSLE.

Objective: Anti-β2glycoprotein I antibodies (a-β2GPI) are a laboratory criterion for the antiphospholipid syndrome (APS) and were demonstrated to be involved in the pathogenesis of APS. However, they can also be detected in asymptomatic subjects. It has been suggested that a-β2GPI against Domain1 (D1) associate with thrombosis, while those recognizing Domain4/5 (D4/5) have been identified in non-thrombotic conditions. We evaluate the specificity of a- β2GPI in different clinical situations. Methods: We studied 39 one-year-old healthy children born to mothers with systemic autoimmune diseases (SAD) (15 (38.4%) were born to mothers who were a-β2GPI positive), 33 children with atopic dermatitis (AD) and 55 patients with APS (50 adults and 5 paediatrics). All subjects were IgG a-β2GPI positive. IgG a-β2GPI were performed by homemade ELISA, while IgG a-β2GPI D1 and D4/5 were tested on research ELISAs containing recombinant β2GPI domains antigens. Results: One-year-old children and AD children displayed preferential reactivity for D4/5; patients with APS recognized preferentially D1. We also found a good correlation between a-β2GPI and D4/5 in one-year-old (r=0.853) and AD children (r=0.879) and between a-β2GPI and D1 in the APS group (r=0.575). No thrombotic events were recorded in both groups of children. Conclusions: A-β2GPI found in non-thrombotic conditions (healthy children born to mothers with SAD and AD children) mostly recognize D4/5, in contrast to the prevalent specificity for D1 in the APS group. The different specificity could at least partially explain the “innocent” profile of a-β2GPI in children.