Gabriela Ivankovich-Escoto, Costa Rica
Caja Costarricense Seguro Social Pediatric ImmunologyPresenter of 1 Presentation
MALIGNANCY AND PRIMARY IMMUNODEFICIENCY - FROM THE COSTA RICAN REGISTRY
Abstract
Background and Aims
Primary disorders (PID) are inborn errors of the immune system. (1,2). Developed countries have registries to estimate the prevalence, incidence, and patterns of PIDs. Costa Rica is a country with a population of 5 million where pediatric PIDs are followed in one center that is part of the Latin American Society for immunodeficiencies (LASID)(1,3). Among the latin-american countries Costa Rica represents the 6% of all reported cases of PIDs (1).
The epidemiology of major PIDs diagnosis and the frequency of malignancy at the National Children´s Hospital (HNN), San José Costa Rica is described in period of ten years.
Methods
We performed a preliminary retrospective analysis of the patients that attended our clinic in the last 10 years and describe the malignancy presentation.
Results
Table 1: Number of cases of the most common PIDs and number of cases with malignancy
PID | No. Cases | Malignancy |
IPEX | 1 | 0 |
PI3KCD | 1 | 0 |
DOCK8 | 2 | 1 |
PIK3R1 | 2 | 1 |
IKARUS | 2 | 0 |
C1-INH | 2 | 0 |
FHL-4 | 3 | 1 |
SIgAD | 4 | 0 |
WAS | 4 | 0 |
CD40LD | 4 | 0 |
CGD | 12 | 0 |
XLA | 17 | 0 |
SCID | 19 | 0 |
AT | 97 | 8 |
TOTAL | 160 | 11 |
AT is the most common PID in Costa Rica and it represents 60% of the patients registered so far. Malignancy presented predominately in AT patients as expected. It was distributed as 1 gastric adenocarcinoma, 2 nasopharyngeal NHL, 1 T-cell lymphoma, 1 ovarian cancer, 1 hepatoblastoma. 2 AT patients had two malignancies (non Hodgkin and Hodgkin lymphoma).
Conclusions
Costa Rica has a high prevalence of AT.