IMMUNOLOGICAL AND HEMATOLOGICAL ABNORMALITIES IN PATIENTS WITH GENETIC SYNDROMES AND METABOLIC DISEASES – AN IPINET SURVEY
- Francesco Saettini, Italy
Abstract
Background and Aims
Several case reports have described immune-hematological abnormalities in genetic syndromes and metabolic diseases that are currently not included in IUIS and ESID classifications. In these rare conditions, the incidence of such manifestations is unknown. Therefore, we performed a retrospective survey study.
Methods
All members of the Italian Primary Immunodeficiency NETwork (IPINet) were invited to report patients with defined chromosomal aberrations or genetic lesions (excluding genetic syndromes or metabolic diseases included in the IUIS or ESID Classifications).
Results
Eighteen patients from 3 centres (10 males, 8 females; median age of presentation 2.5 years [range 0-23 years]) have been enrolled so far (Table 1). We observed clinical manifestations and/or immune abnormalities in eight patients with genetic syndromes and 10 patients with metabolic diseases (shown in Table 1). The most important clinical manifestation prompting the immunological evaluation was recurrent infections (10/18, 56%). Immunoglobulin isotype and B cell deficiencies were the most common immunological abnormalities reported (11/18, 61%; Table 2), requiring IVIG replacement therapy in 4 patients.
Conclusions
Our survey shows that many genetically inherited syndromes and metabolic diseases that are not included in IUIS and ESID classifications are associated with immune-hematological abnormalities. Although airway infections can also be secondary to other causes (e.g. aspiration or structural abnormalities), a significant number of patients also have an antibody deficiency that may benefit from specific treatments (e.g. immunoglobulin replacement). Therefore, our study suggests that immunological investigations should be performed if patients with genetic syndromes and metabolic diseases present with recurrent infections.