Background: There is an increased demand for hematopoietic stem cell transplant (HSCT) to treat various diseases including combined immunodeficiencies (CID), with limited worldwide availability. Variables affecting the decision regarding CID patients' prioritization for HSCT are not known. We aimed to determine general, clinical, and immunologic factors associated with the higher risk of early death (≤6 months after diagnosis) in untransplanted CID patients.Methods: Data collection was done retrospectively from five centers and included general patients' information, and clinical and laboratory variables. Inclusion criteria were untransplanted patients who are either dead or alive with a follow-up period ≥6 months after diagnosis.Combined immunodeficiencies affecting cellular and humoral immunity (CID) are monogenic heterogeneous group of diseases. Affected patients are at risk of developing a wide range of manifestations mainly infections, immunodysregulation, and lymphoproliferation. 1,2 Based on newborn screening (NBS) results in 11 of the United States of America (USA), typical and atypical SCID were found to affect one in 58,000 newborns, 3 but it is higher in certain populations due to the high rate of consanguineous marriages or founder effect. [4][5][6] Combined immunodeficiencies can only be cured by hematopoietic stem cell transplant (HSCT) or gene therapies, and several variables were found to influence the outcome. [7][8][9][10][11] However, the decision on when to perform the HSCT and which patients should be prioritized is difficult on many occasions.The objective of this retrospective, multicenter study was to determine general, clinical, and immunologic factors associated with a higher risk of early death (within 6 months after diagnosis) in untransplanted CID patients. To our knowledge, there are no published data about this topic.The rationale for conducting this study is that HSCT is not accessible for most patients worldwide. A recent study determined that populations in almost half of the Eastern Mediterranean region countries do not have access to HSCT programs. 12 In another report from Latin America, an estimate of less than 10% of required transplants was carried out. 13 Additionally, transplant rates in Southeast Asia/Western Pacific region were 10-fold lower compared with North America. 14 Hence, knowing these variables should help the decision regarding which patients should be prioritized for HSCT.
| MATERIAL S AND ME THODS
| Patients' dataA detailed data form in an Excel sheet was prepared by the first author (WA) and was sent to participating centers. General patients' information including sex, parenteral consanguinity, family history of CID, and their outcomes were recorded. Clinical data included age of onset and diagnosis, and whether the patient was diagnosed by newborn screening or not. We also collected data about the following infections: adenovirus, aspergillus, Candida, cytomegalovirus, Epstein-Barr virus, Enterovirus, herpes simplex virus, influenza virus, respiratory syn...