Welcome to the ESID 2022 Meeting Interactive Programme

Background and Aims

Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative modality for IEI. The number of HSCTs has been rising worldwide. The availability of HSCT for IEI patients in Russia is poorly studied.

Methods

The data were collected from four Russian centers performing HSCT in pediatric IEI patients and Russian Primary Immunodeficiency Registry.

Results

From 1997 to the end of 2020, 511 allogeneic HSCTs were performed in 452 patients with IEI; 88 (19%) had severe combined immunodeficiency (SCID), 157 (35%) other combined immunodeficiencies, 94 (21%) phagocyte disorders, 78 (17%) diseases of immune dysregulation, and 35 (8%) other IEI. The median age at IEI diagnosis was 1 year (range 0-18). The median age at HSCT was 2.3 years (range 0.1-19.6 years). The median number of HSCTs per year was 3 in 1997-2009, 15 in 2010-2015 and 60 in 2015-2020. For the first HSCT a matched unrelated donor was used in 216 patients, a matched related donor in 74 and a mismatched related donor in 161 (135 with TCRαβ/CD19 depletion, 16 CD34 selection, 7 post-HSCT cyclophosphamide and 2 campath-in-bag depletion); in second HSCTs in 12 of 56 patients the same donor was used.

The median FU in survivors was 4.5 years (range 1-25). Overall survival was: in SCID patients 57%, in non-SCID patients 78% (p<0.001); in those who had severe morbidity at HSCT 65% and those with no morbidity 86% (p<0.001).

Conclusions

The availability of HSCT for IEI has been rising in Russia. Implementation of newborn screening for SCID might dramatically improve survival in this group of patients.

Background and Aims

X-linked lymphoproliferative disease type 1 (XLP1) patients have a high risk of monoclonal lymphoproliferative diseases (LPD). A precise and actualized description of LPDs in XLP1 patients is lacking.

Methods

We conducted a retrospective analysis of genetically identified XLP1 patients from the CEREDIH registry having presented an LPD before allogenic stem cell transplantation.

Results

Eighteen out of 43 XLP1 patients developed at least one LPD and 6 presented two LPDs. Median age at diagnosis of the first malignancy was 12 years old [IQR 7-20]. The LPD was the first manifestation of the XLP1 syndrome in 16/18 patients. Out of 25 LPDs, 21 were B-cell neoplasms (9 diffuse large B-cell lymphomas, 7 Burkitt,1 Hodgkin, 1 lymphoblastic lymphoma, 3 unspecified), one was an NK/T-cell lymphoma and two were unspecified. Five out of 11 LPDs were not EBV-associated. Thirteen out of 14 LPDs had extranodal localizations, the most frequent being the digestive tract (6/14) and the central nervous system (4/14). Eleven out of 13 patients received high dose immuno-chemotherapy, one received only Rituximab and the last one received Brentuximab alone. All patients who received immuno-chemotherapy except one reached complete remission. Five patients received an allogenic transplantation. With a median follow-up of 6.9 years, 5-year overall survival after LPD was 77%.

Conclusions

LPDs occur at a high rate in XLP1 patients, most often present as aggressive B-cell lymphomas with a high incidence of extranodal disease and are not always associated to EBV. All medical records and centralized pathology will be reviewed.

Background and Aims

The INTREPID project aims to evaluate the utility of specific Human Phenotype Ontology (HPO) terms for distinguishing known primary immunodeficiency disorders (PID) and enabling genetic diagnosis from whole genome sequence data. To improve and standardize HPO data collection, we aimed to develop a tool for PID phenotype capture.

Methods

We developed a web-based Phenotype Capture Tool (PCT), which allows the user to easily browse and input HPO terms for individual patients. We also developed a training package focused on selection of HPO terms for PID. To provide quality control for data entry, access to the tool is only given to clinicians and researchers after a training session with practice cases used to standardise selection of HPO terms.

Results

We have now used the PCT tool to enter HPO phenotype for over 300 patients and have trained 8 users. The number and specificity of HPO terms used to create a phenotype profile increased after training. The range of terms used also expanded, covering more categories of abnormalities such as abnormal infection history or vaccine reactions, lymphoproliferation, autoimmune/autoinflammation, and abnormal test results.

Conclusions

To achieve better output of the algorithms of statistic association, the set of HPO terms chosen to represent a phenotypic profile must be as specific as possible and represent the most relevant observations. The use of the PCT after a training session improves the quality and standardisation of data input. We intend to make our PCT and training course publicly available as a resource for the PID community.