Raz Somech (Israel)
Sheba Medical Center
Pediatrics, Immunology
Director, Pediatric Department and Immunology service, Director, Jeffrey Modell Foundation Center, Director, The Israel Society of Primary Immunodeficiency "Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Full Professor at Pediatrics, "Sackler" School of Medicine, Tel Aviv University, Israel. Main clinical and research interests: 1. Primary immunodeficiencies- finding and characterizing novel diseases. 2. Newborn screening for severe combined immunodeficiency (SCID). 3. Investigating fetal immunity in health and diseases. 4. Next generation sequencing to illustrate and understand for T and B cell receptor repertoires. 5. Gene editing platforms to correct immunodeficiencies. 6. Consistent, long-standing, solid collaboration with Palestinian Doctors to diagnose and treat patients with PID.

Presenter of 1 Presentation

 Conference Calendar

LESSONS LEARNED FROM FIVE YEARS OF NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID) IN ISRAEL

Session Type
Parallel Sessions
Session Name
0570 - Parallel Session 06: IEI Newborn Screening (ID 41)
Date
Thu, 13.10.2022
Session Time
14:00 - 15:30
Room
Session Hall 01
Lecture Time
15:12 - 15:22
Presenter

Abstract

Background and Aims

Background: Implementation of newborn screening (NBS) programs for severe combined immunodeficiency (SCID) have advanced diagnosis and management of affected infants and undoubtedly improved their outcomes. Reporting long-term follow-up of such programs is of great importance.

Objective: Here we report a five-year summary of the NBS program for SCID in Israel.

Methods

Methods: Immunological and genetic assessments, clinical analyses and outcome data from all infants screened positive were evaluated and summarized.

Results

Results: A total of 937,953 Guthrie cards were screened for SCID. A second Guthrie card was requested on 1169 occasions (0.12%) that resulted in 142 referrals (0.015%) for further validation tests. Flow cytometry immune-phenotyping, TREC measurement in peripheral blood, and expression of TCRVb repertoire for validation of positive cases revealed specificity and sensitivity of 93.7% and 75.9%, respectively, in detecting true cases of SCID. Altogether, 32 SCID and 110 non-SCID newborns were diagnosed, making the incidence of SCID in Israel as high as 1: 29,000 births. The most common genetic defects in this group were associated with mutations in DCLRE1C and IL7R genes. No infant with SCID was missed during the study time. Twenty-two SCID patients underwent hematopoietic stem cell transplantation (HSCT) that resulted in a 91% survival rate.

Conclusions

Conclusions: NBS for SCID should be ultimately applied globally, specifically to areas with high rates of consanguineous marriages. Accumulating data from follow-up studies on NBS for SCID will enable improving diagnosis and treatment and will enrich our understanding of immune development in health and disease.

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