Raz Somech

Tel Aviv University — Israel

Immunology and Microbiology · Life Sciences

42h-index7.9kcitations251works17.12yr avg
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Research Topics

Immunodeficiency and Autoimmune Disorders(109), Immune Cell Function and Interaction(46), Blood disorders and treatments(42), T-cell and B-cell Immunology(27), Chronic Lymphocytic Leukemia Research(16)

Publications248 total

Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome
Human Molecular Genetics·2025Open Access
Mutations in <i>VPS18</i> lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis
2025Open Access
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies
Journal of Clinical Immunology·2025Open Access
CARMIL2 deficiency disrupts activation-induced metabolic reprogramming in T cells and is partially rescued by glutamine supplementation
Journal of Allergy and Clinical Immunology·2025· 3 citedOpen Access
Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2
Frontiers in Pediatrics·2025Open Access
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Journal of Human Immunity·2025· 76 citedOpen Access
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
Journal of Human Immunity·2025· 157 citedOpen Access
Outcome of hematopoietic stem cell transplantation for severe combined immunodeficiency and impact of newborn screening on overall survival: A single referral center study
Journal of Allergy and Clinical Immunology·2025· 1 cited
Developing and validating a Global Trigger Tool for assessing frequency, level of harm, and preventability of adverse drug events in pediatric inpatients units
International Journal for Quality in Health Care·2025
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy
Immunogenetics·2024· 3 citedOpen Access
Investigating Concomitant <i>RAG-2</i> and <i>LRBA</i> Mutations in SCID and Autoimmunity
Clinical & Experimental Immunology·2024· 2 cited
Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort
Blood·2024· 7 cited
Perspective - Was it All for Nothing?
Journal of Clinical Immunology·2024
Helper T cell immunity in humans with inherited CD4 deficiency
The Journal of Experimental Medicine·2024· 12 citedOpen Access
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
The American Journal of Human Genetics·2024· 20 citedOpen Access
[CHARACTERIZATION OF THE ADAPTIVE IMMUNE REPERTOIRE USING NEXT GENERATION SEQUENCING: RECENT DISCOVERIES IN THE FIELD OF PRIMARY IMMUNODEFICIENCY, AND THE UPCOMING FUTURE].
PubMed·2024
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
Journal of Clinical Immunology·2023· 7 citedOpen Access
Biallelic hypomorphic variants in <i>CAD</i> cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2
British Journal of Haematology·2023· 1 citedOpen Access
CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications
Nature Communications·2023· 20 citedOpen Access
Newborn screening for severe combined immunodeficiency and inborn errors of immunity
Current Opinion in Pediatrics·2023· 12 cited
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Frequent Co-authors

Anthony Simon(19), Atar Lev(17), Ninette Amariglio(12), Gideon Rechavi(12), Christoph Klein(11), Yu Nee Lee(8), Isabelle Meyts(7), Steven M. Holland(6), Troy R. Torgerson(6), Stuart G. Tangye(5), Waleed Al–Herz(5), José Luis Franco(5), Tomohiro Morio(5), Capucine Pïcard(5), Anne Puel(5), Mikko Seppänen(5), Helen C. Su(5), Luigi D. Notarangelo(5), Nufar Marcus(5), Amos Etzioni(5)