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Immunodeficiency Diseases

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Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.

Vasil Toskov¹, Petra Kaiser-Labusch², Min Ae Lee-Kirsch³

¹Clinic of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Journal of Clinical Immunology

|May 21, 2024

Summary

PRIM1 gene mutations cause primordial dwarfism with immune deficiency. Disease severity and B-cell lymphopenia vary, with potential links to type I interferon activation.

Keywords:

B cell deficiency PRIM1 agammaglobulinemia immunodeficiency interferonopathy primordial dwarfism type I interferon

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Area of Science:

Genetics
Immunology
Molecular Biology

Background:

Mutations in DNA polymerase genes can impair immune function and cause syndromic features.
Biallelic PRIM1 mutations are linked to primordial dwarfism, hypogammaglobulinemia, and early lethality from infections and liver cirrhosis.

Purpose of the Study:

To investigate the immunological consequences of PRIM1 deficiency in three novel patients.
To explore the relationship between clinical phenotype and immunological abnormalities in PRIM1 deficiency.

Main Methods:

Clinical assessment of three patients with PRIM1 deficiency.
Genetic analysis to identify PRIM1 variants.
Immunological profiling, including lymphocyte subset analysis and interferon signature assessment.

Main Results:

All three patients presented with dysmorphic features and bilateral cryptorchidism.
One patient with a novel splice variant (c.103+2T>G) had a milder phenotype but pronounced B cell lymphopenia.
Two patients with a known variant (c.638+36C>G) died in infancy.
All patients exhibited variable Type I interferon signatures, suggesting a role in pathogenesis.

Conclusions:

B cell deficiency in PRIM1 deficiency is highly variable and not predicted by syndromic features.
Pathological type I interferon activation may contribute to the pathogenesis of PRIM1 deficiency.
Further research is needed to elucidate the role of type I interferon in this condition.