A novel mutation in SLC39A7 identified in a patient with autosomal recessive agammaglobulinemia: The impact of the J Project

Pediatr Allergy Immunol. 2022 Jun;33(6):e13805. doi: 10.1111/pai.13805.

Melinda Erdős^{1

2}, Kristina Mironska³, Lidia Kareva³, Katarina Stavric³, Arijeta Hasani³, Árpád Lányi⁴, Judit Kállai⁴, László Maródi^{1

2}

¹ Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.
² St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
³ Department of Immunology, University Clinic for Children's Disease, Skopje, Republic of North Macedonia.
⁴ Department of Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

No abstract available

Keywords: B cell deficiency; J Project; SLC39A7 mutation; agammaglobulinemia; zinc transporter proteins.

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