Autoimmune lymphoproliferative syndrome identified through reverse phenotyping

Svetlana Kocheva; Marija Gjorgijevska; Marija Vujovic; Kata Martinova; Zorica Antevska-Trajkova; Aleksandra Jovanovska; Katarina Stavrikj; Dijana Plaseska-Karanfilska

doi:10.5114/ceji.2022.118079

eISSN: 1644-4124
ISSN: 1426-3912

Central European Journal of Immunology

Current issue Archive Manuscripts accepted About the journal Special Issues Editorial board Abstracting and indexing Subscription Contact Instructions for authors Publication charge Ethical standards and procedures

Editorial System

Submit your Manuscript

2/2022
vol. 47

Send email

Copy url:

abstract:

Case report

Autoimmune lymphoproliferative syndrome identified through reverse phenotyping

Svetlana Kocheva

¹

,

Marija Gjorgijevska

²

,

Marija Vujovic

²

,

Kata Martinova

¹

,

Zorica Antevska-Trajkova

¹

,

Aleksandra Jovanovska

¹

,

Katarina Stavrikj

¹

,

Dijana Plaseska-Karanfilska

²

Faculty of Medicine, University Clinic for Children’s Diseases, Ss. Cyril and Methodius University in Skopje, North Macedonia
Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, MASA, Skopje, North Macedonia

Cent Eur J Immunol 2022; 47 (2): 179-182

DOI: https://doi.org/10.5114/ceji.2022.118079

Online publish date: 2022/07/15

View full text Get citation

PlumX metrics:

Autoimmune lymphoproliferative syndrome (ALPS) is a chronic non-malignant lymphoproliferative disorder caused by mutations in the genes involved in programmed cell death. It is inherited as an autosomal dominant pattern with variable penetrance. In this paper we present the first report of a Macedonian family with ALPS, caused by a novel heterozygous variant in the FAS gene. The next generation sequencing (NGS) analysis in a patient with splenomegaly, suspected for hereditary spherocytosis, showed presence of the FAS c.913dupA, p.Thr305AsnfsTer16 variant. The same variant was present in the patient’s mother, but not in the mother’s parents (proband’s grandparents). Thus, the pathogenic FAS variant has arisen as a de novo event in the proband’s mother. Later, analysis of the newborn affected sister showed presence of the same FAS variant. Additional clinical and laboratory investigations in the proband and her sister confirmed the presence of specific biomarkers for ALPS. A first-line NGS analysis allows identification of the genetic defect and initiation of appropriate clinical examinations to promptly establish the clinical diagnosis in patients with rare diseases. Reverse phenotyping in our case provided a prompt and accurate diagnosis and early initiation of specific therapy.

keywords:

Autoimmune lymphoproliferative syndrome identified through reverse phenotyping

Svetlana Kocheva 1 , Marija Gjorgijevska 2 , Marija Vujovic 2 , Kata Martinova 1 , Zorica Antevska-Trajkova 1 , Aleksandra Jovanovska 1 , Katarina Stavrikj 1 , Dijana Plaseska-Karanfilska 2

ALPS, reverse phenotyping, new pathogenic variant

Svetlana Kocheva

¹

,

Marija Gjorgijevska

²

,

Marija Vujovic

²

,

Kata Martinova

¹

,

Zorica Antevska-Trajkova

¹

,

Aleksandra Jovanovska

¹

,

Katarina Stavrikj

¹

,

Dijana Plaseska-Karanfilska

²