Emberger syndrome: isolated IgA rheumatoid factor and anti-CCP antibody positivity as a clue to the diagnosis of a rare genetic disorder

Czech version

Authors: A. Simanová ^1,2; P. Horák ^1,2; M. Čerňan ^3,4; R. Šišperová ^5,6; J. Videman ^1,2; I. Skoumalová ^3,4
Authors‘ workplace: III. interní klinika – nefrologická, revmatologická a endokrinologická, Fakultní nemocnice Olomouc, Olomouc ¹; III. interní klinika – nefrologická, revmatologická a endokrinologická, Lékařská fakulta, Univerzita Palackého v Olomouci, Olomouc ²; Hemato-onkologické klinika, Fakultní nemocnice Olomouc, Olomouc ³; Hemato-onkologické klinika, Lékařská fakulta, Univerzita Palackého v Olomouci, Olomouc ⁴; Ústav lékařské genetiky, Fakultní nemocnice Olomouc, Olomouc ⁵; Ústav lékařské genetiky, Univerzita Palackého v Olomouci, Olomouc ⁶
Published in: Čes. Revmatol., 34, 2026, No. 1, p. 5-9.
Category: Case Report

Overview

Emberger syndrome is a rare disorder associated with heterozygous pathogenic variants of the GATA2 gene, characterized by a combination of primary lymphedema, cytopenias, and an increased risk of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). We describe the case of a 24-year-old female patient referred to our clinic for further evaluation of arthralgia and a specific immunological profile-positive ANA, isolated positivity limited to the IgA class of ANA, RF, anti-CCP antibodies and hyperimmunoglobulinemia A. Clinically, extensive verrucous lesions on the palms and soles and hearing impairment were predominant, while joint examination revealed no signs of arthritis. In addition to immunological abnormalities, laboratory tests revealed anemia, leukopenia, and monocytopenia. Given the suspicion of a genetically determined disorder, molecular genetic testing was performed and verified a heterozygous sequence variant NM_032638.5:c.1084C>T, p.Arg362* in the GATA2 gene, leading to the clinical manifestations of Emberger syndrome. Early diagnosis of this rare syndrome is crucial, as it enables appropriate monitoring and early recognition of potential hematological complications-myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The only curative treatment for heamatologic complications of the syndrome is allogeneic hematopoietic stem cell transplantation.

Keywords:

lymphedema – hearing impairment – cytopenia – Emberger syndrome – GATA2 – rare disease

Sources

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Labels

Dermatology & STDs Paediatric rheumatology Rheumatology

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Article was published in

Czech Rheumatology

2026 Issue 1