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PP-054 A case of primary immunodeficiency with immune dysregulation: CD25 deficiency
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  1. Elena Serebryakova1,
  2. Tat`yana Shilova1,
  3. Artem Kozhevnikov2,
  4. E`lina Kil`muxametova2
  1. 1State Budgetary Educational Institution of Higher Education South Ural State Medical University of the Ministry of Health of Russia
  2. 2Chelyabinsk Regional Children’s Clinical Hospital

Abstract

Aim We present a case of CD25 deficiency in a boy from an Uzbek family, confirmed by an identified mutation in the IL-2RA gene.

Material and Method DNA research using paired-end sequencing technology.

Results CD25 deficiency is a rare primary immunodeficiency with immune dysregulation, according to the International Union of Immunological Societies (IUIS) classification updated in 2022, it is classified as class 4, defects of regulatory T cells. In our patient the disease manifested itself in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, fungal infections, autoimmune manifestations, malabsorption syndrome, malnutrition, and skin lesions. The patient received massive antibacterial therapy, antifungal therapy, intravenous immunoglobulin, and parenteral nutrition; despite treatment, the patient continued to have manifestations of a systemic inflammatory response and dysfunction of the gastrointestinal tract. No pronounced changes in the immunogram were detected. When studying DNA using clinical sequencing at the age of 5 months, a mutation c.473_485delCTCTACACAGAGG was identified in a homozygous variant in the region chr10:6021575ACCTCTGTGT AGAG>A, in the IL2RA gene. After clarifying the diagnosis, the patient was prescribed sirolimus with a positive effect. The first hematopoietic stem cell transplant was performed at 10 months, and the patient is currently preparing for a second hematopoietic stem cell transplant.

Conclusions CD25 deficiency is a rare primary immunodeficiency disorder with immune dysregulation, should be suspected in patients based on characteristic clinical manifestations. The most common and early symptom of CD25 deficiency is severe, chronic diarrhea. Skin lesions (eczema) and susceptibility to cytomegalovirus infection are also early symptoms of CD25 deficiency. Early diagnosis of CD25 deficiency can improve the prognosis and quality of life of patients. DNA testing using clinical sequencing can confirm the diagnosis of CD25 deficiency. Presentation and integration of data on CD25 deficiency is necessary to better understand the manifestations and natural history of this pathology.

  • CD25 deficiency
  • primary immunodeficiency with immune dysregulation
  • diagnosis
  • clinical manifestations

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