Genetic verification of an autoinflammatory syndrome caused by a heterozygous mutation in the SOCS1 gene masquerading as hemoblastosis. Clinical case
DOI:
https://doi.org/10.15574/SP.2023.134.133Keywords:
autoinflammatory/autoimmune syndrome, heterozygous mutation in the SOCS1 gene, genome sequencing, cytopenia, lymphoproliferative syndrome, immunodeficiency, childrenAbstract
Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD), caused by a heterozygous mutation in the SOCS1 gene on chromosome 16p13, is characterized by the appearance of various autoimmune signs usually in the first decades of life, although later onset has been reported. Typical features of AISIMD include autoimmune cytopenia, thrombocytopenia, hemolytic anemia and lymphadenopathy, possible alterations in cellular immunity, and hypogammaglobulinemia.
Purpose - to present a combination of clinical, imaging and laboratory signs in a nine-year-old patient with autoinflammatory syndrome and mild immunodeficiency caused by a heterozygous mutation in the SOCS1 gene; to emphasise the importance of genetic tests for definitive diagnosis.
Clinical case. Features of diagnosis of autoinflammatory syndrome caused by heterozygous mutation in the SOCS1 gene in a 9-year-old boy are described. The disease was manifested in the laboratory by leukopenia with neutropenia, monocytosis, thrombocytopenia, an increase in markers of inflammation - C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR), impaired cellular immunity (inverse CD4/CD8 ratio, reduced number of NK cells (CD3-CD16+CD56+), decrease in CD19, increase in the per cent of double-negative T-lymphocytes (Neg. In T- Double LF (CD3+CD4-CD8-); clinical: hyperthermia, recurrent aphthous stomatitis, irritable bowel syndrome, progressive generalized lymphoproliferative syndrome. Differential diagnosis with hemoblastosis was carried out, which was denied. Subsequently the presence of an ulcer in the ileum and mucinous metaplasia in the covering epithelium gave grounds to diagnose an inflammatory bowel disease: Crohn's disease with damage to the terminal part of the small intestine. Verification of the final diagnosis of an autoinflammatory syndrome caused by a heterozygous mutation in the SOCS1 gene took place using genome sequencing.
The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies.
No conflict of interests was declared by the authors.
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