Year: 2025
Type: article
Study design: Case Report
Abstract: Prevalence of SOPH syndrome in the Republic of Sakha (Yakutia) is slightly more than 18 patients per 100,000 Yakut population. Frequency of heterozygous state for the causal mutation is 1,300 per 100,000 healthy Yakuts. As of 2009, the prevalence of SOPH syndrome in the Republic of Sakha (Yakutia) for entire population was 4.53 per 100,000, and among Yakuts, 9.95 per 100,000. This article concerns two clinical cases of SOPH syndrome in a single family (brother and sister) observed for 6 years. This clinical example is of interest to pediatricians and family doctors practicing in the Republic of Sakha (Yakutia). We used outpatient cards of municipal polyclinics for 112,000 children at their residence place, observation cards for children at the Consultative Polyclinic No.1 at the National Center of Medicine. The phenotype of both children is similar. When looking for dysplastic features, we revealed brachycephalic skull, symmetrical face, hypomimia, straight nose with protruding glabella, slight exophthalm, hypoplastic cheekbones, long filter, thin lips, uneven dentition. The skin was dark and dry. Micromelia was also documented, along with short chest and enlarged belly. The limbs were symmetrically shortened. Sex features were by male type. Stools and diuretic functions were normal. Both children underwent radiography of their hands. The delayed bone growth was revealed in both children. Both children underwent KREC and TREC studies and genetic testing. Both children were homozygous for 5741GA mutation in NBAS gene. Immunograms of both children showed a sharp decrease in IgA, IgM and IgG levels. Both children were administered regular replacement therapy with subcutaneous injections of normal human immunoglobulin. Cutaquig preparation has been also prescribed at a monthly dose of 0.5-0.6 g/kg, according to the protocol (4 g every 10 days, at two subcutaneous injection points). Currently, the children are receiving substitution therapy at their place of residence. These cases are of interest to practitioners and scientists, due to similar gene mutation in brother and sister. One should evaluate clinical course in all cases of SOPH syndrome in order to develop appropriate clinical recommendations. Establishment of the SOPH-syndrome registry in Republic of Sakha (Yakutia) will help in providing medical drugs and medical care to children with this type of primary immunodeficiency.
Source: Russian Journal of Immunology
Authors: Olga N. Ivanova, Irina S. Ivanova
Institution: North-Eastern Federal University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4414584429