Mutation in the Janus kinase 3 gene in the presence of severe combined immune deficiency

Background. In a complex demographic situation, it is extremely important to investigate the causes of infant and child deaths not only in medical terms, but also from a social point of view. The most difficult task is to look for genetic mutations as a cause of the birth of sick children. Taking into account the fact that a large number of variants of genetic mutations have been currently described, some of which have not yet proven to be of clinical value, the description of each clinical case is of scientific and practical importance. Case report. The paper describes the clinical case of a female patient with Janus kinase 3 (Jak3) gene mutation (nucleotide substitution of c.1208G>A in the heterozygous state). The mutation was detected by genetic testing after the death of two babies whose ages were 1 year 3 months and 4 months. Conclusion. The described clinical case contributes to the study of the clinical significance of Jak3 gene mutation. The presence of this mutation in the parents results in severe combined immune deficiency due to Jak3 deficiency in their offspring. The clinical significance of this mutation remains the subject of further investigation.

Janus kinase (Jak3), Jak3 gene mutation, severe combined immune deficiency, infant mortality