case_images: PMC9712176_01
case_images: Gene sequencing results of the index patient of Janus kinase 3 (JAK3) deficiency and her parents. Sequencing detected two missense mutations both located in the Janus homology 7 (JH7) domain of the JAK3 gene, as maternal mutation c.331G>A and paternal mutation c.301A>G.
case_images: fimmu-13-1055607-g001.jpg
case_images: PMC9712176_01_fimmu-13-1055607-g001.jpg
case_images: f1
case_images: Subsequent gene sequencing identified two heterozygous missense mutations in the Janus homology 7 (JH7) domain of the JAK3 gene of the patient, each inherited from her parents ( Figure 1 ).