case_images: PMC11254792_01
case_images: (A) Distribution map of Western and Eastern Slavic families with the RAG1 p.K86VfsX33 variant in Slavic countries; the Vistula river basin is overlaid on the map of Poland. The blue line is the Vistula River basin and its largest tributaries (Bug, Narev, San, Wieprz, Pilica, and Muchowiec), the geographic area coincides with the region of the largest concentration of families where patients with p.K86VfsX33 homozygous variants were born. The birthplace of the patients was indicated by the location of the circles; homozygous p.K86VfsTer33 variant is represented by red circles; heterozygous p.K86VfsTer33 variant is half red/half gray; and other variants are gray. (B) Pedigree of the proband; the mother and father are carriers; deceased (line through). Timeline summarizing main turning point of patient's clinical history. Chest radiograph at the age of 3 months: pneumonia; liver biopsy at the age of 1 year 2 months: lymphoma with angiodestructive type of growth. (C) Liver biopsy: solid shut of lymphoma cells, some of them resemble Reed-Sternberg cells and electropherograms of Sanger sequencing of RAG1 p.K86VfsX33 variant from lymphoma tissue. (D) Bone marrow smear: dissociation of neutrophil maturation cells and electropherograms of Sanger sequencing of RAG1 p.K86VfsX33 variant in the bone marrow.
case_images: fped-12-1415020-g001.jpg
case_images: PMC11254792_01_fped-12-1415020-g001.jpg
case_images: F1
case_images: Chest radiograph showed bilateral polysegmental pneumonia (Figure 1B). Immunostaining for EBV latent membrane protein was positive (Figure 1C). Bone marrow investigation revealed dissociation of neutrophil maturation, hypochromia, and microanisocytosis of erythrocytes (Figure 1D).