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Cystinuria is renal reabsorption defect of dibasic amino acids, inherited autosomal recessive. Because cysteine solubility is lower than other amino acids cysteine stones are formed in kidneys. In the literature, no association was found between Omenn Syndrome and cysteine stones hence, our case is very interesting.

5 months old girl applied to the Pediatric Immunology Department of Erciyes University Children Hospital with skin eruption. There was no family history for immune deficiency and no consanguineous marriage between mother and father. Patient had one sibling who is healthy. Patient was not performed with BCG or other live vaccines. In her physical examination, we observed exfoliative erythroderma and hepatomegaly. In laboratory examination, leukocyte count 6540/mm³, absolute neutrophil count 2270/mm³ , absolute lymphocyte count 1560/mm³ , absolute eosinophil count 2220/mm³, serum IgG level 171mg/dl, IgA level 5,81mg/dl, IgM level 24,5mg/dl, IgE level 1270 mg/dl were found. T lymphocyte count 1092/mm³, B lymphocyte count 6/mm³, NK count 332/mm³ were found respectively. Blood sample of patient was sent to Erasmus for genetic analysis.

The patient had no full-match family donor. Hence, haploidentical bone marrow transplantation from her father was planned. In preparation for bone marrow transplantation, bilateral kidney stones were showed in abdominal CT. Cystinuria was detected in urine and thought to be bilateral cysteine Stone. Percutaneous nephrolithotomy operation was performed, then the patient was given scholl solution. Stone analysis revealed to be cysteine stone.

Association with two different diseases inherited autosomal recessive is very interesting. Challenging incident that can be caused by a reason or it can be only coincidence? In Omenn Syndrome is known to be sequencing alteration of cysteine and tyrosine amino acids. Perhaps, cysteine stones took form as a result of this alteration.