{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T22:30:16Z","timestamp":1762900216670,"version":"build-2065373602"},"reference-count":31,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"POIR.04.04.00-00-41DB\/17-00 ,","award":["TEAM TECH 4\/2017  for Anna W\u00f3jcicka"],"award-info":[{"award-number":["TEAM TECH 4\/2017  for Anna W\u00f3jcicka"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hemolytic uremic syndrome (HUS) is defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI). Atypical HUS (aHUS), distinguished by its etiology, is caused by uncontrolled overactivation of the alternative complement pathway. The correct diagnosis of aHUS is complex and involves various gene mutations. Severe combined immunodeficiency (SCID), characterized by severe T-cell lymphocytopenia and a lack of antigen-specific T-cell and B-cell immune responses, is of seldom occurrence. In 10\u201315% of pediatric patients, SCID is caused by adenosine deaminase (ADA) deficiency. The authors describe the case of a boy who suffered from both aHUS and ADA-deficient SCID. At the age of 9 months, the patient presented acute kidney injury with anuria and coagulopathy. The diagnosis of aHUS was established on the basis of alternative complement pathway deregulation and disease-associated gene mutations. Further examination revealed immune system failure and, at the age of 13 months, the ADA deficiency was confirmed by genetic tests and the boy was diagnosed with ADA-SCID. ADA SCID has recently been described as a possible triggering factor of aHUS development and progression. However, more research is required in this field. Nevertheless, it is crucial in clinical practice to be aware of these two co-existing life-threatening diseases.<\/jats:p>","DOI":"10.3390\/ijms22179479","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T21:59:45Z","timestamp":1630447185000},"page":"9479","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)\u2014Two Diseases That Exacerbate Each Other: Case Report"],"prefix":"10.3390","volume":"22","author":[{"given":"Anna","family":"Bogda\u0142","sequence":"first","affiliation":[{"name":"District Hospital in Zawiercie, ul. Miodowa 14, 42-400 Zawiercie, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-005X","authenticated-orcid":false,"given":"Andrzej","family":"Bade\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2071-3297","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Pac","sequence":"additional","affiliation":[{"name":"Department of Immunology, The Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"W\u00f3jcicka","sequence":"additional","affiliation":[{"name":"Warsaw Genomics, 01-682 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1711-8067","authenticated-orcid":false,"given":"Marta","family":"Bade\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Didyk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology with Dialysis Division for Children, Public Clinical Hospital No. 1 in Zabrze, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Trembecka-Dubel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology with Dialysis Division for Children, Public Clinical Hospital No. 1 in Zabrze, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nel","family":"D\u0105browska-Leonik","sequence":"additional","affiliation":[{"name":"Department of Immunology, The Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4611-0577","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Walaszczyk","sequence":"additional","affiliation":[{"name":"Department of Anaesthesiology and Intensive Therapy, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Matysiak","sequence":"additional","affiliation":[{"name":"Department of Histology and Cell Pathology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurelia","family":"Morawiec-Knysak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology with Dialysis Division for Children, Public Clinical Hospital No. 1 in Zabrze, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5336-261X","authenticated-orcid":false,"given":"Tomasz","family":"Szczepa\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6772-1983","authenticated-orcid":false,"given":"Maria","family":"Szczepa\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13\/15, 41-800 Zabrze, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"McFarlane, P.A., Bitzan, M., Broome, C., Baran, D., Garland, J., Girard, L.P., Grewal, K., Lapeyraque, A.L., Patriquin, C.J., and Pavenski, K. 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