The Center for Pediatric Immunology at Washington University and St. Louis Children’s Hospital, with funding from the St. Louis Children’s Hospital Foundation, seeks to provide an infrastructure that will enable the genetic diagnosis of pediatric patients with inborn errors of immunity.

The center focuses on using state-of-the-art sequencing technologies available through the McDonnell Genome Institute combined with functional studies of the immune system to provide insight into why children have immune dysregulation. The long-term goal of the center is to provide children with immune system disorders a target that can be therapeutically treated.

Select publications

A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice

August 5, 2024

Toth KA, Schmitt EG, Kolicheski A, Greenberg ZJ, Levendosky E, Saucier N, Trammel K, Oikonomou V, Lionakis MS, Klechevsky E, Kim BS, Schuettpelz LG, Saligrama N, Cooper MA. A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice. J Exp Med. 2024 Aug 5;221(8):e20232091. doi: 10.1084/jem.20232091. Epub 2024 Jun 11. PMID: 38861030; PMCID: PMC11167377.

Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function

December 22, 2023

Guess R, Harocopos G, Bednarski JJ, Hassmann LM, Bigley TM. Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function. J Clin Immunol. 2023 Dec 22;44(1):19. doi: 10.1007/s10875-023-01622-4. PMID: 38129715; PMCID: PMC10739487.

STAT1 Gain-of-Function Leading to Clinical Behçet’s Syndrome

August 1, 2023

Aluri J, Schmitt EG, Du M; STAT1 Behçet’s working group; Cooper MA. STAT1 Gain-of-Function Leading to Clinical Behçet’s Syndrome. J Clin Immunol. 2023 Aug;43(6):1155-1158. doi: 10.1007/s10875-023-01515-6. Epub 2023 May 16. PMID: 37188830.

Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease

May 15, 2023

Toth KA, Schmitt EG, Cooper MA. Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease. J Immunol. 2023 May 15;210(10):1463-1472. doi: 10.4049/jimmunol.2200905. PMID: 37126806; PMCID: PMC10151837.

A Case of Severe Combined Immunodeficiency Missed
by Newborn Screening

September 1, 2021

Mantravadi V, Bednarski JJ, Ritter MA, Gu H, Kolicheski AL, Horner C, Cooper MA, Kitcharoensakkul M. Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S. Front Immunol. 2021 Sep 3;12:734096. doi: 10.3389/fimmu.2021.734096. PMID: 34539671; PMCID: PMC8446381.

A Case of Severe Combined Immunodeficiency Missed
by Newborn Screening

August 1, 2021

Kitcharoensakkul M, Aluri J, Elsharkawi I, Steed A, Putnam CD, Swayampakula AK, Cooper MA, Bednarski JJ. A Case of Severe Combined Immunodeficiency Missed by Newborn Screening. J Clin Immunol. 2021 Aug;41(6):1352-1355. doi: 10.1007/s10875-021-01020-8. Epub 2021 Mar 12. PMID: 33712943; PMCID: PMC7954206.

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