Signal transducer and activator of transcription 1 gain-of-function with refractory hemophagocytic lymphohistiocytosis

Ann Allergy Asthma Immunol. 2020 Nov;125(5):605-607.e1. doi: 10.1016/j.anai.2020.06.042. Epub 2020 Jul 3.

Authors

Victoria Eng¹, Toska Joze Zomorodian², Shefali Anil Samant³, Timothy James Maarup⁴, Javed Sheikh³

Affiliations

¹ Department of Allergy and Immunology, Kaiser Permanente Los Angeles Medical Center, Los Angeles, California. Electronic address: victoria.eng@kp.org.
² Department of Hematology and Oncology, Kaiser Permanente Downey Medical Center, Downey, California.
³ Department of Allergy and Immunology, Kaiser Permanente Los Angeles Medical Center, Los Angeles, California.
⁴ Department of Genetics, Kaiser Permanente Downey Medical Center, Downey, California.

PMID: 32629017
DOI: 10.1016/j.anai.2020.06.042

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Child, Preschool
Gain of Function Mutation*
Hashimoto Disease / etiology
Hematopoietic Stem Cell Transplantation / adverse effects*
Humans
Lymphohistiocytosis, Hemophagocytic / genetics*
Lymphohistiocytosis, Hemophagocytic / immunology
Lymphohistiocytosis, Hemophagocytic / surgery
Male
STAT1 Transcription Factor / genetics*
STAT1 Transcription Factor / immunology

Substances

STAT1 Transcription Factor
STAT1 protein, human