Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Jul;43(5):902-906.
doi: 10.1007/s10875-023-01460-4. Epub 2023 Mar 9.

Phenotypic Variability of SOCS1 Haploinsufficiency

Rebecca C Hale  1 , Nichole Owen  2 , Bo Yuan  3   4 , Ivan K Chinn  5 ; SOCS1 Study Group
Collaborators, Affiliations

Phenotypic Variability of SOCS1 Haploinsufficiency

Rebecca C Hale et al. J Clin Immunol. 2023 Jul.
No abstract available

PubMed Disclaimer

References

    1. Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020;583(7814):90–5. - DOI - PubMed - PMC
    1. Lee PY, Platt CD, Weeks S, Grace RF, Maher G, Gauthier K, et al. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020;146(5):1194–200.e1. - DOI - PubMed - PMC
    1. Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, et al. Early-onset autoimmunity associated with SOCS1 haploinsufficiency. Nat Commun. 2020;11(1):5341. - DOI - PubMed - PMC
    1. Michniacki TF, Walkovich K, DeMeyer L, Saad N, Hannibal M, Basiaga ML, et al. SOCS1 haploinsufficiency presenting as severe enthesitis, bone marrow hypocellularity, and refractory thrombocytopenia in a pediatric patient with subsequent response to JAK inhibition. J Clin Immunol. 2022;42(8):1766–77. - DOI - PubMed - PMC
    1. Körholz J, Gabrielyan A, Sowerby JM, Boschann F, Chen LS, Paul D, et al. One gene, many facets: multiple immune pathway dysregulation in SOCS1 haploinsufficiency. Front Immunol. 2021;12:680334. - DOI - PubMed - PMC

Publication types

MeSH terms

Substances

LinkOut - more resources