Case#: T.II.1, subject 48. Male. Age of Onset: 1.5 y.o. Age of evaluation: 21 y.o. Origin in UK, Caucasian.

*DiseaseAssertion: Cytopenia, Evans syndrome

*FamilyInfo: Father had died post autologous HSCT for non-Hodgkin lymphoma. See "supplement 1".

CasePresentingHPOs: ORPHA:1959

CaseHPOFreeText: Severe Psoriatic Arthritis (only patient noted to have it within the study), received a Hematopoietic stem cell transplantation and was one of nine affected mutation carriers still alive and one of three who was more than five years post-HSCT and currently well off all medication at the time of publication.

*CaseNotHPOs: large phenotype table with unreported symptoms in table S1

*CaseNotHPOFreeText: Patient was checked for a number of additional phenotypes but none were identified. Please see Supplementary table S1 for details.

CasePreviousTesting: Genome-wide methods were not used (sequencing of CTLA4 was performed, but no reference made to other genes tested). Some families received whole-exome sequencing but we are unsure if this patient was included.

GenotypingMethod: The authors imply that they sequenced the four exons of CTLA4.

PreviouslyPublished: Yes, Slatter, et al. PMID: 27102614

Variant: c.518G>A, p.G173E

ClinVarID: N/A

CAID: CA350138990

gnomAD: Not Found

SupplementalData: extensive data in S1

Note: Not functionally tested using transendocytosis

Willis, O. (2021, October 19). The pandemic won’t end with a bang, but more likely a fizzle. Here’s how. ABC News. https://www.abc.net.au/news/health/2021-10-20/covid-19-pandemic-when-does-it-end-become-endemic-like-flu/100549816

https://twitter.com/GYamey/status/1453132196416524292?s=20&t=REKS2qu5Ti7lby2jmu6Imw

Morris, J. (2021, August 17). Israeli data: How can efficacy vs. severe disease be strong when 60% of hospitalized are vaccinated? Covid Data Science. https://www.covid-datascience.com/post/israeli-data-how-can-efficacy-vs-severe-disease-be-strong-when-60-of-hospitalized-are-vaccinated

Carl T. Bergstrom. (2021, August 18). 1. There has been lots of talk about recent data from Israel that seem to suggest a decline in vaccine efficacy against severe disease due to Delta, waning protection, or both. This may have even been a motivation for Biden’s announcement that the US would be adopting boosters. [Tweet]. @CT_Bergstrom. https://twitter.com/CT_Bergstrom/status/1427767356600688646

Lehnen, N., Glasauer, S., Schröder, L., Regnath, F., Biersack, K., Bergh, O. V. den, & Werder, D. von. (2022). Post-COVID symptoms in the absence of organic deficit—Lessons from diseases we know. PsyArXiv. https://doi.org/10.31234/osf.io/yqar2

Kozlov, Max. ‘COVID-Vaccine Booster Shot Shows Promise in Israeli Study’. Nature, 16 September 2021. https://doi.org/10.1038/d41586-021-02516-4.

The BMJ. ‘Does the FDA Think These Data Justify the First Full Approval of a Covid-19 Vaccine?’, 23 August 2021. https://blogs.bmj.com/bmj/2021/08/23/does-the-fda-think-these-data-justify-the-first-full-approval-of-a-covid-19-vaccine/.

Garcia-Beltran et al showed that severely ill patients had the highest levels of antibodies. Anti-RBD IgG neutralisation was reduced in severely ill patients. The authors developed an antibody neutralisation potency index to indicate patients more likely to develop severe disease.

Garcia-Beltran WF, Lam EC, Astudillo MG, Yang D, Miller TE, Feldman J, et al. COVID-19-neutralizing antibodies predict disease severity and survival. Cell. 2021;184(2):476-88.e11.