c.518G>A
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