Case#: U.II.1, subject 50. Male. Age of Onset: 3.75 y.o. Age of evaluation: 9 y.o. Origin in Japan, Asian

DiseaseAssertion: Diagnosis with CVID (later with CTLA4 insufficiency)

FamilyInfo: Patient is oldest of three siblings. All three have been genotyped, but only this proband is affected. Variant inherited from the father, who is also unaffected (pedigree in Figure 1).

CasePresentingHPOs: HP:0001873, HP:0001973, HP:0004313, HP:0002720, HP:0004315, HP:0002719, HP:0005353

CaseHPOFreeText: Cytopenia, Autoimmune cytopenia, hypogammaglobulinemia, low IgG, low IgA, Clinically reactivated/apparent Infections, Herpes Infection, clinical EBV infection (possibly chronic?), ITP, positive Coombs test

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PreviouslyPublished: Unpublished

Variant: NM_005214.5(CTLA4):c.494G>A (p.W165*)

ClinVarID: N/A

CAID: CA350138939

gnomAD: This variant is not found in gnomAD v2.1.1.

SupplementalData: Extensive data in S1, including some phenotypes that were tested for but found to be absent.

Note: Not functionally tested using transendocytosis.