Case#: Garcia-Perez_2019_B.II.1, male

DiseaseAssertion: CTLA4 haploinsufficiency

FamilyInfo: mother is an asymptomatic carrier

CasePresentingHPOs: HP:0100651, HP:0000872, HP:0002242 (Type 1 diabetes, autoimmune thyroidosis, enteropathy)

CaseHPOFreeText: none

CaseNotHPOs: none

CaseNotHPOFreeText: none

CasePreviousTesting: none

GenotypingMethod: Sanger sequencing

PreviouslyPublished: not reported

Variant: NM_005214.5(CTLA4):c.457G>A

ClinVarID: 636389

CAID: CA350138843

gnomAD: not found

SupplementalData: n/a

Case#: Yap_2020_P1, male, 52, origin in Italy

DiseaseAssertion: CTLA4 haploinsufficiency

FamilyInfo: pedigree in fig 1a. unaffected brother

CasePresentingHPOs: HP:0012378, HP:0046504, HP:0100543, HP:0002028, HP:0030375, HP:0001888, HP:0002242, HP:0001369, HP:0100726 (excessive fatigue, poor libido, cognitive dysfunction, chronic diarrhea, increased memory B cells, lymphopenia, enteropathy, arthritis, Kaposi's sarcoma)

CaseHPOFreeText: diagnosed with cutaneous and nodal cKS secondary to HHV8 infection, hypersomnolence, polyarthralgia, increased DB T cells, decreased SP T cells, decreased CTLA4 expression on Tregs

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: negative for cKS-associated genes: IFNGR1, WAS, STIM1, or TNFRSF4

GenotypingMethod: WGS followed by Sanger sequencing

PreviouslyPublished: not reported

Variant: NM_005214.49(CTLA4):c.457G>A (p.Asp153Asn)

ClinVarID: 636389

CAID: CA350138843

gnomAD: not found

SupplementalData: n/a

note: experimental data (decreased expression in Tregs, figure 1F).