Case#: Lougaris_2020_case, male, 12 yo (onset), origin in romania

DiseaseAssertion: APDS

FamilyInfo: non-consanguinous

CasePresentingHPOs: rash HP:0000988 pruritus HP:0000989 arthritis HP:0001369 splenomegaly HP:0001744 fever HP:0001945 lymphoma HP:0002665 arthralgias HP:0002829 increased ferritin HP:0003281 hepatitis HP:0012115 desquamation HP:0040189 malaise HP:0033834 increaased effector memory CD4 T cells HP:0025625

CaseHPOFreeText: increased AST, lymphadenomegaly, presence of rare hemophagocytes in bone marrow, elevated effector memory CD8 T cells, impaired peripheral B cell distribution, increased glucose metabolism in lymph nodes and spleen, increased IgG-positive plasma cells in the germinal centre and in the interfollicular area

CaseNotHPOs: EBV HP:0031693 Cytomegalovirus (CMV) HP:0031692 Abnormal NK count HP:0040089

CaseNotHPOFreeText: Herpes virus type I and II, Human herpes virus 8 (HHV8)

CasePreviousTesting:

GenotypingMethod: NGS

PreviouslyPublished: NR

Variant: c.323G > T: p.R108L

ClinVarID: 636973

CAID:

gnomAD: 0.00002823 Admixed American (1/35426)

SupplementalData:

Note: rash followed by desquamation - possible eczma?

Experimental Assay