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?

Case#: Hui_2016, female, 2 yo (presentation), origin NR

DiseaseAssertion: APDS

FamilyInfo: variants verified in patient's parents, found to be de novo. It is unclear if case 2 and case 4 are related or unrelated.

CasePresentingHPOs: recurrent respiratory infections, enlargement of lymph node, hepatosplenomegaly, decreased number of native CD4 + T cells, inverted CD4 + /CD8 + T cell ratio and increased IgM, decreased IgA, decreased IgG,

HP:0002205, HP:0002716, HP:0001433, HP:0002720, HP:0032218, HP:0033222, HP:0002720, HP:0003496

CaseHPOFreeText: cytomegalovirus (CMV) or Epstein-Barr virus (EBV) viremia

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

CasePreviousTesting: NR

GenotypingMethod: WGS

PreviouslyPublished: NR

Variant: HOMOZYGOUS 3061G>A (E1021K)

ClinVarID: 88675

CAID: N/A

gnomAD: not found in v2.1.1

SupplementalData: unknown

Note: Full access to article denied. Info in annotation gathered from abstract. Also, please be advised the curator translated the article from Chinese to English, and mistranslations are possible.