Case#: Ye_2022_PL16, male, 1.5 yr (onset), Caucasian ancestry reported

DiseaseAssertion: APDS

FamilyInfo: affected, genotype positive half-sibling F2P2 in PMID: 24610295. In this article, identified as PL17. Shared mother most likely has germinal mosaicism.

CasePresentingHPOs: lymphoma (HP:0002665), elevated IgM (HP:0003496) recurrent severe sinopulmonary infections (HP:0005425) otitis media (HP:0000388) lymphadenitis (HP:0002840) rectal abscesses (HP:0005224) cellulitis (HP:0100658) bronchiectasis (HP:0002110) lymphoproliferation (HP:0005523) eczematous dermatitis (HP:0000964) HSV super-infection (HP:0005353) dysmorphic facial features (HP:0001999) osteoporosis complicated by vertebral collapse (HP:0000939) nephrolithiasis (HP:0000787) cholelithiasis (HP:0001081)

CaseHPOFreeText: elevated CD3+ percentage pneumococcal sepsis hypertrophy of lymphoid tissues in the GI tract delayed sexual maturation poor vaccine response

CaseNotHPOs: abnormal IgG (HP:0410242) abnormal IgA (HP:0410240) abnormal lymphocyte count (HP:0040088)

CaseNotHPOFreeText: abnormal B-cell count abnormal CD4+ percentage abnormal CD8+ percentage abnormal NK percentage

CasePreviousTesting:

GenotypingMethod: Targeted sequencing panel of 715 cancer-related genes

PreviouslyPublished: Yes, F2P3 in Crank 2014 (PMID:24610295)

Variant: c.1246T>C, p.C416R

ClinVarID: 132808

CAID:

gnomAD: NR

SupplementalData: S2 provides more information on the lymphoma.