The second case of interest that we report here is that of a 13-year-old female who presented in 2002 with recurrent diarrhea, fever, and bloody diarrhea.
Case#: Female, age of onset: 13, age at testing: 32, age of last documented clinical stability: 34
DiseaseAssertion: suspected hypoactivation of the PI3K pathway
FamilyInfo: maternal grandmother with rheumatoid arthritis, eldest sister died at 4 months due to septic shock after enteritiis
CasePresentingHPOs: HP:0002028, HP:0001945, HP:0025085, HP:0100279, HP:0002090, HP:0012388, HP:0033256, HP:0004313 (recurrent diarrhea, fever, bloody diarrhea, ulcerative colitis (UC), pneumonia, and multiple episodes of acute bronchitis, pancolitis due to Clostridioides difficile infection, hypogammaglobulinemia)
CaseHPOFreeText: salmonellosis, psoriasis and psoriatic arthropathy affecting large joints, reduced B-cell compartment, bronchiectasis suggestive of CVID, unresponsive vaccination test, esophageal dysphagia, neutrophilic esophagitis
CaseNotHPOs: HP:0001249 (intellectual disability)
CaseNotHPOFreeText: dysmorphic features, patient has normal psychomotor and cognitive development,
CasePreviousTesting: clinical exome sequencing
GenotypingMethod: sequencing
PreviouslyPublished: No prior article is known to contain information on the same proband.
Variant: NM_005026.5(PIK3CD): [c.2608C > T (p.Arg870)] ; [c.2608C > T (p.Arg870)]
ClinVar: not
CAID:CA338307789
gnomAD: 0.0003%
SupplementalData: There is no supplemental data, clinical timeline and schematic with noted variants are in Figure 2 and Figure 3