The first case is that of a female whose clinical onset was at 56 years old with a diagnosis of hemolytic anemia due to the presence of warm antibodies and inguinal lymphadenopathies in 2006.
Case#: Female, age of onset: 56, age at testing: 69, age of last documented clinical stability: 74
DiseaseAssertion: suspected hyperactivation of the PI3K pathway; implied earlier in the paper as "activated PI3Kδ syndrome (APDS)"
FamilyInfo: no relevant family history
CasePresentingHPOs: HP:0001878, HP:0012735, HP:0000975, HP:0002716, HP:0012387, HP:0001744, HP:6000143, HP:0004313, HP:0002721, HP:0006530, HP:0002788 (hemolytic anemia, cough, diaphoresis, lymphadenopathy, bronchitis, splenomegaly, perforated appendicitis, hypogammaglobulinemia, immunodeficiency, interstitial lung disease, recurrent upper respiratory tract infections)
CaseHPOFreeText: asthenia, sarcoidosis due to chronic granulomatous sarcoid-type inflammation without necrosis, bronchiectasis with bronchiolitis, wound infection, abdominal wall dehiscence, common variable immunodeficiency (CVID) with immune dysregulation, CVID-associated interstitial lung disease, granulomatous-lymphocytic interstitial lung disease
CaseNotHPOs: HP:0012759 (neurodevelopmental abnormalities)
CaseNotHPOFreeText: dysmorphic features, learning difficulties
CasePreviousTesting: clinical exome sequencing targeting genes associated with primary immunodeficiencies
GenotypingMethod: sequencing
PreviouslyPublished: No prior article is known to contain information on the same proband.
Variant: NM_181504.3(PIK3R1):c.5A > T (p.Tyr2Phe)
ClinVar: not found
CAID:CA3290217
gnomAD: 0.3004% https://gnomad.broadinstitute.org/variant/5-67586561-A-T?dataset=gnomad_r2_1
SupplementalData: There is no supplemental data, clinical timeline and schematic with noted variants are in Figure 2 and Figure 3