Case#: 12, M, 5 y.o., Ethnicity: Indian.

CasePresentingHPOs: HP:0001945 (Fever), HP:0001824 (Weight loss), HP:0002716 (Lymphadenopathy/FHL), HP:0003212 (Increased circulating IgE level), HP:0002716 (Lymphadenopathy), HP:0009098 (Chronic oral candidiasis), HP:0002841 (Recurrent fungal infections), HP:0032326 (Methicillin-resistant Staphylococcus aureus infection), HP:0020271 (Increased lymph-node eosinophils), HP:0100827 (Lymphocytosis), HP:0003237 (Increased circulating IgG level), HP:0002090 (Pneumonia)

CaseHPOFreeText: Eosinophils 17%, fungal scrapes—positive. Methicillin-resistant Staphylococcus aureus pneumonia, oral candidiasis/Hyper IgE.

Suspected recurring pneumonia.

CaseNotHPOs: N/A.

CaseNotHPOFreeText: N/A.

CasePreviousTesting: N/A.

CaseMethod1: N/A.

CaseMethod2: N/A.

CaseGenotypingMethod: Sanger sequencing and NGS targeting a customized panel of genes.

Variant: NM_005026.5:c.2296G>A.

ClinVar: 846790.

CAID: CA577485.

gnomAD: 0.00001611. https://gnomad.broadinstitute.org/variant/1-9722305-G-A?dataset=gnomad_r4.

VariantEvidence: N/A.

CaseAddInfo: N/A.

CasePMIDs: N/A.