Case#: Collen_2022_Patient_2, female, <1 y.o. (onset) 14 y.o. (report), Ethnicity reported: Hispanic

DiseaseAssertion: CTLA4 haploinsufficiency

FamilyInfo: reported de novo, but no evidence

CasePresentingHPOs: HP:0002014, HP:0002013, HP:0001508, HP:0001508, HP:0001510, HP:0002018, HP:0002027, HP:0032249, HP:0031035, HP:0005263, HP:0010783, HP:0004313, (diarrhea, vomiting, failure to thrive, lack of growth, chronic nausea, abdominal pain, lung coccidiomycosis, persistent villous atrophy, diffuse stomach inflammation, erythema, mucus plaques, hypogammaglobulinemia)

CaseHPOFreeText: Patient is from an endemic coccidiomyosis region. Increased intra-epithelial lymphocytes, mucoid plaque, scalloping of the duodenum, lamina proprietor expansion, poor response to polysaccharide pneumoccal vaccine

CaseNotHPOs: HP:0002608 (celiac serologies)

CaseNotHPOFreeText: TTG, IgA, EMA, HLA, DQ2, and DQ8 were negative. Bowel wall thickening. abnormal ileocolonoscopy

CasePreviousTesting: Primary immunodeficiency gene panel testing by Invitae

GenotypingMethod: Primary immunodeficiency gene panel testing by Invitae

PreviouslyPublished: not reported

Variant: de novo heterozygous c.71_72del (p.Leu24Profs*35) in exon 1 (NM_005214.5:c.71_72del)

ClinVarID: 1439020

CAID: CA2573320555

gnomAD: not reported

SupplementalData: n/a

MultipleGeneVariants: A heterozygous variant in PLCG2 (c.802C>T, p.Arg268Trp) detected (ClinVarID:403319, CAID:CA8193460). It is not usually reported in the panel. The authors ruled it out because the variant was found in 5 of 66 patients with disseminated coccidiomycosis in PMID:PMC7776098. The variant has been associated with autoimmune diseases according to OMIM. It is present in gnomAD (MAF: 0.101, Ashkenazi Jewish). It has been classified as benign in ClinVar.