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. 2023 Sep 12;14:1215869. doi: 10.3389/fimmu.2023.1215869
HPO Human Phenotype Ontology
IEI inborn errors of immunity
SAID systemic autoinflammatory disease
WES whole-exome sequencing
LIRICAL Likelihood Ratio Interpretation of Clinical Abnormalities
NGS next-generation sequencing
VIP Variant Interpretation Pipeline
DTA Data Transfer Agreement
LR likelihood ratio
VCF Variant Call Format
HTML Hyper Text Markup Language
TSV Tab-Seperated Value
YAML Yet Another Markup Language
B benign
LB likely benign
VUS variant of unknown significance
LP likely pathogenic
P pathogenic
IUIS International Union of Immunological Societies
CI confidence interval
AFND/PAAND neutrophilic dermatosis, acute febrile
AGS1 Aicardi–Goutières syndrome 1
AGS8 Aicardi–Goutières syndrome 8
AGS9 Aicardi–Goutières syndrome 9
AIADK vitiligo-associated multiple autoimmune disease susceptibility 1
AIEFL autoinflammation with episodic fever and lymphadenopathy
AIFEC autoinflammation with infantile enterocolitis
AILJK autoimmune interstitial lung, joint, and kidney disease
AIPDS autoinflammation, panniculitis, and dermatosis syndrome
AISBL autoinflammatory syndrome, familial, Behcet-like
AISIMD autoinflammatory syndrome, familial, with or without immunodeficiency
BLAUS Blau syndrome
CINCA CINCA syndrome
DADA2 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
DIRA interleukin 1 receptor antagonist deficiency
DITRA psoriasis 14, pustular
FCAS1 familial cold inflammatory syndrome 1
FCAS4 familial cold autoinflammatory syndrome 4
FMF_AD familial Mediterranean fever, AD
FMF_AR familial Mediterranean fever, AR
HIDS hyper-IgD syndrome
HLPS histiocytosis-lymphadenopathy plus syndrome
IMD72 immunodeficiency 72 with autoinflammation
IMD75 immunodeficiency 75
MAJEED Majeed syndrome
MEVA mevalonic aciduria
MWS Muckle–Wells syndrome
NISBD1 inflammatory skin and bowel disease, neonatal, 1
PAPA pyogenic sterile arthritis, pyoderma gangrenosum, and acne
PDR pigmentary disorder, reticulate, with systemic manifestations, X-linked
PLAID familial cold autoinflammatory syndrome 3
PRAAS1 proteasome-associated autoinflammatory syndrome 1 and digenic forms
PSORS15 psoriasis 15, pustular, susceptibility to
PSORS2 psoriasis 2
PTORCH3 pseudo-TORCH syndrome 3
SAVI STING-associated vasculopathy, infantile-onset
SGD1 specific granule deficiency
SPENCDI spondyloenchondrodysplasia with immune dysregulation
TKS Takenouchi–Kosaki syndrome
TRAPS periodic fever, familial, autosomal dominant
VEXAS VEXAS syndrome, somatic
cherubism cherubism