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 |