{"id":"W3081631090","doi":"10.1186/s13223-020-00473-7","title":"Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report","year":2020,"lang":"en","type":"article","venue":"Allergy Asthma and Clinical Immunology","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Allergy and Infectious Diseases; National Institutes of Health; Agence Nationale de la Recherche","keywords":"ISG15; Phenotype; Exome sequencing; Compound heterozygosity; Gene; Ubiquitin; Medicine; Biology; Immunology; Genetics; Bioinformatics; Cancer research","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000135746,0.000251131,0.000432683,0.0001033629,0.0002242149,0.00001818224,0.0001340206,0.000420523,0.0002804756],"category_scores_gemma":[0.0004261327,0.0002077501,0.00007235424,0.0001315583,0.0007032386,0.0001154446,0.0002391778,0.0007229575,0.00006762478],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001855681,"about_ca_system_score_gemma":0.0003067697,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003768846,"about_ca_topic_score_gemma":0.0005750438,"domain_scores_codex":[0.9976129,0.00051325,0.0008593341,0.0005785351,0.00003509614,0.0004008799],"domain_scores_gemma":[0.9987255,0.0005974929,0.0002586225,0.0002625728,0.00006784482,0.00008793615],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.01643456,0.001731724,0.02684983,0.00006229871,0.001884718,0.6229128,0.008112125,0.00003416898,0.04756201,0.006854271,0.002115627,0.2654459],"study_design_scores_gemma":[0.004082001,0.007912247,0.09118631,0.0001423457,0.00006902801,0.8039865,0.008309531,0.00009505959,0.001057488,0.0002200801,0.0821746,0.0007647534],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893319,0.006263585,0.00008702133,0.002594679,0.0002820182,0.0002334378,0.000008755657,0.00006680976,0.001131814],"genre_scores_gemma":[0.996743,0.001320292,0.0001563818,0.0006065787,0.00002307675,0.00001613018,0.00004007194,0.00002170924,0.001072748],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2646811,"threshold_uncertainty_score":0.8471802,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01763766218592198,"score_gpt":0.2717642663158975,"score_spread":0.2541266041299755,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}