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["ID","Gene","HGVS c","HGVS p","Expected Phenotype","Sex","Age","Race","PreviouslyHealthy","PrimaryDx","SecondaryDx","Pathogens Within +/-2d of enrollment","Ferritin >500ng/ml","CRP > 10mg/dl","Plts < 150 x 10^3/ul","Lymphs <1000/ul","Renal Failure","Cardiovascular Failure","Pulmonary Failure","CNS Failure","Liver Failure","Hematologic Failure","Mortality"]
["P264","TAP1","c.147_148insA","p.Pro50ThrfsTer14","MHC class 1 deficiency","Female",{"v":6.589041095890411,"d":"6.59"},"White","No","Status epilepticus","Seizure\nUrinary tract infection\nPompe disease\nChronic respiratory failure","Escherichia coli urinary tract infection",0,0,0,0,0,0,0,1,0,0,0]
["P034","SRP72","c.20_21insT","p.Val9GlyfsTer9","SRP72-deficiency","Male",{"v":6.567123287671233,"d":"6.57"},"White","No","Sepsis","Hypothermia\nHyponatremia\nHypocortisolism","Human metapneumovirus nasopharyngeal PCR",1,0,1,0,1,1,1,0,0,0,1]
["P051","POLD1","c.1539delG","p.Lys514ArgfsTer17","Polymerase deficiency","Female",{"v":0.2821917808219178,"d":"0.28"},"Black","Yes","Altered mental status","Seizures\nCerebal venous sinus thrombosis\nMSSA bacteremia\nParatonsilar abscess\nThrombocytopenia\nDisseminated intravascular coagulation\nAcute respiratory distress\nSuspected immunodeficiency\nHypertonia","Staphylococcus aureus blood culture\nStaphylococcus aureus respiratory culture",1,1,1,0,0,0,1,1,0,0,0]
["P070","IL17RA","c.1188delG","p.Lys397AsnfsTer30","IL17-RA deficiency","Female",{"v":15.178082191780822,"d":"15.18"},"Other/Unknown","Yes","Liver Failure","Parainfluenza Infection\nAcute Transaminitis\nAltered Mental Status","Parainfluenza nasopharyngeal PCR",1,0,1,1,1,1,0,1,1,0,0]
["P041","STAT1","c.890delA","p.Asn297ThrfsTer39","STAT 1 deficiency","Male",{"v":5.49041095890411,"d":"5.49"},"Black","No","Severe sepsis","Gram negative septic shock\nAcute renal failure\nAcute sickle cell crisis\nCoagulopathy\nDisseminated intravascular coagulation","Escherichia coli urinary tract infection\nEscherichia coli bronchoalveolar lavage",1,1,1,1,1,1,1,1,1,1,0]
["P321","TERT","c.560del","p.Pro187ArgfsTer164","Dyskeratosis congenita/Aplastic anaemia","Female",{"v":2.421917808219178,"d":"2.42"},"White","Yes","Respiratory syncytial virus bronchiolitis","Shock\nRespiratory Failure","Coronavirus nasopharyngeal PCR\nRespiratory syncytial virus nasopharyngeal PCR\nStaphylococcus Aureus abscess",0,1,0,1,0,1,0,0,0,0,0]
["P232","CFHR5","c.485_486dup","p.Glu163LysfsTer10","Haemolytic uraemic syndrome, atypical","Female",{"v":1.6794520547945206,"d":"1.68"},"White","Yes","Respiratory failure","Pneumonia\nShock","Respiratoryiratory syncytial virus nasopharyngeal PCR\nHaemophilus influenzae respiratory culture",0,0,0,1,0,1,1,0,0,0,0]
["P189","SKIV2L","c.3055dupC","p.Arg1019ProfsTer36","Trichohepatoenteric syndrome","Female",{"v":1.736986301369863,"d":"1.74"},"White","No","Septic shock","Respiratory failure\nAcute Respiratory Distress Syndrome\nFluid overload\nAnemia\nSodium channelopathy","Culture negative",0,1,1,0,0,1,1,0,0,0,0]
["P072","ERBB2IP","c.1303delG","p.Asp435MetfsTer46","ERBIN deficiency","Male",{"v":2.2739726027397262,"d":"2.27"},"White","No","Tracheitis","Seizures\nPneumonia","Pseudomonas Aeruginosa respiratory culture\nSerratia Marcescens respiratory culture\nYeast respiratory culture\nStaphylococcus aureus respiratory culture\nStenotrophomonas Maltophilia respiratory culture",1,1,1,1,0,1,1,0,1,1,0]
["P341","CFHR5","c.61del","p.Thr21HisfsTer50","Haemolytic uraemic syndrome, atypical","Male",{"v":4.323287671232877,"d":"4.32"},"White","No","Status epilepticus","None","Coronavirus nasopharyngeal PCR\nRespiratory syncytial virus nasopharyngeal PCR",0,0,0,1,0,1,0,0,0,0,0]
["P334","TERT","c.336del","p.Glu113ArgfsTer15","Dyskeratosis Congenita/Aplastic anaemia","Female",{"v":2.654794520547945,"d":"2.65"},"White","No","Respiratory Distress","Respiratory syncytial virus bronchiolitis\nPneumonia\nChronic lung disease","Respiratory syncytial virus nasopharyngeal PCR",0,1,1,0,0,0,1,0,0,0,0]
["P002","XIAP","c.738delT","p.Asp247IlefsTer46","XIAP deficiency","Male",{"v":8.854794520547944,"d":"8.85"},"White","No","Toxic shock","None","Culture Negative",1,0,1,1,0,1,0,1,0,1,0]
["P193","FANCD2","c.3463delA","p.Ile1155LeufsTer43","Fanconi anaemia","Female",{"v":15.419178082191781,"d":"15.42"},"Black","Yes","Pneumonia","Acute respiratory failure","Culture Negative",0,1,0,1,0,1,1,0,0,0,0]
["P289","MEFV","c.414del","p.Ala139LeufsTer20","Mediterranean fever, familial","Female",{"v":1.4493150684931506,"d":"1.45"},"Black","No","Respiratory failure","Acute viral bronchiolitis\nLeft ventricular diastolic dysfunction\nHypoplastic right lung\nPartial Anomolous Pulmonary Venous Return","Rhinovirus nasopharyngeal PCR\nCitrobacter amalonaticus urinary tract infection",0,0,0,0,0,1,1,0,0,0,0]
["P066","RTEL1","c.2332C>T","p.Arg778Ter","Dyskeratosis congenita (RTEL1) deficiency","Male",{"v":1.989041095890411,"d":"1.99"},"Black","No","Acute respiratory failure","Pulmonary hypertension\nRespiratory syncytial virus bronchiolitis\nSuperimposed bacterial pneumonia","Pseudomonas aeruginosa respiratory culture",1,1,1,1,0,1,1,0,0,1,0]
["P062","REL","c.1086delA","p.Glu363AsnfsTer11","c-Rel deficiency","Male",{"v":1.7808219178082192,"d":"1.78"},"Black","Yes","Respiratory distress","Accidental hydrocarbon ingestion","Haemophilus influenzae respiratory culture\nAdenovirus nasopharyngeal PCR\nRhinovirus/Enterovirus nasopharyngeal PCR",1,1,1,0,0,1,1,0,0,1,0]
["P109","IRF4","c.402_403delAGinsGT","p.Gly135Ter","IRF4 haploinsufficiency","Male",{"v":0.2410958904109589,"d":"0.24"},"White","Yes","Septic Shock","Acute Respiratory Failure","Streptococcus pneumoniae respiratory culture\nHaemophilus influenzae respiratory culture\nRespiratoryiratory synctial virus B ",0,0,0,0,0,1,1,0,0,0,0]
["P305","GATA2","c.16dup","p.Glu6GlyfsTer179","GATA2 deficiency","Male",{"v":3.389041095890411,"d":"3.39"},"Black","No","Respiratory failure","Status asthmaticus\nChronic lung disease\nShock\nFluid overload","Respiratoryiratory syncytial virus \nRhinovirus/Enterovirus nasopharyngeal PCR\nStreptococcus pneumoniae respiratory culture\nHaemophilus influenzae respiratory culture \nProteus mirabilis urine culture",0,0,0,0,0,1,1,0,0,0,0]
["P120","ACD","c.1285_1286insC","p.Ser429ThrfsTer10","Ataxia pancytopenia syndrome","Female",{"v":0.6273972602739726,"d":"0.63"},"White","Yes","Septic Shock","Respiratory Failure\nHuman metapneumovirus","Human metapneumovirus nasopharyngeal PCR\ngroup A Streptococcus Pleural Fluid\ngroup A Streptococcus Blood culture",0,1,1,0,0,1,0,0,1,0,0]
["P014","ITGB2","c.821dupA","p.Leu275AlafsTer39","Leukocyte adhesion deficiency type 1","Female",{"v":6.635616438356164,"d":"6.64"},"White","No","Status epilepticus","Posterior reversible encephalopathy syndrome\nAcute respiratory failure\nRadiation injury of brain","Cytomegalovirus blood PCR\nEpstein-Barr virus blood PCR\nEscherichia coli urinary tract infection",1,1,1,1,0,1,1,0,1,0,1]
["P210","KMT2D","c.6955dup","p.Leu2319ProfsTer7","Kabuki syndrome","Female",{"v":16.756164383561643,"d":"16.76"},"White","No","Respiratory failure","Pneumonia\nDehydration","Staphylococcus aureus respiratory culture",0,1,1,1,0,1,1,0,0,0,0]
["P210","TBX1","c.1452del","p.Ala485ArgfsTer?","DiGeorge Syndrome/TBX1 deficiency","Female",{"v":16.756164383561643,"d":"16.76"},"White","No","Respiratory failure","Pneumonia\nDehydration","Staphylococcus aureus respiratory culture",0,1,1,1,0,1,1,0,0,0,0]
["P058","ERBB2IP","c.3053delA","p.Asn1018IlefsTer11","ERBIN deficiency","Male",{"v":0.5260273972602739,"d":"0.53"},"White","No","Acute respiratory distress","Ascites\nHepatic veno-occlusive disease\nBone marrow transplant\nCongential thrombocytopenia\nWiskott Aldrich Syndrome\nAcute liver failure","Culture negative",1,0,1,1,1,1,1,0,1,1,0]
["P043","RTEL1","c.2879dupG","p.Leu962ProfsTer4","Dyskeratosis congenita (RTEL1) deficiency","Male",{"v":2.8273972602739725,"d":"2.83"},"White","No","Septic shock","Neuroblastoma","Klebsiella oxytoca blood culture\nEnterobacter cloacae blood culture",1,1,1,1,0,1,1,0,0,0,0]
["P043","TTC37","c.2448delA","p.Ala817GlnfsTer2","TTC37 deficiency","Male",{"v":2.8273972602739725,"d":"2.83"},"White","No","Septic shock","Neuroblastoma","Klebsiella oxytoca blood culture\nEnterobacter cloacae blood culture",1,1,1,1,0,1,1,0,0,0,0]
["P128","SPINK5","c.1658dupT","p.Glu554ArgfsTer3","Netherton syndrome","Male",{"v":0.18356164383561643,"d":"0.18"},"White","No","Acute hypoxemic respiratory failure","Protein losing enteropathy syndrome\nEncounter for pre-transplant evaluation for heart transplant\nEncounter for palliative care\nSepsis\nAcute on chronic right ventricular systolic and diastolic failure\nPlastic bronchitis","Parainfluenza - Type 4 nasopharyngeal PCR\nAdenovirus nasopharyngeal PCR",0,1,1,1,1,1,1,1,1,1,1]
["P342","ITGB2","c.1323del","p.Leu442PhefsTer87","Leukocyte adhesion deficiency type 1","Male",{"v":4.120547945205479,"d":"4.12"},"White","Yes","Respiratory Distress","None","Rhinovirus/Enterovirus nasopharyngeal PCR\nInfluenza A - 2009 H1N1 nasopharyngeal PCR",0,0,1,1,0,1,1,0,0,0,0]
["P342","SLC39A7","c.170del","p.Gly57AlafsTer88","SLC39A7 (ZIP7) deficiency","Male",{"v":4.120547945205479,"d":"4.12"},"White","Yes","Respiratory Distress","None","Rhinovirus/Enterovirus nasopharyngeal PCR\nInfluenza A - 2009 H1N1 nasopharyngeal PCR",0,0,1,1,0,1,1,0,0,0,0]
["P307","CFH","c.920dup","p.Cys309MetfsTer18","Haemolytic uraemic syndrome, atypical","Male",{"v":0.3178082191780822,"d":"0.32"},"White","No","Acute respiratory insufficiency secondary to bronchiolitis","Chronic wolffe-parkison white\nRecent ICU admit with intubation","Culture negative",0,0,0,0,0,0,1,0,0,0,0]
["P038","CHD7","c.2413delA","p.Ile805LeufsTer2","CHARGE syndrome","Male",{"v":12.008219178082191,"d":"12.01"},"Other/Unknown","Yes","Influenza Associated ARDS","Pneumonia\nPulmonary hemorrhage\nDisseminated intravascular coagulation\nSeptic Shock","Influenza nasopharyngeal PCR",1,1,1,1,0,1,1,0,0,1,1]
["P075","CFHR4","c.1177+2T>C",null,"Haemolytic uraemic syndrome, atypical","Female",{"v":13.04109589041096,"d":"13.04"},"Other/Unknown","No","Respiratory failure","Spinal fusion","Staphylococcus aureus respiratory culture",1,1,0,0,0,1,1,0,0,0,0]
["P075","TCF3","c.1921dupC","p.His641ProfsTer61","Common variable immune deficiency","Female",{"v":13.04109589041096,"d":"13.04"},"Other/Unknown","No","Respiratory failure","Spinal fusion","Staphylococcus aureus respiratory culture",1,1,0,0,0,1,1,0,0,0,0]
["P061","IRF4","c.402_403delAGinsGT","p.Gly135Ter","IRF4 haploinsufficiency","Male",{"v":5.027397260273973,"d":"5.03"},"Black","Yes","Septic shock","None","Klebsiella Pneumoniae blood culture\nEnterococcus faecalis blood culture",1,1,1,1,0,1,0,0,0,1,0]
["P167","CFH","c.2931delA","p.Lys977AsnfsTer9","Haemolytic uraemic syndrome, atypical","Male",{"v":3.0164383561643837,"d":"3.02"},"Black","No","Fever","Pneumonia","Staphylococcus aureus (MRSA) respiratory culture",0,0,1,0,0,1,1,0,0,1,0]