{ "url": "https://dantelabs.com/no/genes/cftr", "gene": { "slug": "cftr", "symbol": "CFTR", "name": "CF transmembrane conductance regulator", "hgnc": "HGNC:1884", "summary": null, "location": "7q31.2", "locusType": "gene with protein product", "aliases": [ "MRP7", "ABC35", "TNR-CFTR", "dJ760C5.1", "CFTR/MRP" ], "previousSymbols": [ "CF", "ABCC7" ], "ensemblId": "ENSG00000001626", "entrezId": 1080, "omim": [ "602421" ], "uniprot": [ "P13569" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 117480025, "end": 117668665, "strand": "+", "ensemblTranscript": "ENST00000003084.11", "refseqTranscript": "NM_000492.4", "ensemblProtein": "ENSP00000003084.6", "refseqProtein": "NP_000483.3", "exons": [ { "start": 117480025, "end": 117480147 }, { "start": 117504253, "end": 117504363 }, { "start": 117509034, "end": 117509142 }, { "start": 117530899, "end": 117531114 }, { "start": 117534276, "end": 117534365 }, { "start": 117535248, "end": 117535411 }, { "start": 117536548, "end": 117536673 }, { "start": 117540100, "end": 117540346 }, { "start": 117542016, "end": 117542108 }, { "start": 117548641, "end": 117548823 }, { "start": 117559464, "end": 117559655 }, { "start": 117587739, "end": 117587833 }, { "start": 117590353, "end": 117590439 }, { "start": 117591934, "end": 117592657 }, { "start": 117594930, "end": 117595058 }, { "start": 117602826, "end": 117602863 }, { "start": 117603532, "end": 117603782 }, { "start": 117606674, "end": 117606753 }, { "start": 117610519, "end": 117610669 }, { "start": 117611581, "end": 117611808 }, { "start": 117614613, "end": 117614713 }, { "start": 117627522, "end": 117627770 }, { "start": 117642438, "end": 117642593 }, { "start": 117652842, "end": 117652931 }, { "start": 117664688, "end": 117664860 }, { "start": 117665459, "end": 117665564 }, { "start": 117666908, "end": 117668665 } ], "cds": { "start": 117480095, "end": 117667108 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 117105838, "end": 117356025, "strand": "+" }, "neighbourhood": { "release": "116", "start": 117074345, "end": 118074344, "genes": [ { "symbol": "ST7", "ensemblId": "ENSG00000004866", "biotype": "protein_coding", "start": 116952980, "end": 117230812, "strand": "+", "slug": "st7" }, { "symbol": "", "ensemblId": "ENSG00000288635", "biotype": "protein_coding", "start": 116954391, "end": 117119719, "strand": "+" }, { "symbol": "WNT2", "ensemblId": "ENSG00000105989", "biotype": "protein_coding", "start": 117273513, "end": 117323392, "strand": "-", "slug": "wnt2" }, { "symbol": "ASZ1", "ensemblId": "ENSG00000154438", "biotype": "protein_coding", "start": 117363222, "end": 117428123, "strand": "-", "slug": "asz1" }, { "symbol": "CTTNBP2", "ensemblId": "ENSG00000077063", "biotype": "protein_coding", "start": 117710651, "end": 117874139, "strand": "-", "slug": "cttnbp2" } ], "truncated": false }, "reports": [ { "slug": "cystic-fibrosis", "name": "Cystisk fibrose", "diseases": [ { "mondoId": "MONDO:0009061", "name": "Cystisk fibrose", "genes": 1, "inheritance": "autosomal-recessive", "description": "Cystisk fibrose (CF) er en genetisk lidelse preget av produksjon av svette med høyt saltinnhold og slimsekresjoner med unormal viskositet.", "management": "CFTR-modulatorbehandlinger (ivakaftor, lumakaftor, elexakaftor, tezakaftor), luftveisrensing, erstatning av bukspyttkjertelenzymer, antibiotikabehandling, ernæringsbehandling", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "Myriad Women's Health", "Natera" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/cystic-fibrosis" }, { "slug": "male-infertility", "name": "Mannlig infertilitet", "diseases": [ { "mondoId": "MONDO:0018801", "name": "Medfødt bilateral agenesi av vas deferens (CBAVD)", "genes": 1, "inheritance": null, "description": "Fravær av begge vasa deferentia som gir obstruktiv azoospermi, oftest på grunn av varianter i CFTR og av og til på grunn av X-bundne varianter i ADGRG2.", "management": "Det er vanligvis mulig å hente ut sædceller og bruke assistert reproduksjon, og CFTR-resultatene brukes til å undersøke bærerstatus hos partneren.", "evidence": { "gencc": [ "Natera" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/no/conditions/male-infertility" } ], "pharmacogenomics": [ { "slug": "pharmacogenomics", "title": "Respons på ivakaftor", "summary": "CFTR koder for kanalen for klorid som er defekt ved cystisk fibrose. Ivakaftor hjelper noen defekte kanaler å åpne seg, så det virker bare for personer hvis cystisk fibrose skyldes spesifikke responsive varianter.", "actionable": [ "Bare relevant hvis du har cystisk fibrose – å bære en av disse variantene uten en annen sykdomsfremkallende CFTR-variant gir ikke cystisk fibrose.", "Ditt CF-team bekrefter om du er aktuell for ivakaftor og nyere CFTR-modulatorer med klinisk CFTR-testing." ], "caveat": "Kaller de ivakaftor-responsive variantene fra CPICs retningslinje; den langt lengre listen over varianter som nå er godkjent for ivakaftor og kombinasjonsmodulatorer (for eksempel elexacaftor/tezacaftor/ivakaftor), vurderes ikke.", "alleles": [ { "name": "S1255P", "function": "ivacaftor responsive", "reference": false }, { "name": "S549N", "function": "ivacaftor responsive", "reference": false }, { "name": "R117H", "function": "ivacaftor responsive", "reference": false }, { "name": "S1251N", "function": "ivacaftor responsive", "reference": false }, { "name": "G551D", "function": "ivacaftor responsive", "reference": false }, { "name": "G551S", "function": "ivacaftor responsive", "reference": false }, { "name": "G1244E", "function": "ivacaftor responsive", "reference": false }, { "name": "G1349D", "function": "ivacaftor responsive", "reference": false }, { "name": "ivacaftor non-responsive CFTR sequence", "function": "ivacaftor non-responsive", "reference": true }, { "name": "G178R", "function": "ivacaftor responsive", "reference": false } ], "phenotypes": [ "ivacaftor non-responsive in CF patients", "ivacaftor responsive in CF patients" ], "drugs": [ { "name": "ivacaftor", "cpicLevel": "A", "clinpgxLevel": "1A", "pgxTesting": "Testing Required", "guideline": { "name": "CFTR and Ivacaftor", "url": "https://www.clinpgx.org/guideline/PA166251449" } }, { "name": "ataluren", "cpicLevel": "C", "clinpgxLevel": "3" } ], "name": "Farmakogenomikk", "url": "https://dantelabs.com/no/whole-genome-sequencing/pharmacogenomics" } ], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-thrombosis", "name": "Abnormal blood clot", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/abnormal-thrombosis" }, { "slug": "abnormal-spermatogenesis", "name": "Abnormal sperm development", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-spermatogenesis" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "abnormal-phalangeal-joint-morphology-of-the-hand", "name": "Abnormality of the small joints of the hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-phalangeal-joint-morphology-of-the-hand" }, { "slug": "abnormal-renal-morphology", "name": "Abnormally shaped kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-renal-morphology" }, { "slug": "unilateral-renal-agenesis", "name": "Absent kidney on one side", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unilateral-renal-agenesis" }, { "slug": "azoospermia", "name": "Absent sperm in semen", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/azoospermia" }, { "slug": "absent-vas-deferens", "name": "Absent vas deferens", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/absent-vas-deferens" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "acute-infectious-pneumonia", "name": "Acute infectious pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-infectious-pneumonia" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "atopic-dermatitis", "name": "Baby eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atopic-dermatitis" }, { "slug": "halitosis", "name": "Bad breath", "systems": [ "abnormality-of-head-or-neck", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/halitosis" }, { "slug": "biliary-cirrhosis", "name": "Biliary cirrhosis", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/biliary-cirrhosis" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "chronic-bronchitis", "name": "Chronic bronchitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/chronic-bronchitis" }, { "slug": "chronic-lung-disease", "name": "Chronic lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/chronic-lung-disease" }, { "slug": "chronic-sinusitis", "name": "Chronic sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-sinusitis" }, { "slug": "clubbing-of-fingers", "name": "Clubbing of fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clubbing-of-fingers" }, { "slug": "clubbing", "name": "Clubbing of fingers and toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/clubbing" }, { "slug": "pneumothorax", "name": "Collapsed lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pneumothorax" }, { "slug": "cor-pulmonale", "name": "Cor pulmonale", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cor-pulmonale" }, { "slug": "hemoptysis", "name": "Coughing up blood", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemoptysis" }, { "slug": "crackles", "name": "Crackles", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/crackles" }, { "slug": "decreased-body-mass-index", "name": "Decreased body mass index", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-body-mass-index" }, { "slug": "decreased-forced-expiratory-flow-25-75", "name": "Decreased forced expiratory flow 25-75%", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-forced-expiratory-flow-25-75" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "elevated-sweat-chloride", "name": "Elevated sweat chloride", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-sweat-chloride" }, { "slug": "hypercalciuria", "name": "Elevated urine calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypercalciuria" }, { "slug": "emphysema", "name": "Emphysema", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emphysema" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "excessive-skin-wrinkling-on-dorsum-of-hands-and-fingers", "name": "Excessive skin wrinkling on back of hands and fingers", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/excessive-skin-wrinkling-on-dorsum-of-hands-and-fingers" }, { "slug": "palmoplantar-hyperhidrosis", "name": "Excessive sweating of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmoplantar-hyperhidrosis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "steatorrhea", "name": "Fat in feces", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/steatorrhea" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "pleural-effusion", "name": "Fluid around lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pleural-effusion" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema" }, { "slug": "abnormal-respiratory-system-physiology", "name": "Functional respiratory abnormality", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-respiratory-system-physiology" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "myocardial-infarction", "name": "Heart attack", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myocardial-infarction" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "hyperpolarized-transepithelial-nasal-potential-difference", "name": "Hyperpolarized transepithelial nasal potential difference", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/hyperpolarized-transepithelial-nasal-potential-difference" }, { "slug": "ileus", "name": "Ileus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ileus" }, { "slug": "exocrine-pancreatic-insufficiency", "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency" }, { "slug": "increased-circulating-gonadotropin-level", "name": "Increased circulating gonadotropin level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level" }, { "slug": "palmar-pruritus", "name": "Itchy palm", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmar-pruritus" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "oligozoospermia", "name": "Low sperm count", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligozoospermia" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "male-infertility", "name": "Male infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/male-infertility" }, { "slug": "meconium-ileus", "name": "Meconium ileus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meconium-ileus" }, { "slug": "nasal-polyposis", "name": "Nasal polyposis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/nasal-polyposis" }, { "slug": "non-obstructive-azoospermia", "name": "Non-obstructive azoospermia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/non-obstructive-azoospermia" }, { "slug": "nontuberculous-mycobacterial-pulmonary-infection", "name": "Nontuberculous mycobacterial pulmonary infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/nontuberculous-mycobacterial-pulmonary-infection" }, { "slug": "obstructive-azoospermia", "name": "Obstructive azoospermia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/obstructive-azoospermia" }, { "slug": "airway-obstruction", "name": "Obstructive lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/airway-obstruction" }, { "slug": "orthokeratotic-hyperkeratosis", "name": "Orthokeratotic hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthokeratotic-hyperkeratosis" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "pancreatic-calcification", "name": "Pancreatic calcification", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pancreatic-calcification" }, { "slug": "pancreatitis", "name": "Pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatitis" }, { "slug": "pancreatic-pseudocyst", "name": "Pancreatic pseudocyst", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/pancreatic-pseudocyst" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "rectal-prolapse", "name": "Rectum protrudes through anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rectal-prolapse" }, { "slug": "recurrent-aspergillus-infection", "name": "Recurrent Aspergillus infection", 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