Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation)

Chest

Volumn 150, Issue 3, 2016, Pages e65-e71

  Picard, Cécile ^a,b   Thouvenin, Guillaume ^d,e   Kannengiesser, Caroline ^f   Dubus, Jean Christophe ⁱ   Jeremiah, Nadia ^g   Rieux Laucat, Frédéric ^g   Crestani, Bruno ^h   Belot, Alexandre ^b,c   Thivolet Béjui, Françoise ^a   Secq, Véronique ⁱ   Ménard, Christelle ^d   Reynaud Gaubert, Martine ^j   Reix, Philippe ^c  

^a UNIVERSITÉ LYON 1   (France)

^b CENTRE INTERNATIONAL DE RECHERCHE EN INFECTIOLOGIE   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e HÔPITAL SAINT ANTOINE   (France)

^f BICHAT HOSPITAL   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h Service de Pneumologie A Département hospitalo universitaire FIRE   (France)

ⁱ TIMONE HOSPITAL   (France)

^j HÔPITAL NORD   (France)

more..

Author keywords

autoinflammatory disease; pulmonary fibrosis; TMEM173; vasculopathy

Indexed keywords

ANTINUCLEAR ANTIBODY; C REACTIVE PROTEIN; CORTICOSTEROID; CRYOGLOBULIN; HYDROXYCHLOROQUINE; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; MEMBRANE PROTEIN; NEUTROPHIL CYTOPLASMIC ANTIBODY; RHEUMATOID FACTOR; TRANSMEMBRANE PROTEIN 173; UNCLASSIFIED DRUG; MPYS PROTEIN, HUMAN;

ACUTE GRAFT REJECTION; ADULT; ARTHRALGIA; ARTICLE; AUTOINFLAMMATORY DISEASE; CASE REPORT; CHILBLAIN; CHILD; CHOLESTATIC HEPATITIS; COMPUTER ASSISTED TOMOGRAPHY; COR PULMONALE; COUGHING; CRACKLE; CRYOGLOBULINEMIA; DISEASE ASSOCIATION; DISEASE EXACERBATION; DYSPHAGIA; DYSPNEA; EMPHYSEMA; ERYTHEMA; ERYTHROCYTE SEDIMENTATION RATE; FAILURE TO THRIVE; FEMALE; GASTROESOPHAGEAL REFLUX; GENETIC ANALYSIS; HEMOPHAGOCYTIC SYNDROME; HIGH RESOLUTION COMPUTED TOMOGRAPHY; HISTOLOGY; HUMAN; HUMAN CELL; HYPERGAMMAGLOBULINEMIA; INTERFERONOPATHY; INTERSTITIAL LUNG DISEASE; LUNG ALVEOLITIS; LUNG BIOPSY; LUNG FIBROSIS; LUNG FUNCTION TEST; LUNG INFILTRATE; LUNG LAVAGE; LUNG NODULE; LUNG TRANSPLANTATION; LYMPHADENOPATHY; MALE; MULTIPLE ORGAN FAILURE; NAIL DYSTROPHY; NEUTROPHILIC ALVEOLITIS; OLIGOCLONAL HYPERGAMMAGLOBULINEMIA; OXYGEN THERAPY; PANCYTOPENIA; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; QUALITY OF LIFE; SCHOOL CHILD; SEQUENCE ANALYSIS; TELANGIECTASIA; THORAX MALFORMATION; THROMBOTIC THROMBOCYTOPENIC PURPURA; TYPE 3 CRYOGLOBULINEMIA; VIRAL RESPIRATORY TRACT INFECTION; WHOLE EXOME SEQUENCING; YOUNG ADULT; AUTOIMMUNE DISEASE; DIAGNOSTIC IMAGING; FATALITY; GENETICS; IMMUNOLOGY; INFANT; INFLAMMATION; MUTATION; PATHOLOGY; SEVERITY OF ILLNESS INDEX; X-RAY COMPUTED TOMOGRAPHY;

ADULT; AUTOIMMUNE DISEASES; CHILBLAINS; CHILD; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFLAMMATION; MALE; MEMBRANE PROTEINS; MUTATION; PULMONARY FIBROSIS; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84995576399     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1016/j.chest.2016.02.682     Document Type: Article

References (8)

1. 1 Liu, Y., Jesus, A.A., Marrero, B., et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med 371:6 (2014), 507–518.
2. 2 Crow, Y.J., Casanova, J.-L., STING-associated vasculopathy with onset in infancy—a new interferonopathy. N Engl J Med 371:6 (2014), 568–571.
3. 3 Rice, G.I., Forte, G.M.A., Szynkiewicz, M., et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol 12:12 (2013), 1159–1169.
4. 4 Picard, C., Mathieu, A.-L., Hasan, U., et al. Inherited anomalies of innate immune receptors in pediatric-onset inflammatory diseases. Autoimmun Rev 14:12 (2015), 1147–1153.
5. 5 Jeremiah, N., Neven, B., Gentili, M., et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest 124:12 (2014), 5516–5520.
6. 6 Devine, M.S., Garcia, C.K., Genetic interstitial lung disease. Clin Chest Med 33:1 (2012), 95–110.
7. 7 Silhan, L.L., Shah, P.D., Chambers, D.C., et al. Lung transplantation in telomerase mutation carriers with pulmonary fibrosis. Eur Respir J 44:1 (2014), 178–187.
8. 8 Borie, R., Kannengiesser, C., Hirschi, S., et al., Groupe d'Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM“O”P). Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. J Heart Lung Transplant 34:4 (2015), 538–546.