TY  - GEN
AU  - Ventura-Espejo, Laura
AU  - Gracia-Darder, Ines
AU  - Escribá-Bori, Silvia
AU  - Regina Amador-Gonzalez, Eva Regina
AU  - Martín-Santiago, Ana
AU  - Ramakers, Jan
PY  - 2021
DO  - 10.1186/s12969-021-00586-2
UR  - https://hdl.handle.net/20.500.12105/23151
AB  - Background: H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic sign of...
LA  - eng
PB  - BioMed Central (BMC)
KW  - H syndrome
KW  - Cardiogenic shock
KW  - Multiorgan infiltration
KW  - Digital ischemia
KW  - Paediatric intensive care unit
KW  - Interleukin-6
KW  - Tocilizumab
KW  - CT-scan
KW  - Case report
KW  - Child
KW  - Glucocorticoids
KW  - Pulse Therapy, Drug
KW  - SARS-CoV-2
KW  - Cardiomyopathy, Dilated
KW  - Humans
KW  - Antibodies, Monoclonal, Humanized
KW  - Liver Diseases
KW  - Ischemia
KW  - Lymphadenopathy
KW  - Kidney Diseases
KW  - Methylprednisolone
KW  - Multiple Organ Failure
KW  - Male
KW  - Hereditary Autoinflammatory Diseases
KW  - Tomography, X-Ray Computed
KW  - Treatment Outcome
KW  - Lung Diseases
KW  - Nucleoside Transport Proteins
KW  - Respiration, Artificial
KW  - Shock, Cardiogenic
KW  - Toes
KW  - COVID-19
KW  - Splenic Diseases
TI  - Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia
TY  - research article
ER  -