A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature

Journal of Allergy and Clinical Immunology: In Practice

Volumn 4, Issue 4, 2016, Pages 777-779

  Burns, Charlotte ^a   Cheung, Abigail ^a   Stark, Zornitza ^b   Choo, Sharon ^a   Downie, Lilian ^b   White, Sue ^b,c   Conyers, Rachel ^a   Cole, Theresa ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ALANINE AMINOTRANSFERASE; BILIRUBIN GLUCURONIDE; CEFTRIAXONE; DEXAMETHASONE; FERRITIN; FIBRINOGEN; IMMUNOGLOBULIN; INTERLEUKIN 2 RECEPTOR ALPHA; PREDNISOLONE; STAT1 PROTEIN; STAT1 PROTEIN, HUMAN;

ACTIVATED PARTIAL THROMBOPLASTIN TIME; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING DISORDER; BONE MARROW BIOPSY; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; DIARRHEA; DRUG MEGADOSE; FEVER; GRAFT VERSUS HOST REACTION; HEMOPHAGOCYTIC SYNDROME; HEPATOMEGALY; HEPATOSPLENOMEGALY; HERPES VIRUS INFECTION; HISTIOCYTOSIS; HOMOZYGOSITY; HUMAN; HUMAN HERPESVIRUS 6; HUMAN TISSUE; HYPERBILIRUBINEMIA; HYPERTRANSAMINASEMIA; IMMUNE DEFICIENCY; INFANT; INFLAMMATORY DISEASE; INTERNATIONAL NORMALIZED RATIO; IRRITABILITY; LOSS OF FUNCTION MUTATION; LYMPH NODE BIOPSY; LYMPHADENOPATHY; LYMPHOCYTOSIS; MUCOCUTANEOUS LYMPH NODE SYNDROME; MULTISYSTEM INFLAMMATORY DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; RASH; SANGER SEQUENCING; SEPSIS; SKIN BIOPSY; STAT 1 PROTEIN DEFICIENCY; THROMBOCYTOPENIA; THROMBOCYTOSIS; UNSTEADY GAIT; WHOLE EXOME SEQUENCING; GENETICS; HOMOZYGOTE; INFLAMMATION; MALE; STEM CELL TRANSPLANTATION;

HOMOZYGOTE; HUMANS; INFANT; INFLAMMATION; LOSS OF FUNCTION MUTATION; MALE; STAT1 TRANSCRIPTION FACTOR; STEM CELL TRANSPLANTATION;

EID: 84964665950     PISSN: 22132198     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaip.2016.02.015     Document Type: Article

References (8)

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