title: Immunodeficiency associated with a nonsense mutation of IKBKB.
abstract: We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated with homozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory insufficiency and Pneumocystis jirovecii pneumonia which was successfully treated. At nine months, iatrogenic systemic infection with Mycobacterium bovis was found and eventually led to her death at age 14 months. Laboratory findings were reminiscent of hyper-IgM syndrome, but genetic testing gave no explanation before whole exome sequencing revealed a novel mutation abrogating signaling through the canonical NF-κB pathway.
authors.affiliation: Department of Clinical Immunology, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense C, Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Nielsen
authors.forename: Marianne A
authors.initials: MA
authors.lastname: Jakobsen
authors.forename: Martin Jakob
authors.initials: MJ
authors.lastname: Larsen
authors.forename: Amanda C
authors.initials: AC
authors.lastname: Müller
authors.forename: Soren
authors.initials: S
authors.lastname: Hansen
authors.forename: Søren T
authors.initials: ST
authors.lastname: Lillevang
authors.forename: Niels
authors.initials: N
authors.lastname: Fisker
authors.forename: Torben
authors.initials: T
authors.lastname: Barington
mesh_terms: D018389:Codon, Nonsense; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D007223:Infant; D009163:Mycobacterium bovis; D045363:Pneumocystis carinii; D011020:Pneumonia, Pneumocystis / Q000150:complications; D012131:Respiratory Insufficiency / Q000150:complications; D014376:Tuberculosis / Q000150:complications / Q000473:pathology; D014611:Vaccination / Q000009:adverse effects
chemical_list: D018389:Codon, Nonsense; D051550:I-kappa B Kinase