title: Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.
abstract: We report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.
authors.affiliation: Department of Immunology and Microbiology, Gran Canaria Dr. Negrín University Hospital, Seville, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Cardenes
authors.forename: Horst
authors.initials: H
authors.lastname: von Bernuth
authors.forename: Ayoze
authors.initials: A
authors.lastname: García-Saavedra
authors.forename: Esther
authors.initials: E
authors.lastname: Santiago
authors.forename: Anne
authors.initials: A
authors.lastname: Puel
authors.forename: Cheng-Lung
authors.initials: CL
authors.lastname: Ku
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Emile
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Elena
authors.initials: E
authors.lastname: Colino
authors.forename: Ana
authors.initials: A
authors.lastname: Bordes
authors.forename: Antonio
authors.initials: A
authors.lastname: Garfia
authors.forename: Carlos
authors.initials: C
authors.lastname: Rodríguez-Gallego
mesh_terms: D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005808:Genes, Recessive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000382:microbiology; D007223:Infant; D053592:Interleukin-1 Receptor-Associated Kinases; D047908:Intracellular Signaling Peptides and Proteins / Q000172:deficiency* / Q000235:genetics*; D010375:Pedigree; D011008:Pneumococcal Infections / Q000209:etiology; D017346:Protein Serine-Threonine Kinases / Q000172:deficiency* / Q000235:genetics*; D012008:Recurrence; D013030:Spain; D013203:Staphylococcal Infections / Q000209:etiology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D053592:Interleukin-1 Receptor-Associated Kinases; D017346:Protein Serine-Threonine Kinases