Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.
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.
Cardenes
María
M
Department of Immunology and Microbiology, Gran Canaria Dr. Negrín University Hospital, Seville, Spain.
von Bernuth
Horst
H
García-Saavedra
Ayoze
A
Santiago
Esther
E
Puel
Anne
A
Ku
Cheng-Lung
CL
Emile
Jean-François
JF
Picard
Capucine
C
Casanova
Jean-Laurent
JL
Colino
Elena
E
Bordes
Ana
A
Garfia
Antonio
A
Rodríguez-Gallego
Carlos
C
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
D047908:Intracellular Signaling Peptides and Proteins; D053592:Interleukin-1 Receptor-Associated Kinases; D017346:Protein Serine-Threonine Kinases