A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4–Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma

• Published in: Journal of investigational allergology & clinical immunology Vol. 28; no. 4; p. 261
• Main Authors: Gokturk, B, Casanova, JL, Picard, C, Ayvaz, D Cagdas, Erman, B, Tezcan, I, Ozdemir, H, Ozel, A, Reisli, I
• Format: Journal Article
• Language: English
• Published: Barcelona Esmon Publicidad 01-01-2018
• Subjects: Adolescents; Age; Children; Hereditary diseases; Interleukin 1; Invasiveness; IRAK protein; Lymphocytes B; Lymphoma; Meningitis; Mutation; Patients; Salmonellosis; Seizures; Vomiting
• ISSN: 1018-9068; 1698-0808

Interleukin-1 receptor–associated kinase-4 (IRAK-4) deficiency (OMIM 607676) is an autosomal recessive disorder. Patients with IRAK-4 deficiency have been prone to systemic and peripheral pyogenic bacterial diseases. More than 50 IRAK-4–deficient patients have been reported worldwide. Patient 1 was a 4-month-old girl born to consanguineous parents admitted with vomiting and tonic-clonic seizures. She was diagnosed with Pseudomonas aeruginosa meningitis. Patient 2 was the brother of patient 1 (age 14 years). He was diagnosed after family screening and found to have the same homozygous mutation. The prognosis of IRAK-4 deficiency is poor in early childhood, with a mortality rate of 38%, although it improves substantially in adolescence. No deaths were recorded in patients after the age of 8 years, and no invasive infection after the age of 14 years. Improvement in symptoms with age may result from the reconstitution of adaptive antigen-specific T- and B-lymphocyte responses.