Frontiers in Pediatrics | |
Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB | |
article | |
Zobaida Alsum1  Mofareh S. AlZahrani2  Hamoud Al-Mousa3  Nouf Alkhamis1  Abdulkareem A. Alsalemi4  Hanan E. Shamseldin5  Fowzan S. Alkuraya6  Abdullah A. Alangari8  | |
[1] Department of Pediatrics, King Saud University Medical City;Royal Commission Medical Center;Department of Pediatrics, King Faisal Specialist Hospital and Research Center;Maternity and Children's Hospital, Ministry of Health;Department of Genetics, King Faisal Specialist Hospital and Research Center;Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University;Saudi Human Genome Program, King Abdulaziz City for Science and Technology;Department of Pediatrics, College of Medicine, King Saud University | |
关键词: inhibitor of kappa kinase beta/inhibitor of kappa kinase 2; IKBKB; combined immunodeficiency; hematopoietic stem cell transplant; delayed separation of the umbilical cord; | |
DOI : 10.3389/fped.2020.00009 | |
学科分类:社会科学、人文和艺术(综合) | |
来源: Frontiers | |
【 摘 要 】
Background: Inhibitor of kappa kinase 2 (IKK2) deficiency is a recently described combined immunodeficiency. It undermines the nuclear factor-kappa B (NF-κB) activation pathway. Methods: The clinical and immunological data of four patients diagnosed with combined immunodeficiency (CID) from two related Saudi families were collected. Autozygosity mapping of all available members and whole exome sequencing of the index case were performed to define the genetic etiology. Results: The patients had early onset (2–4 months of age) severe infections caused by viruses, bacteria, mycobacteria, and fungi. They all had hypogammaglobulinemia and low absolute lymphocyte count. Their lymphocytes failed to respond to PHA mitogen stimulation. A novel homozygous non-sense mutation in the IKBKB gene, c.850C>T (p. Arg284*) was identified in the index patient and segregated with the disease in the rest of the family. He underwent hematopoietic stem cell transplantation (HSCT) from a fully matched sibling with no conditioning. The other three patients succumbed to their disease. Interestingly, all patients had delayed umbilical cord separation. Conclusion: IKK2 deficiency causes CID with high mortality. Immune reconstitution with HSCT should be considered as early as possible. Delayed umbilical cord separation in CID patients may be a clue to IKK2 deficiency.
【 授权许可】
CC BY
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