Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing
Maksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, Erasmia Boutakoglou, Irene Mavroudi, Malte Ritter, Marc Sturm, Julia Skokowa, Helen A. Papadaki · 2024
Read Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing by Maksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, Erasmia Boutakoglou, Irene Mavroudi, Malte Ritter, Marc Sturm, Julia Skokowa, Helen A. Papadaki (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11609805.txt.
Description
Maksim Klimiankou and co-authors find a new gene cause of congenital neutropenia, a birth condition with very low infection-fighting white cells, in a 2024 paper. About a fifth of patients lack a known gene cause. Three families with unexplained cases had full exome sequencing after standard gene tests came back negative.
The search flagged variants in a receptor gene not previously tied to the condition. One index patient, found at age thirty, had severe cell shortage and frequent skin and airway infections, first misread as autoimmunity. Family checks showed milder shortage in the mother and two siblings. Standard growth factor treatment worked well at low doses. The authors add the gene to the diagnostic list for unexplained cases.
Catalog record
| CREATOR | Maksim Klimiankou, Ivan Tesakov, Grigorios Tsaknakis, Erasmia Boutakoglou, Irene Mavroudi, Malte Ritter, Marc Sturm, Julia Skokowa, Helen A. Papadaki |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 14 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |