Reticular Dysgenesis
Pronunciation: reh-TIK-yoo-lar dis-JEE-nee-sis
The most severe form of SCID, caused by mutations in the adenylate kinase 2 (AK2) gene, characterised by absent lymphocytes, myeloid cells, and natural killer cells, along with sensorineural deafness.
Full Definition
Reticular dysgenesis is a T-B-NK-myeloid- form of SCID caused by biallelic mutations in AK2, which encodes adenylate kinase 2, a mitochondrial enzyme critical for haematopoietic progenitor survival. The result is a near-total failure of haematopoiesis affecting all lymphoid and myeloid lineages, sparing only erythrocytes and megakaryocytes. Affected neonates present with agranulocytosis, absent lymphocytes, and susceptibility to overwhelming sepsis from birth. Sensorineural hearing loss is a distinctive associated feature due to AK2 expression in the inner ear. The condition is invariably fatal without prompt haematopoietic stem cell transplantation. Editors must spell 'reticular' correctly (not 'reticulate' or 'reticulary') and not confuse this entity with reticular formation in neurological contexts.
Usage
Usage note: Spell as 'reticular dysgenesis'; 'reticulate dysgenesis' is an error. Note the associated sensorineural deafness, which is clinically and editorially significant for distinguishing this entity from other SCID forms.
In Context
- "Reticular dysgenesis was identified in a neonate with agranulocytosis, absent lymphocytes, and sensorineural hearing loss confirmed on brainstem auditory evoked response testing." — Neonatal immunology case report
- "The submitted manuscript used 'reticulate dysgenesis'; the proofreader corrected this to the standard term 'reticular dysgenesis'." — Proofreading correction log