| RETICULAR DYSGENESIS | |
| SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA; DE VAAL DISEASE | |
|
267500
OMIM = Online Mendelian Inheritance of Men | |
|
33355 | |
| Adenylate kinase 2, mitochondrial | |
rare autosomal recessive mutation in the mitochondrial adenylate kinase-2 gen | |
| Laboratory findings | |
| Symptoms | agranulocytosis early death hearing defect, deafness immunodeficiency leukopenia lymphopenia onset, infancy onset, neonatal sepsis |