Reticular dysgenesis
| Disorder | |
|---|---|
| OMIM #: | #267500 (Click to access OMIM database) |
| Disorder: | Reticular dysgenesis |
| Also known as: | RETICULAR DYSGENESIA CONGENITAL ALEUKIA SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA DE VAAL DISEASE HEMATOPOIETIC HYPOPLASIA, GENERALIZED ALEUKOCYTOSIS |
| Clinical | |
| Phenotype: | congenital agranulocytosis, lymphopenia, lymphoid hypoplasia, thymic hypoplasia, absent cellular and humoral immunity functions |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | AK2 |
| Base Change: | T>C, at nucleotide 622 |
| Amino Acid Change: | ser 208 --> pro |
| Last updated: | 2022-11-15 |
| References |
|---|
| Ghaloul-Gonzalez L, Mohsen AW, Karunanidhi A, Seminotti B, Chong H, Madan-Khetarpal S, Sebastian J, Vockley CW, Reyes-Múgica M, Vander Lugt MT, Vockley J. (2019) Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation. Sci Rep Oct 31;9(1):15739. PubMed ID: 31673062 |
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