Amish, Mennonite, and Hutterite
Genetic Disorder Database

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:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: congenital agranulocytosis, lymphopenia, lymphoid hypoplasia, thymic hypoplasia, absent cellular and humoral immunity functions 
Mutations
1   Amish  
Gene: AK2
Base Change: T>C, at nucleotide 622
Amino Acid Change: ser 208 --> pro
Last updated: 2020-02-21 

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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