Amish, Mennonite, and Hutterite
Genetic Disorder Database

Immunodeficiency due to defect in MAPBP-interacting protein

OMIM #: #610798  (Click to access OMIM database)
Disorder: Immunodeficiency due to defect in MAPBP-interacting protein 
Also known as:  
Phenotype: short stature, hypopigmented skin, 'coarse' facies, respiratory tract infections, low peripheral neutrophil counts 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
1   Unknown / Other Mennonite  
Base Change: A mutation in the 3-prime UTR of exon 4
Amino Acid Change:
Last updated: 2018-04-23 

Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, and Klein C. (2007) A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med 13(1): 38-45.
PubMed ID: 17195838 
Langemeier J, Schrom EM, Rabner A, Radtke M, Zychlinski D, Saborowski A, Bohn G, Mandel-Gutfreund Y, Bodem J, Klein C, Bohne J. (2012) A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression. EMBO J Oct 17;31(20):4035-44.
PubMed ID: 22968171