Immunodeficiency due to defect in MAPBP-interacting protein
| Disorder | |
|---|---|
| OMIM #: | #610798 (Click to access OMIM database) |
| Disorder: | Immunodeficiency due to defect in MAPBP-interacting protein |
| Also known as: | |
| Clinical | |
| Phenotype: | short stature, hypopigmented skin, coarse features, respiratory infections, low peripheral neutrophil counts, immune cell count abnormalities |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | LAMTOR2 |
| Base Change: | c.*23C>A |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| 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 |
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