Genotyping data for seven patients from three unrelated, consanguineous multiplex families that presented with combined immunodeficiency, and were found to harbour mutations in CARMIL2

ABSTRACT: Combined immunodeficiencies are a heterogeneous collection of primary immune disorders that exhibit defects in T cell development or function, along with impaired B cell activity even in light of normal B cell maturation. CARMIL2 (RLTPR) is a protein involved in cytoskeletal organization and cell migration which also plays a role in CD28 co-signaling of T cells. Mutations in this protein have recently been reported to cause a novel primary immunodeficiency disorder with variable phenotypic presentations. Here we deposit genotyping data for seven patients from three unrelated, consanguineous multiplex families that presented with dermatitis, eosophagitis and recurrent skin and chest infections with evidence of combined immunodeficiency. By using this genotyping data to perform autozygome-guided analysis, and coupling it with the results of whole exome sequencing, we uncovered two mutations not previously reported (p.R50T and p.L846Sfs) in CARMIL2.

ORGANISM(S): Homo sapiens

SUBMITTER: Anas Alazami 

PROVIDER: E-MTAB-6440 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress