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GenomicsCARMIL2
Exome data for CARMIL2 study submitted by Alazami et al.
PRJEB24299 | ENA
TranscriptomicsGenotyping data for seven patients from three unrelated, consanguineous multiplex families that presented with combined immunodeficiency, and were found to harbour mutations in CARMIL2
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 mi...
ORGANISM(S): Homo sapiens 
2018-01-25 | E-MTAB-6440 | biostudies-arrayexpress
UnknownHuman CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Not available
S-EPMC9754768 | biostudies-literature
UnknownA Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.
Not available
S-EPMC7314954 | biostudies-literature
UnknownNovel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Not available
S-EPMC7960730 | biostudies-literature
UnknownCell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2.
Not available
S-EPMC4714192 | biostudies-literature
UnknownCARMIL2-related immunodeficiency manifesting with photosensitivity.
Not available
S-EPMC7599087 | biostudies-literature
UnknownCARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Not available
S-EPMC6799948 | biostudies-literature
UnknownA human immunodeficiency syndrome caused by mutations in CARMIL2.
Not available
S-EPMC5473639 | biostudies-literature
UnknownEvolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Not available
S-EPMC9976932 | biostudies-literature
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