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OMIA:002835-9615 : Immunodeficiency, CARMIL2-related in Canis lupus familiaris (dog)

Categories: Respiratory system phene , Immune system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 610859 (gene) , 618131 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2024

Species-specific description: Coffey et al. (2024) "report the discovery of a CARMIL2 nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP [Pneumocystis pneumonia] (n = 2) or refractory Bordetella pneumonia (n = 1). ... Deleterious CARMIL2 variants have recently been reported in human patients with PCP and other recurrent pneumonias. In addition to opportunistic respiratory infection, the affected dogs also exhibited other clinical manifestations of CARMIL2 deficiencies that have been reported in humans, including early-onset gastrointestinal disease, allergic skin disease, mucocutaneous lesions, abscesses, autoimmune disorders, and gastrointestinal parasitism."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Cavalier King Charles Spaniel (Dog) (VBO_0200309).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CARMIL2 capping protein regulator and myosin 1 linker 2 Canis lupus familiaris 5 NC_051809.1 (82240296..82227854) CARMIL2 Homologene, Ensembl , NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1674 Cavalier King Charles Spaniel (Dog) Immunodeficiency, CARMIL2-related CARMIL2 missense Naturally occurring variant CanFam3.1 5 g.81801920G>A c.871C>T p.(R291*) NC_006587.3; XM_022419456.1; XP_022275164.1 rs3330142729 2024 38535207
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002835-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024 Coffey, E.L., Ma, L., Cissé, O.H., Kovacs, J.A., Minor, K.M., Sukura, A., Danesi, P., Friedenberg, S.G., Cullen, J.N., Weissenbacher-Lang, C., Nadeau, J.C., Graham, A.M., Granick, M.N., Branson, N.K., Branson, K.C., Blasi, B., Jacobs, C.M., Furrow, E. :
A novel CARMIL2 immunodeficiency identified in a subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella pneumonia. J Fungi (Basel) 10:198, 2024. Pubmed reference: 38535207. DOI: 10.3390/jof10030198.

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  • Created by Imke Tammen2 on 07 Apr 2024