| Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. | Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V., Free PMC Article | 12/24/2022 |
| Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. | Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, Li Q, Marzollo A, Mescoli C, Nambu R, Pan J, Perilongo G, Warner N, Zhang S, Kotlarz D, Klein C, Snapper SB, Walters TD, Leon A, Griffiths AM, Cananzi M, Muise AM., Free PMC Article | 12/18/2021 |
| RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma. | RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma.
Uchida Y, Yoshimitsu M, Hachiman M, Kusano S, Arima N, Shima K, Hayashida M, Kamada Y, Nakamura D, Arai A, Tanaka Y, Hara H, Ishitsuka K. | 07/31/2021 |
| A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors. | A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors.
Yonkof JR, Gupta A, Rueda CM, Mangray S, Prince BT, Rangarajan HG, Alshahrani M, Varga E, Cripe TP, Abraham RS., Free PMC Article | 05/8/2021 |
| Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease. | Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease.
Lauterborn JC, Cox CD, Chan SW, Vanderklish PW, Lynch G, Gall CM., Free PMC Article | 01/16/2021 |
| Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation. | Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation.
Shamriz O, Simon AJ, Lev A, Megged O, Ledder O, Picard E, Joseph L, Molho-Pessach V, Tal Y, Millman P, Slae M, Somech R, Toker O, Berger M., Free PMC Article | 10/24/2020 |
| this study reports three patients with a recently described combined immunodeficiency disorder, CARMIL2-deficiency, bearing a novel homozygous mutation on splice-acceptor site region on CARMIL2-gene | A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.
Atschekzei F, Jacobs R, Wetzke M, Sogkas G, Schröder C, Ahrenstorf G, Dhingra A, Ott H, Baumann U, Schmidt RE. | 07/11/2020 |
| This case provides evidence that CARMIL2 should be a candidate gene when diagnosing children with very early onset inflammatory and eosinophilic gastrointestinal disorders, even when signs of immunodeficiency are not observed. | A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD, Regeneron Genetics Center, Shuldiner AR, Zohar Y, Paperna T, Snapper SB, Shouval DS, Baris Feldman H. | 06/20/2020 |
| The study highlights that human CARMIL2 deficiency can manifest with inflammatory bowel diseases (IBD)-like symptoms. | CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D., Free PMC Article | 05/30/2020 |
| These cases showed that CARMIL2-deficiency is an autosomal recessive primary immunodeficiency disorder associated with defective CD28-mediated TCR co-signalling and impaired cytoskeletal dynamics. | A human immunodeficiency syndrome caused by mutations in CARMIL2.
Schober T, Magg T, Laschinger M, Rohlfs M, Linhares ND, Puchalka J, Weisser T, Fehlner K, Mautner J, Walz C, Hussein K, Jaeger G, Kammer B, Schmid I, Bahia M, Pena SD, Behrends U, Belohradsky BH, Klein C, Hauck F., Free PMC Article | 11/17/2018 |
| RLTPR (p.Q575E) increases binding of RLTPR to downstream components of the NF-kappaB signaling pathway, selectively upregulates the NF-kappaB pathway in activated T cells. | Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E).
Park J, Yang J, Wenzel AT, Ramachandran A, Lee WJ, Daniels JC, Kim J, Martinez-Escala E, Amankulor N, Pro B, Guitart J, Mendillo ML, Savas JN, Boggon TJ, Choi J., Free PMC Article | 09/30/2017 |
| Human RLTPR deficiency is a Combined immunodeficiency affecting at least the CD28-responsive pathway in T cells and the BCR-responsive pathway in B cells. | Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL., Free PMC Article | 08/5/2017 |
| the scaffolding role of RLTPR predominates during CD28 co-stimulation and underpins the similar function of RLTPR in human and mouse T cells. | The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells.
Roncagalli R, Cucchetti M, Jarmuzynski N, Grégoire C, Bergot E, Audebert S, Baudelet E, Menoita MG, Joachim A, Durand S, Suchanek M, Fiore F, Zhang L, Liang Y, Camoin L, Malissen M, Malissen B., Free PMC Article | 08/5/2017 |
| On the basis of these results, we propose a model in which dynamic vimentin filaments target CARMIL2 to critical membrane-associated locations, where CARMIL2 regulates CP, and thus actin assembly, to create cell protrusions | CARMIL2 is a novel molecular connection between vimentin and actin essential for cell migration and invadopodia formation.
Lanier MH, Kim T, Cooper JA., Free PMC Article | 10/1/2016 |
| Data suggest that CARMIL2 displays two localization patterns in cells; one coincides with vimentin intermediate filaments, and the other coincides with cell membrane at leading edge of migrating cells. | Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2.
Lanier MH, McConnell P, Cooper JA., Free PMC Article | 06/4/2016 |