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Page 1
An ELF4 hypomorphic variant results in NK cell deficiency.
Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. Salinas SA, et al. Among authors: forbes satter lr. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.
Squire JD, Vazquez SN, Chan A, Smith ME, Chellapandian D, Vose L, Teppa B, Hanson IC, Chinn IK, Forbes-Satter L, Seeborg FO, Nicholas SK, Martinez CA, Allen CE, Connors TJ, Satwani P, Shtessel M, Ale H, Noroski LM, Rider NL, Milner JD, Leiding JW. Squire JD, et al. Front Immunol. 2020 Dec 9;11:581475. doi: 10.3389/fimmu.2020.581475. eCollection 2020. Front Immunol. 2020. PMID: 33362767 Free PMC article.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. Among authors: forbes satter lr. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
Pelham SJ, Caldirola MS, Avery DT, Mackie J, Rao G, Gothe F, Peters TJ, Guerin A, Neumann D, Vokurkova D, Hwa V, Zhang W, Lyu SC, Chang I, Manohar M, Nadeau KC, Gaillard MI, Bezrodnik L, Iotova V, Zwirner NW, Gutierrez M, Al-Herz W, Goodnow CC, Vargas-Hernández A, Forbes Satter LR, Hambleton S, Deenick EK, Ma CS, Tangye SG. Pelham SJ, et al. Among authors: forbes satter lr. J Allergy Clin Immunol. 2022 Oct;150(4):931-946. doi: 10.1016/j.jaci.2022.04.011. Epub 2022 Apr 22. J Allergy Clin Immunol. 2022. PMID: 35469842
Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.
Cuvelier GDE, Logan BR, Prockop SE, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield MS, Ayoub PG, Moore TB, Dorsey MJ, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, Burroughs LM, Petrovic A, Chellapandian D, Heimall J, Shyr DC, Rayes A, Bednarski JJ, Chandra S, Chandrakasan S, Gillio AP, Madden L, Quigg TC, Caywood EH, Dávila Saldaña BJ, DeSantes K, Eissa H, Goldman FD, Rozmus J, Shah AJ, Vander Lugt MT, Thakar MS, Parrott RE, Martinez C, Leiding JW, Torgerson TR, Pulsipher MA, Notarangelo LD, Cowan MJ, Dvorak CC, Haddad E, Puck JM, Kohn DB. Cuvelier GDE, et al. Among authors: forbes satter lr. Blood. 2022 Aug 18;140(7):685-705. doi: 10.1182/blood.2022016196. Blood. 2022. PMID: 35671392 Free PMC article. Clinical Trial.
STAT3 gain-of-function syndrome.
Vogel TP, Leiding JW, Cooper MA, Forbes Satter LR. Vogel TP, et al. Among authors: forbes satter lr. Front Pediatr. 2023 Feb 9;10:770077. doi: 10.3389/fped.2022.770077. eCollection 2022. Front Pediatr. 2023. PMID: 36843887 Free PMC article. Review.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. Among authors: forbes satter lr. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899 Free article.
A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency.
Knight V, Heimall JR, Chong H, Nandiwada SL, Chen K, Lawrence MG, Sadighi Akha AA, Kumánovics A, Jyonouchi S, Ngo SY, Vinh DC, Hagin D, Forbes Satter LR, Marsh RA, Chiang SCC, Willrich MAV, Frazer-Abel AA, Rider NL. Knight V, et al. Among authors: forbes satter lr. J Allergy Clin Immunol Pract. 2021 Sep;9(9):3293-3307.e6. doi: 10.1016/j.jaip.2021.05.004. Epub 2021 May 24. J Allergy Clin Immunol Pract. 2021. PMID: 34033983 Review.
The earlier, the better: RAG-deficient transplants.
Forbes Satter LR, Martinez C. Forbes Satter LR, et al. Blood. 2023 Feb 16;141(7):686-687. doi: 10.1182/blood.2022018715. Blood. 2023. PMID: 36795451 Free article. No abstract available.
18 results