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Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ.
Cabral-Marques O, Ramos RN, Schimke LF, Khan TA, Amaral EP, Barbosa Bomfim CC, Junior OR, França TT, Arslanian C, Carola Correia Lima JD, Weber CW, Ferreira JF, Tavares FS, Sun J, D'Imperio Lima MR, Seelaender M, Garcia Calich VL, Marzagão Barbuto JA, Costa-Carvalho BT, Riemekasten G, Seminario G, Bezrodnik L, Notarangelo L, Torgerson TR, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. Among authors: notarangelo l. J Allergy Clin Immunol. 2017 Mar;139(3):900-912.e7. doi: 10.1016/j.jaci.2016.07.018. Epub 2016 Aug 20. J Allergy Clin Immunol. 2017. PMID: 27554817
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants. Griffith LM, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139498 Free PMC article.
Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene.
Mooster JL, Cancrini C, Simonetti A, Rossi P, Di Matteo G, Romiti ML, Di Cesare S, Notarangelo L, Geha RS, McDonald DR. Mooster JL, et al. Among authors: notarangelo l. J Allergy Clin Immunol. 2010 Jul;126(1):127-32.e7. doi: 10.1016/j.jaci.2010.04.026. Epub 2010 Jun 12. J Allergy Clin Immunol. 2010. PMID: 20542322 Free PMC article.
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants. Griffith LM, et al. J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12. doi: 10.1016/j.jaci.2009.10.022. J Allergy Clin Immunol. 2009. PMID: 20004776 Free PMC article.
Immunodeficiencies.
Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert M, Gathmann B, Kindle G, Knight AK, Ochs HD, Sullivan K, Franco JL. Ballow M, et al. Among authors: notarangelo l. Clin Exp Immunol. 2009 Dec;158 Suppl 1(Suppl 1):14-22. doi: 10.1111/j.1365-2249.2009.04023.x. Clin Exp Immunol. 2009. PMID: 19883420 Free PMC article. Review.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study … See abstract for full author list ➔ Asano T, et al. Among authors: notarangelo ld. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 Free PMC article.
Josiah F. Wedgwood (1950-2009).
Diamond B, Cunningham-Rundles C, Fischer A, Geha R, Notarangelo L, Ochs H, Rotrosen D, Terhorst C. Diamond B, et al. Among authors: notarangelo l. J Allergy Clin Immunol. 2010 Feb;125(2):506. doi: 10.1016/j.jaci.2009.12.932. Epub 2009 Dec 29. J Allergy Clin Immunol. 2010. PMID: 20042229 No abstract available.
The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018).
Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Logan B, Griffith LM, Kohn DB, Pai SY, Notarangelo L, Shearer W, Prockop S, Kapoor N, Heimall J, Chaudhury S, Shyr D, Chandra S, Cuvelier G, Moore T, Shenoy S, Goldman F, Smith AR, Sunkersett G, Vander Lugt M, Caywood E, Quigg T, Torgerson T, Chandrakasan S, Craddock J, Dávila Saldaña BJ, Gillio A, Shereck E, Aquino V, DeSantes K, Knutsen A, Thakar M, Yu L, Puck JM. Dvorak CC, et al. Among authors: notarangelo l. J Allergy Clin Immunol. 2019 Jan;143(1):405-407. doi: 10.1016/j.jaci.2018.08.027. Epub 2018 Sep 5. J Allergy Clin Immunol. 2019. PMID: 30193840 Free PMC article. Clinical Trial.
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Wang HY, Gopalan V, Aksentijevich I, Yeager M, Ma CA, Mohamoud YA, Quinones M, Matthews C, Boland J, Niemela JE, Torgerson TR, Giliani S, Uzel G, Orange JS, Shapiro R, Notarangelo L, Ochs HD, Fleisher T, Kastner D, Chanock SJ, Jain A. Wang HY, et al. Among authors: notarangelo l. Hum Mutat. 2010 Sep;31(9):1080-8. doi: 10.1002/humu.21322. Hum Mutat. 2010. PMID: 20652909 Free PMC article.
Primary immunodeficiencies: a rapidly evolving story.
Parvaneh N, Casanova JL, Notarangelo LD, Conley ME. Parvaneh N, et al. J Allergy Clin Immunol. 2013 Feb;131(2):314-23. doi: 10.1016/j.jaci.2012.11.051. J Allergy Clin Immunol. 2013. PMID: 23374262 Review.
829 results