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Page 1
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
Karanovic D, Michelow IC, Hayward AR, DeRavin SS, Delmonte OM, Grigg ME, Dobbs AK, Niemela JE, Stoddard J, Alhinai Z, Rybak N, Hernandez N, Pittaluga S, Rosenzweig SD, Uzel G, Notarangelo LD. Karanovic D, et al. Among authors: notarangelo ld. Front Immunol. 2019 Feb 14;10:77. doi: 10.3389/fimmu.2019.00077. eCollection 2019. Front Immunol. 2019. PMID: 30891027 Free PMC article. Review.
X-linked immunodeficiency with hyper-IgM (XHIM).
Notarangelo LD, Hayward AR. Notarangelo LD, et al. Clin Exp Immunol. 2000 Jun;120(3):399-405. doi: 10.1046/j.1365-2249.2000.01142.x. Clin Exp Immunol. 2000. PMID: 10844515 Free PMC article. Review. No abstract available.
Novel presentation of Omenn syndrome in association with aniridia.
Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC. Sheehan WJ, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2009 Apr;123(4):966-9. doi: 10.1016/j.jaci.2008.12.007. J Allergy Clin Immunol. 2009. PMID: 19178939 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. Among authors: notarangelo ld. 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.
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. De Ravin SS, et al. Among authors: notarangelo ld. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20. Blood. 2010. PMID: 20489056 Free PMC article.
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. Walter JE, et al. Among authors: notarangelo ld. J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14. J Exp Med. 2010. PMID: 20547827 Free PMC article.
Advances in basic and clinical immunology in 2012.
Chinen J, Notarangelo LD, Shearer WT. Chinen J, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2013 Mar;131(3):675-82. doi: 10.1016/j.jaci.2013.01.012. Epub 2013 Jan 29. J Allergy Clin Immunol. 2013. PMID: 23374612 Review.
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ. Shearer WT, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2014 Apr;133(4):1092-8. doi: 10.1016/j.jaci.2013.09.044. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290292 Free PMC article.
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD. Recher M, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2014 May;133(5):1462-5, 1465.e1-5. doi: 10.1016/j.jaci.2013.10.052. Epub 2013 Dec 24. J Allergy Clin Immunol. 2014. PMID: 24373355 No abstract available.
748 results