Kathleen Sullivan to Infant
This is a "connection" page, showing publications Kathleen Sullivan has written about Infant.
Connection Strength
3.124
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Beigel K, Alsaati N, Maurer K, McDonald-McGinn D, Crowley TB, Knight M, Henrickson SE, Bassett AS, Sullivan KE. Single cell RNA-seq analysis of hematopoietic cell types in 22q11.2 deletion syndrome reveals significant changes to non-T cells. Pediatr Allergy Immunol. 2025 11; 36(11):e70237.
Score: 0.181
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Alsaati N, Penney C, Helbig I, Sullivan KE. A predictive model for identification of pediatric individuals with common variable immunodeficiency through electronic medical records. J Allergy Clin Immunol. 2025 Jul; 156(1):186-194.
Score: 0.173
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Crowley TB, Campbell IM, Liebling EJ, Lambert MP, Levitt Katz LE, Heimall J, Bailey A, McGinn DE, McDonald McGinn DM, Sullivan KE. Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases. J Allergy Clin Immunol. 2022 01; 149(1):445-450.
Score: 0.134
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Perelygina L, Buchbinder D, Dorsey MJ, Eloit M, Hauck F, Hautala T, Moshous D, Uriarte I, Deripapa E, Icenogle J, Sullivan KE. Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma. J Clin Immunol. 2019 01; 39(1):112-117.
Score: 0.113
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Sullivan KE, Crowley TB, Maurer K, Goldmuntz E, Gaynor JW, Zackai E, McDonald-McGinn D. T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease. J Allergy Clin Immunol Pract. 2018 Mar - Apr; 6(2):690-691.
Score: 0.103
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Perelygina L, Plotkin S, Russo P, Hautala T, Bonilla F, Ochs HD, Joshi A, Routes J, Patel K, Wehr C, Icenogle J, Sullivan KE. Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2016 11; 138(5):1436-1439.e11.
Score: 0.096
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Sullivan KE, Burrows E, McDonald McGinn DM. Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts. Am J Med Genet A. 2016 06; 170(6):1630-4.
Score: 0.093
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Sullivan KE, Boyle M, Nauman E, Carton T. Health care utilization by patients with common variable immune deficiency defined by International Classification of Diseases, Ninth Revision code 279.06. Ann Allergy Asthma Immunol. 2015 Sep; 115(3):248-50.
Score: 0.089
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Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C, Ochs HD, Bonilla FA, Paris K, Yel L, Sullivan KE. Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol. 2014 Aug; 34(6):627-32.
Score: 0.082
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Kersun LS, Reilly A, Coffin SE, Boyer J, Luning Prak ET, McDonald K, Hou X, Jawad AF, Sullivan KE. A prospective study of chemotherapy immunologic effects and predictors of humoral influenza vaccine responses in a pediatric oncology cohort. Influenza Other Respir Viruses. 2013 Nov; 7(6):1158-67.
Score: 0.074
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Grupp SA, Prak EL, Boyer J, McDonald KR, Shusterman S, Thompson E, Callahan C, Jawad AF, Levine BL, June CH, Sullivan KE. Adoptive transfer of autologous T cells improves T-cell repertoire diversity and long-term B-cell function in pediatric patients with neuroblastoma. Clin Cancer Res. 2012 12 15; 18(24):6732-41.
Score: 0.073
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Dinardo L, Brown V, Perez E, Bunin N, Sullivan KE. A single-center study of hematopoietic stem cell transplantation for primary immune deficiencies (PIDD). Pediatr Transplant. 2012 Feb; 16(1):63-72.
Score: 0.069
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Saltzman RW, Albin S, Russo P, Sullivan KE. Clinical conditions associated with PCP in children. Pediatr Pulmonol. 2012 May; 47(5):510-6.
Score: 0.068
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Jawad AF, Prak EL, Boyer J, McDonald-McGinn DM, Zackai E, McDonald K, Sullivan KE. A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome). J Clin Immunol. 2011 Dec; 31(6):927-35.
Score: 0.068
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Luning Prak ET, Ross J, Sutter J, Sullivan KE. Age-related trends in pediatric B-cell subsets. Pediatr Dev Pathol. 2011 Jan-Feb; 14(1):45-52.
Score: 0.063
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Conway DH, Dara J, Bagashev A, Sullivan KE. Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred. J Allergy Clin Immunol. 2010 Jul; 126(1):172-5.
Score: 0.062
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Heltzer ML, Coffin SE, Maurer K, Bagashev A, Zhang Z, Orange JS, Sullivan KE. Immune dysregulation in severe influenza. J Leukoc Biol. 2009 Jun; 85(6):1036-43.
Score: 0.058
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Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009 May; 123(5):e871-7.
Score: 0.058
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Yong PL, Russo P, Sullivan KE. Use of sirolimus in IPEX and IPEX-like children. J Clin Immunol. 2008 Sep; 28(5):581-7.
Score: 0.054
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Onigbanjo MT, Orange JS, Perez EE, Sullivan KE. Hypogammaglobulinemia in a pediatric tertiary care setting. Clin Immunol. 2007 Oct; 125(1):52-9.
Score: 0.051
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Sullivan KE. DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome. Adv Exp Med Biol. 2007; 601:37-49.
Score: 0.049
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Karpman D, Blom A, Goodship T, Sullivan KE. Anguish over angiopathy: hemolytic uremic syndrome. Clin Immunol. 2007 Feb; 122(2):135-8.
Score: 0.048
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McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, Hoyme HE, Yang SP, Adam MP, Zackai EH, Sullivan KE. Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A. 2006 Apr 15; 140(8):906-9.
Score: 0.047
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Alexander JL, D?vila Salda?a BJ, Brazauskas R, Dammalapati SG, Griffith LM, Shah AJ, Shimano KA, Ochs HD, Bleesing JJ, Ebens CL, Kapadia M, Bauchat A, Kapoor N, Oved JH, Eissa H, Lust H, Keller MD, Haines H, Chandrakasan S, Talano JA, Rayes A, Madden L, Shereck E, Miller HK, Satter LF, Martinez C, Rozmus J, Bednarski JJ, Yu LC, Chellapandian D, Aquino VM, Knutsen A, Chong H, Chopek A, Gillio AP, Joshi A, Rangarajan H, Moore TB, Andolina JR, DeSantes KB, Vander Lugt M, Prockop SE, Shyr DC, Sullivan KE, Parikh S, Weinacht KG, Torgerson TR, Marsh R, Dvorak CC, Chan AY, Haddad E, Heimall JR, Pulsipher MA, Leiding JW, Kohn DB, Puck JM, Notarangelo LD, Rawlings DJ, Cowan MJ, Petrovic A, Pai SY, Burroughs LM. Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood Adv. 2026 Mar 10; 10(5):1783-1798.
Score: 0.046
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Holland S, Seger R, Sullivan KE. The chronicles of chronic granulomatous disease. Clin Immunol. 2005 Aug; 116(2):99-100.
Score: 0.044
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Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church J, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Mar?di L, Sz?cs G, Broides A, Nahum A, Levy J, Kettunen K, Daddali R, Sepp?nen M, V?nttinen M, Martelius T, Gr?nholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ESJ, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarstr?m Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N. One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them. Blood. 2025 May 29; 145(22):2549-2560.
Score: 0.044
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Baccarella A, Patel T, Conrad MA, Macchi M, Boyer B, Pickering O, Borodyanskaya Y, Gaddipati S, Cohen M, Cubero A, Dawany N, Heimall J, Bunin N, Sullivan KE, Kelsen JR. Outcomes of Allogeneic Hematopoietic Stem Cell Transplant in Monogenic Inflammatory Bowel Disease. Clin Gastroenterol Hepatol. 2025 Nov; 23(12):2242-2252.e4.
Score: 0.044
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Gallo PM, Kim J, McNerney KO, Diorio C, Foley C, Kagami L, Wagner K, Petrosa WL, Conlon H, Gollomp KL, Canna SW, Seif AE, Conrad MA, Kelsen JR, Romberg N, Bassiri H, Sullivan KE, Teachey DT, Paessler ME, Behrens EM, Lambert MP. Serum cytokine panels in pediatric clinical practice. J Allergy Clin Immunol. 2025 Feb; 155(2):594-604.e5.
Score: 0.042
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Sullivan KE. Primary care and primary immunodeficiencies. Am Fam Physician. 2003 Nov 15; 68(10):1919, 1923, 1926.
Score: 0.040
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Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004 Feb 01; 103(3):1020-5.
Score: 0.039
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Erez DL, Lokesh S, Howarth KD, Meloni S, Ballester L, Laskin B, Sullivan KE, Blinder J. Immune urinary biomarkers predict infant cardiac surgery-associated acute kidney injury. Pediatr Nephrol. 2024 Feb; 39(2):589-595.
Score: 0.039
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Hernandez-Trujillo V, Zhou C, Scalchunes C, Ochs HD, Sullivan KE, Cunningham-Rundles C, Fuleihan RL, Bonilla FA, Petrovic A, Rawlings DJ, de la Morena MT. A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA. J Clin Immunol. 2023 08; 43(6):1468-1477.
Score: 0.038
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Heltzer M, Jawad AF, Rae J, Curnutte JT, Sullivan KE. Diminished T cell numbers in patients with chronic granulomatous disease. Clin Immunol. 2002 Dec; 105(3):273-8.
Score: 0.037
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Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2023 02; 151(2):547-555.e5.
Score: 0.037
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Gabryszewski SJ, England RN, Sun D, Gentile TL, Hochgertel W, Jyonouchi S, Silverman M, Zaoutis T, Sullivan KE, Henrickson SE. Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID. J Clin Immunol. 2021 11; 41(8):1745-1747.
Score: 0.034
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Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency. Sci Immunol. 2021 06 18; 6(60).
Score: 0.033
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Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Pati?o V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Kr?l?ckov? P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nystr?m S, Buchbinder D, Arkwright PD, Grimbacher B. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. 2022 02; 149(2):736-746.
Score: 0.033
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Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7).
Score: 0.033
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Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management. J Allergy Clin Immunol. 2022 01; 149(1):327-339.
Score: 0.033
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Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, S?nchez-Ram?n S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendon?a LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147(2):520-531.
Score: 0.032
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Deshpande DR, Demirdag YY, Marsh RA, Sullivan KE, Orange JS. Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study. J Clin Immunol. 2021 01; 41(1):29-37.
Score: 0.032
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Kuo CY, Garabedian E, Puck J, Cowan MJ, Sullivan KE, Buckley RH, Cunningham-Rundles C, Marsh R, Candotti F, Kohn DB. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. J Clin Immunol. 2020 11; 40(8):1124-1131.
Score: 0.032
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Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, D?vila Salda?a BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood. 2020 06 04; 135(23):2094-2105.
Score: 0.031
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Chan AY, Leiding JW, Liu X, Logan BR, Burroughs LM, Allenspach EJ, Skoda-Smith S, Uzel G, Notarangelo LD, Slatter M, Gennery AR, Smith AR, Pai SY, Jordan MB, Marsh RA, Cowan MJ, Dvorak CC, Craddock JA, Prockop SE, Chandrakasan S, Kapoor N, Buckley RH, Parikh S, Chellapandian D, Oshrine BR, Bednarski JJ, Cooper MA, Shenoy S, Davila Saldana BJ, Forbes LR, Martinez C, Haddad E, Shyr DC, Chen K, Sullivan KE, Heimall J, Wright N, Bhatia M, Cuvelier GDE, Goldman FD, Meyts I, Miller HK, Seidel MG, Vander Lugt MT, Bacchetta R, Weinacht KG, Andolina JR, Caywood E, Chong H, de la Morena MT, Aquino VM, Shereck E, Walter JE, Dorsey MJ, Seroogy CM, Griffith LM, Kohn DB, Puck JM, Pulsipher MA, Torgerson TR. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. Front Immunol. 2020; 11:239.
Score: 0.031
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Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, Oshrine BR, Cuvelier GDE, Thakar MS, Chen K, Teira P, Shenoy S, Phelan R, Forbes LR, Chellapandian D, D?vila Salda?a BJ, Shah AJ, Weinacht KG, Joshi A, Boulad F, Quigg TC, Dvorak CC, Grossman D, Torgerson T, Graham P, Prasad V, Knutsen A, Chong H, Miller H, de la Morena MT, DeSantes K, Cowan MJ, Notarangelo LD, Kohn DB, Stenger E, Pai SY, Routes JM, Puck JM, Kapoor N, Pulsipher MA, Malech HL, Parikh S, Kang EM. Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. J Clin Immunol. 2019 10; 39(7):653-667.
Score: 0.029
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Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelecic J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kalwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriv?n G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR. Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. J Allergy Clin Immunol. 2019 06; 143(6):2238-2253.
Score: 0.028
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Arnold DE, Seif AE, Jyonouchi S, Sullivan KE, Bunin NJ, Heimall JR. Allogeneic hematopoietic stem cell transplantation in adolescent patients with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2019 Mar; 7(3):1052-1054.e2.
Score: 0.028
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Leung J, Sullivan KE, Perelygina L, Icenogle JP, Fuleihan RL, Lanzieri TM. Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry. J Clin Immunol. 2018 08; 38(6):717-726.
Score: 0.027
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Sacco KA, Garabedian E, Sullivan KE, Joshi AY. Renal Disease in Chronic Granulomatous Disease: Data from the USIDNET Registry. J Clin Immunol. 2018 07; 38(5):556-557.
Score: 0.027
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Unolt M, Barry J, Digilio MC, Marino B, Bassett A, Oechslin E, Low DW, Belasco JB, Kallish S, Sullivan K, Zackai EH, McDonald-McGinn DM. Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome. Eur J Med Genet. 2018 Jul; 61(7):411-415.
Score: 0.027
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Dunn K, Pasternak B, Kelsen JR, Sullivan KE, Dawany N, Wright BL. Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae. Ann Allergy Asthma Immunol. 2018 02; 120(2):214-215.
Score: 0.026
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Conrad MA, Dawany N, Sullivan KE, Devoto M, Kelsen JR. Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2017 12; 23(12):2252-2255.
Score: 0.026
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Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O'Reilly R, Boyer M, Pai SY, Goldman F, Burroughs L, Chandra S, Kletzel M, Thakar M, Connelly J, Cuvelier G, Davila Saldana BJ, Shereck E, Knutsen A, Sullivan KE, DeSantes K, Gillio A, Haddad E, Petrovic A, Quigg T, Smith AR, Stenger E, Yin Z, Shearer WT, Fleisher T, Buckley RH, Dvorak CC. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood. 2017 12 21; 130(25):2718-2727.
Score: 0.026
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Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015 Nov 02; 125(11):4135-48.
Score: 0.023
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Kelsen JR, Dawany N, Moran CJ, Petersen BS, Sarmady M, Sasson A, Pauly-Hubbard H, Martinez A, Maurer K, Soong J, Rappaport E, Franke A, Keller A, Winter HS, Mamula P, Piccoli D, Artis D, Sonnenberg GF, Daly M, Sullivan KE, Baldassano RN, Devoto M. Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease. Gastroenterology. 2015 Nov; 149(6):1415-24.
Score: 0.022
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Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA, Chan KW, Fuleihan RL, Haddad E, Loechelt B, Aquino VM, Gillio A, Davis J, Knutsen A, Smith AR, Moore TB, Schroeder ML, Goldman FD, Connelly JA, Porteus MH, Xiang Q, Shearer WT, Fleisher TA, Kohn DB, Puck JM, Notarangelo LD, Cowan MJ, O'Reilly RJ. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014 Jul 31; 371(5):434-46.
Score: 0.021
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Jyonouchi S, Orange J, Sullivan KE, Krantz I, Deardorff M. Immunologic features of Cornelia de Lange syndrome. Pediatrics. 2013 Aug; 132(2):e484-9.
Score: 0.019
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Mizesko MC, Banerjee PP, Monaco-Shawver L, Mace EM, Bernal WE, Sawalle-Belohradsky J, Belohradsky BH, Heinz V, Freeman AF, Sullivan KE, Holland SM, Torgerson TR, Al-Herz W, Chou J, Hanson IC, Albert MH, Geha RS, Renner ED, Orange JS. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2013 Mar; 131(3):840-8.
Score: 0.019
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Patel K, Akhter J, Kobrynski L, Benjamin Gathmann MA, Gathman B, Davis O, Sullivan KE. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. J Pediatr. 2012 Nov; 161(5):950-3.
Score: 0.018
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Saltzman RW, Monaco-Shawver L, Zhang K, Sullivan KE, Filipovich AH, Orange JS. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity. J Allergy Clin Immunol. 2012 Jun; 129(6):1666-8.
Score: 0.017
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Teachey DT, Greiner R, Seif A, Attiyeh E, Bleesing J, Choi J, Manno C, Rappaport E, Schwabe D, Sheen C, Sullivan KE, Zhuang H, Wechsler DS, Grupp SA. Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome. Br J Haematol. 2009 Apr; 145(1):101-6.
Score: 0.014
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Sediv? A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hans?kov? H, Dvor?kov? L, Mr?zov? L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD. Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. J Clin Immunol. 2007 Nov; 27(6):640-6.
Score: 0.013
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Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore). 2006 Jul; 85(4):193-202.
Score: 0.012
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Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A. 2005 Jun 15; 135(3):278-81.
Score: 0.011
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Teachey DT, Manno CS, Axsom KM, Andrews T, Choi JK, Greenbaum BH, McMann JM, Sullivan KE, Travis SF, Grupp SA. Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood. 2005 Mar 15; 105(6):2443-8.
Score: 0.011