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FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.

Du Q, Huynh LK, Coskun F, Molina E, King MA, Raj P, Khan S, Dozmorov I, Seroogy CM, Wysocki CA, Padron GT, Yates TR, Markert ML, de la Morena MT, van Oers NS.

J Clin Invest. 2019 Nov 1;129(11):4724-4738. doi: 10.1172/JCI127565.


Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM.

Pediatrics. 2019 Feb;143(2). pii: e20182300. doi: 10.1542/peds.2018-2300.


Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S.

Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. doi: 10.1093/hmg/ddy146.


A case of atypical, complete DiGeorge syndrome without 22q11 mutation.

Stone CA Jr, Markert ML, Abraham RS, Norton A.

Ann Allergy Asthma Immunol. 2017 May;118(5):640-642.e2. doi: 10.1016/j.anai.2017.02.025. No abstract available. Erratum in: Ann Allergy Asthma Immunol. 2017 Jul;119(1):98.


Thymus transplantation for complete DiGeorge syndrome: European experience.

Davies EG, Cheung M, Gilmour K, Maimaris J, Curry J, Furmanski A, Sebire N, Halliday N, Mengrelis K, Adams S, Bernatoniene J, Bremner R, Browning M, Devlin B, Erichsen HC, Gaspar HB, Hutchison L, Ip W, Ifversen M, Leahy TR, McCarthy E, Moshous D, Neuling K, Pac M, Papadopol A, Parsley KL, Poliani L, Ricciardelli I, Sansom DM, Voor T, Worth A, Crompton T, Markert ML, Thrasher AJ.

J Allergy Clin Immunol. 2017 Dec;140(6):1660-1670.e16. doi: 10.1016/j.jaci.2017.03.020. Epub 2017 Apr 8.


Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome.

Yin SM, Ferdman RM, Wang L, Markert ML, Tam JS.

J Clin Immunol. 2015 Jul;35(5):435-8. doi: 10.1007/s10875-015-0171-3. Epub 2015 Jun 7.


Complete thymectomy in adult rats with non-invasive endotracheal intubation.

Rendell VR, Giamberardino C, Li J, Markert ML, Brennan TV.

J Vis Exp. 2014 Dec 29;(94). doi: 10.3791/52152.


Clinical course and outcome predictors of critically ill infants with complete DiGeorge anomaly following thymus transplantation.

Lee JH, Markert ML, Hornik CP, McCarthy EA, Gupton SE, Cheifetz IM, Turner DA.

Pediatr Crit Care Med. 2014 Sep;15(7):e321-6. doi: 10.1097/PCC.0000000000000219.


Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.

Yu X, Almeida JR, Darko S, van der Burg M, DeRavin SS, Malech H, Gennery A, Chinn I, Markert ML, Douek DC, Milner JD.

J Allergy Clin Immunol. 2014 Apr;133(4):1109-15. doi: 10.1016/j.jaci.2013.11.018. Epub 2014 Jan 7.


Quantification of total T-cell receptor diversity by flow cytometry and spectratyping.

Ciupe SM, Devlin BH, Markert ML, Kepler TB.

BMC Immunol. 2013 Aug 6;14:35. doi: 10.1186/1471-2172-14-35.


Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3- T cells in complete DiGeorge anomaly.

Chinn IK, Milner JD, Scheinberg P, Douek DC, Markert ML.

Clin Exp Immunol. 2013 Jul;173(1):140-9. doi: 10.1111/cei.12088.


Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.

Heimall J, Keller M, Saltzman R, Bunin N, McDonald-McGinn D, Zakai E, de Villartay JP, Moshous D, Ariue B, McCarthy EA, Devlin BH, Parikh S, Buckley RH, Markert ML.

J Clin Immunol. 2012 Oct;32(5):1141-4. doi: 10.1007/s10875-012-9741-9. Epub 2012 Aug 3.


Human FOXN1-deficiency is associated with αβ double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation.

Albuquerque AS, Marques JG, Silva SL, Ligeiro D, Devlin BH, Dutrieux J, Cheynier R, Pignata C, Victorino RM, Markert ML, Sousa AE.

PLoS One. 2012;7(5):e37042. doi: 10.1371/journal.pone.0037042. Epub 2012 May 10.


Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers.

Knutsen AP, Baker MW, Markert ML.

J Allergy Clin Immunol. 2011 Dec;128(6):1375-6. doi: 10.1016/j.jaci.2011.08.019. Epub 2011 Oct 22. No abstract available.


Thymic microenvironment reconstitution after postnatal human thymus transplantation.

Li B, Li J, Devlin BH, Markert ML.

Clin Immunol. 2011 Sep;140(3):244-59. doi: 10.1016/j.clim.2011.04.004. Epub 2011 Apr 16.


Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly.

Chinn IK, Markert ML.

J Allergy Clin Immunol. 2011 Jun;127(6):1351-5. doi: 10.1016/j.jaci.2011.03.033. Epub 2011 Apr 21. Review.


Successful extracorporeal membrane oxygenation for respiratory failure in an infant with DiGeorge anomaly, following thymus transplantation.

Hornik CP, Hartman ME, Markert ML, Lodge AJ, Cheifetz IM, Turner DA.

Respir Care. 2011 Jun;56(6):866-70. doi: 10.4187/respcare.01051. Epub 2011 Feb 11.


First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.

Markert ML, Marques JG, Neven B, Devlin BH, McCarthy EA, Chinn IK, Albuquerque AS, Silva SL, Pignata C, de Saint Basile G, Victorino RM, Picard C, Debre M, Mahlaoui N, Fischer A, Sousa AE.

Blood. 2011 Jan 13;117(2):688-96. doi: 10.1182/blood-2010-06-292490. Epub 2010 Oct 26.


Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation.

Chinn IK, Olson JA, Skinner MA, McCarthy EA, Gupton SE, Chen DF, Bonilla FA, Roberts RL, Kanariou MG, Devlin BH, Markert ML.

J Allergy Clin Immunol. 2010 Oct;126(4):814-820.e8. doi: 10.1016/j.jaci.2010.07.016. Epub 2010 Sep 15.


Thymus transplantation.

Markert ML, Devlin BH, McCarthy EA.

Clin Immunol. 2010 May;135(2):236-46. doi: 10.1016/j.clim.2010.02.007. Epub 2010 Mar 16. Review.


Comèl-Netherton syndrome defined as primary immunodeficiency.

Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD.

J Allergy Clin Immunol. 2009 Sep;124(3):536-43. doi: 10.1016/j.jaci.2009.06.009. Epub 2009 Aug 14. Erratum in: J Allergy Clin Immunol. 2009 Dec;124(6):1318.


The dynamics of T-cell receptor repertoire diversity following thymus transplantation for DiGeorge anomaly.

Ciupe SM, Devlin BH, Markert ML, Kepler TB.

PLoS Comput Biol. 2009 Jun;5(6):e1000396. doi: 10.1371/journal.pcbi.1000396. Epub 2009 Jun 12.


Thymus transplantation in complete DiGeorge anomaly.

Markert ML, Devlin BH, Chinn IK, McCarthy EA.

Immunol Res. 2009;44(1-3):61-70. doi: 10.1007/s12026-008-8082-5.


Characterization of cultured thymus tissue used for transplantation with emphasis on promiscuous expression of thyroid tissue-specific genes.

Li B, Li J, Hsieh CS, Hale LP, Li YJ, Devlin BH, Markert ML.

Immunol Res. 2009;44(1-3):71-83. doi: 10.1007/s12026-008-8083-4.


Factors affecting success of thymus transplantation for complete DiGeorge anomaly.

Markert ML, Devlin BH, Chinn IK, McCarthy EA, Li YJ.

Am J Transplant. 2008 Aug;8(8):1729-36. doi: 10.1111/j.1600-6143.2008.02301.x. Epub 2008 Jun 28.


Use of allograft biopsies to assess thymopoiesis after thymus transplantation.

Markert ML, Li J, Devlin BH, Hoehner JC, Rice HE, Skinner MA, Li YJ, Hale LP.

J Immunol. 2008 May 1;180(9):6354-64.


The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study.

Selim MA, Markert ML, Burchette JL, Herman CM, Turner JW.

J Cutan Pathol. 2008 Apr;35(4):380-5. doi: 10.1111/j.1600-0560.2007.00816.x.


Treatment of infants with complete DiGeorge anomaly.

Markert ML.

J Allergy Clin Immunol. 2008 Apr;121(4):1063; author reply 1063-4. doi: 10.1016/j.jaci.2007.12.1181. Epub 2008 Mar 4. No abstract available.


Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly.

Chinn IK, Devlin BH, Li YJ, Markert ML.

Clin Immunol. 2008 Mar;126(3):277-81. Epub 2007 Dec 26.


Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, Chinn IK, Hale LP, Kepler TB, He M, Sarzotti M, Skinner MA, Rice HE, Hoehner JC.

Blood. 2007 May 15;109(10):4539-47. Epub 2007 Feb 6.


New developments in primary immunodeficiencies: Report on the 2006 CIS Primary Immunodeficiency Diseases Consortium Conference, June 1, 2006.

Cunningham Rundles C, Fleisher T, Markert ML, Orange J, Ochs H, Sullivan K.

Clin Immunol. 2006 Dec;121(3):369-71. Epub 2006 Jul 24. No abstract available.


SpA: web-accessible spectratype analysis: data management, statistical analysis and visualization.

He M, Tomfohr JK, Devlin BH, Sarzotti M, Markert ML, Kepler TB.

Bioinformatics. 2005 Sep 15;21(18):3697-9. Epub 2005 Jul 28.


Statistical analysis of antigen receptor spectratype data.

Kepler TB, He M, Tomfohr JK, Devlin BH, Sarzotti M, Markert ML.

Bioinformatics. 2005 Aug 15;21(16):3394-400. Epub 2005 Jun 14.


Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations.

Rice HE, Skinner MA, Mahaffey SM, Oldham KT, Ing RJ, Hale LP, Markert ML.

J Pediatr Surg. 2004 Nov;39(11):1607-15.


Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.

Markert ML, Alexieff MJ, Li J, Sarzotti M, Ozaki DA, Devlin BH, Sempowski GD, Rhein ME, Szabolcs P, Hale LP, Buckley RH, Coyne KE, Rice HE, Mahaffey SM, Skinner MA.

J Allergy Clin Immunol. 2004 Apr;113(4):734-41.


Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome.

Markert ML, Alexieff MJ, Li J, Sarzotti M, Ozaki DA, Devlin BH, Sedlak DA, Sempowski GD, Hale LP, Rice HE, Mahaffey SM, Skinner MA.

Blood. 2004 Oct 15;104(8):2574-81. Epub 2004 Apr 20.


Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients.

Markert ML, Sarzotti M, Ozaki DA, Sempowski GD, Rhein ME, Hale LP, Le Deist F, Alexieff MJ, Li J, Hauser ER, Haynes BF, Rice HE, Skinner MA, Mahaffey SM, Jaggers J, Stein LD, Mill MR.

Blood. 2003 Aug 1;102(3):1121-30. Epub 2003 Apr 17.


Thymopoiesis in HIV-infected adults after highly active antiretroviral therapy.

Markert ML, Alvarez-McLeod AP, Sempowski GD, Hale LP, Horvatinovich JM, Weinhold KJ, Bartlett JA, D'Amico TA, Haynes BF.

AIDS Res Hum Retroviruses. 2001 Nov 20;17(17):1635-43.


The role of the thymus in immune reconstitution in aging, bone marrow transplantation, and HIV-1 infection.

Haynes BF, Markert ML, Sempowski GD, Patel DD, Hale LP.

Annu Rev Immunol. 2000;18:529-60. Review.


Effect of highly active antiretroviral therapy and thymic transplantation on immunoreconstitution in HIV infection.

Markert ML, Hicks CB, Bartlett JA, Harmon JL, Hale LP, Greenberg ML, Ferrari G, Ottinger J, Boeck A, Kloster AL, McLaughlin TM, Bleich KB, Ungerleider RM, Lyerly HK, Wilkinson WE, Rousseau FS, Heath-Chiozzi ME, Leonard JM, Haase AT, Shaw GM, Bucy RP, Douek DC, Koup RA, Haynes BF, Bolognesi DP, Weinhold KJ.

AIDS Res Hum Retroviruses. 2000 Mar 20;16(5):403-13.


Transplantation of thymus tissue in complete DiGeorge syndrome.

Markert ML, Boeck A, Hale LP, Kloster AL, McLaughlin TM, Batchvarova MN, Douek DC, Koup RA, Kostyu DD, Ward FE, Rice HE, Mahaffey SM, Schiff SE, Buckley RH, Haynes BF.

N Engl J Med. 1999 Oct 14;341(16):1180-9.


Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome.

Collard HR, Boeck A, Mc Laughlin TM, Watson TJ, Schiff SE, Hale LP, Markert ML.

Clin Immunol. 1999 May;91(2):156-62.


Complete DiGeorge syndrome: persistence of profound immunodeficiency.

Markert ML, Hummell DS, Rosenblatt HM, Schiff SE, Harville TO, Williams LW, Schiff RI, Buckley RH.

J Pediatr. 1998 Jan;132(1):15-21.


Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association.

Markert ML, Majure M, Harville TO, Hulka G, Oldham K.

Pediatr Pulmonol. 1997 Nov;24(5):364-9. No abstract available.


Normalization of the peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome.

Davis CM, McLaughlin TM, Watson TJ, Buckley RH, Schiff SE, Hale LP, Haynes BF, Markert ML.

J Clin Immunol. 1997 Mar;17(2):167-75.


Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.

Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM.

J Pediatr. 1997 Mar;130(3):378-87.


Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus.

Markert ML, Kostyu DD, Ward FE, McLaughlin TM, Watson TJ, Buckley RH, Schiff SE, Ungerleider RM, Gaynor JW, Oldham KT, Mahaffey SM, Ballow M, Driscoll DA, Hale LP, Haynes BF.

J Immunol. 1997 Jan 15;158(2):998-1005.


Mutations in purine nucleoside phosphorylase deficiency.

Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE.

Hum Mutat. 1997;9(2):118-21.


The human thymic microenvironment during organ culture.

Markert ML, Watson TJ, Kaplan I, Hale LP, Haynes BF.

Clin Immunol Immunopathol. 1997 Jan;82(1):26-36.


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