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Items: 1 to 50 of 52

1.

Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase.

Howe MK, Dowdell K, Roy A, Niemela JE, Wilson W, McElwee JJ, Hughes JD, Cohen JI.

Front Immunol. 2019 Aug 27;10:2000. doi: 10.3389/fimmu.2019.02000. eCollection 2019.

2.

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance.

Ferré EMN, Break TJ, Burbelo PD, Allgäuer M, Kleiner DE, Jin D, Xu Z, Folio LR, Mollura DJ, Swamydas M, Gu W, Hunsberger S, Lee CR, Bondici A, Hoffman KW, Lim JK, Dobbs K, Niemela JE, Fleisher TA, Hsu AP, Snow LN, Darnell DN, Ojaimi S, Cooper MA, Bozzola M, Kleiner GI, Martinez JC, Deterding RR, Kuhns DB, Heller T, Winer KK, Rajan A, Holland SM, Notarangelo LD, Fennelly KP, Olivier KN, Lionakis MS.

Sci Transl Med. 2019 Jun 5;11(495). pii: eaav5597. doi: 10.1126/scitranslmed.aav5597.

PMID:
31167928
3.

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.

Front Immunol. 2019 Feb 14;10:77. doi: 10.3389/fimmu.2019.00077. eCollection 2019.

4.

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M.

Front Immunol. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023. eCollection 2019.

5.

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD.

J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11.

6.

Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.

Natarajan M, Hsu AP, Weinreich MA, Zhang Y, Niemela JE, Butman JA, Pittaluga S, Sugui J, Collar AL, Lim JK, Zangeneh T, Carr T, Oler AJ, Similuk M, Rosen LB, Desai JV, Freeman AF, Holland SM, Kwon-Chung KJ, Milner JD, Lionakis MS.

J Allergy Clin Immunol. 2018 Sep;142(3):993-997.e3. doi: 10.1016/j.jaci.2018.05.009. Epub 2018 May 24. No abstract available.

PMID:
29803798
7.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I.

Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22.

8.

STAT5B: A Differential Regulator of the Life and Death of CD4+ Effector Memory T Cells.

Majri SS, Fritz JM, Villarino AV, Zheng L, Kanellopoulou C, Chaigne-Delalande B, Grönholm J, Niemela JE, Afzali B, Biancalana M, Pittaluga S, Sun A, Cohen JL, Holland SM, O'Shea JJ, Uzel G, Lenardo MJ.

J Immunol. 2018 Jan 1;200(1):110-118. doi: 10.4049/jimmunol.1701133. Epub 2017 Nov 29.

9.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Kuehn HS, Niemela JE, Sreedhara K, Stoddard JL, Grossman J, Wysocki CA, de la Morena MT, Garofalo M, Inlora J, Snyder MP, Lewis DB, Stratakis CA, Fleisher TA, Rosenzweig SD.

Blood. 2017 Sep 28;130(13):1553-1564. doi: 10.1182/blood-2017-05-782177. Epub 2017 Aug 4.

10.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Bogaert DJ, Dullaers M, Kuehn HS, Leroy BP, Niemela JE, De Wilde H, De Schryver S, De Bruyne M, Coppieters F, Lambrecht BN, De Baets F, Rosenzweig SD, De Baere E, Haerynck F.

Sci Rep. 2017 Jun 16;7(1):3702. doi: 10.1038/s41598-017-02434-4.

11.

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS.

JCI Insight. 2016 Aug 18;1(13). pii: e88782.

12.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD.

N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234.

13.

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

Cohen JI, Niemela JE, Stoddard JL, Pittaluga S, Heslop H, Jaffe ES, Dowdell K.

J Clin Immunol. 2015 Jul;35(5):445-8. doi: 10.1007/s10875-015-0168-y. Epub 2015 May 7.

14.

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.

Stoddard JL, Niemela JE, Fleisher TA, Rosenzweig SD.

Front Immunol. 2014 Nov 3;5:531. doi: 10.3389/fimmu.2014.00531. eCollection 2014.

15.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA.

Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.

16.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G.

Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11.

17.

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ.

Blood. 2014 Mar 27;123(13):1989-99. doi: 10.1182/blood-2013-10-535393. Epub 2014 Jan 7.

18.

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G.

Nat Immunol. 2014 Jan;15(1):88-97. doi: 10.1038/ni.2771. Epub 2013 Oct 28.

19.

Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis.

Rudman Spergel A, Walkovich K, Price S, Niemela JE, Wright D, Fleisher TA, Rao VK.

Pediatrics. 2013 Nov;132(5):e1440-4. doi: 10.1542/peds.2012-2748. Epub 2013 Oct 7.

20.

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.

Kuehn HS, Niemela JE, Rangel-Santos A, Zhang M, Pittaluga S, Stoddard JL, Hussey AA, Evbuomwan MO, Priel DA, Kuhns DB, Park CL, Fleisher TA, Uzel G, Oliveira JB.

Blood. 2013 Apr 18;121(16):3117-25. doi: 10.1182/blood-2012-12-469544. Epub 2013 Feb 21.

21.

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation.

Hansford JR, Pal M, Poplawski N, Haan E, Boog B, Ferrante A, Davis J, Niemela JE, Rao VK, Suppiah R.

Haematologica. 2013 Apr;98(4):e38-9. doi: 10.3324/haematol.2012.070524. Epub 2012 Sep 14. No abstract available.

22.

Cryptococcal osteomyelitis in a child with a novel compound mutation of the IL12RB1 gene.

Jirapongsananuruk O, Luangwedchakarn V, Niemela JE, Pacharn P, Visitsunthorn N, Thepthai C, Vichyanond P, Piboonpocanun S, Fleisher TA.

Asian Pac J Allergy Immunol. 2012 Mar;30(1):79-82.

23.

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Hsu AP, Dowdell KC, Davis J, Niemela JE, Anderson SM, Shaw PA, Rao VK, Puck JM.

Genet Med. 2012 Jan;14(1):81-9. doi: 10.1038/gim.0b013e3182310b7d. Epub 2011 Oct 7.

PMID:
22237435
24.

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS, Caminha I, Niemela JE, Rao VK, Davis J, Fleisher TA, Oliveira JB.

J Immunol. 2011 May 15;186(10):6035-43. doi: 10.4049/jimmunol.1100021. Epub 2011 Apr 13.

25.

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis.

Niemela JE, Lu L, Fleisher TA, Davis J, Caminha I, Natter M, Beer LA, Dowdell KC, Pittaluga S, Raffeld M, Rao VK, Oliveira JB.

Blood. 2011 Mar 10;117(10):2883-6. doi: 10.1182/blood-2010-07-295501. Epub 2010 Nov 15.

26.

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.

Hum Mutat. 2010 Sep;31(9):1080-8. doi: 10.1002/humu.21322.

27.

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.

Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20.

28.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK.

Blood. 2010 Jun 24;115(25):5164-9. doi: 10.1182/blood-2010-01-263145. Epub 2010 Apr 1.

29.

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome.

Caminha I, Fleisher TA, Hornung RL, Dale JK, Niemela JE, Price S, Davis J, Perkins K, Dowdell KC, Brown MR, Rao VK, Oliveira JB.

J Allergy Clin Immunol. 2010 Apr;125(4):946-949.e6. doi: 10.1016/j.jaci.2009.12.983. Epub 2010 Mar 15. No abstract available.

30.

Mutation analysis in primary immunodeficiency diseases: case studies.

Hsu AP, Fleisher TA, Niemela JE.

Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):517-24. doi: 10.1097/ACI.0b013e3283328f59. Review.

31.

A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand.

Luangwedchakarn V, Jirapongsaranuruk O, NiemeLa JE, Thepthai C, Chokephaibulkit K, Sukpanichnant S, Pacharn P, Visitsunthorn N, Vichyanond P, Piboonpocanun S, Fleisher TA.

Asian Pac J Allergy Immunol. 2009 Jun-Sep;27(2-3):161-5.

32.

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

Rangel-Santos A, Wakim VL, Jacob CM, Pastorino AC, Cunha JM, Collanieri AC, Niemela JE, Grumach AS, Duarte AJ, Moraes-Vasconcelos D, Oliveira JB.

Scand J Immunol. 2009 Feb;69(2):169-73. doi: 10.1111/j.1365-3083.2008.02198.x.

33.

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.

Salt BH, Niemela JE, Pandey R, Hanson EP, Deering RP, Quinones R, Jain A, Orange JS, Gelfand EW.

J Allergy Clin Immunol. 2008 Apr;121(4):976-82. doi: 10.1016/j.jaci.2007.11.014. Epub 2008 Jan 7.

34.

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

Oliveira JB, Bidère N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ.

Proc Natl Acad Sci U S A. 2007 May 22;104(21):8953-8. Epub 2007 May 16.

35.

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

Niemela JE, Hsu AP, Fleisher TA, Puck JM.

Mol Cell Probes. 2006 Feb;20(1):21-6. Epub 2005 Nov 4.

PMID:
16271851
36.

Magnesium (mg) retention and mood effects after intravenous mg infusion in premenstrual dysphoric disorder.

Khine K, Rosenstein DL, Elin RJ, Niemela JE, Schmidt PJ, Rubinow DR.

Biol Psychiatry. 2006 Feb 15;59(4):327-33. Epub 2005 Sep 28.

37.

Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.

Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe ES.

Am J Surg Pathol. 2005 Jul;29(7):903-11.

PMID:
15958855
38.

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.

Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, Fleisher TA, Bonilla FA, Geha RS.

J Allergy Clin Immunol. 2004 Sep;114(3):650-6.

PMID:
15356572
39.

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.

Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, Fleisher TA.

J Allergy Clin Immunol. 2003 Feb;111(2):374-9.

PMID:
12589359
40.

CYBB mutation analysis in X-linked chronic granulomatous disease.

Jirapongsananuruk O, Niemela JE, Malech HL, Fleisher TA.

Clin Immunol. 2002 Jul;104(1):73-6.

PMID:
12139950
41.

Effects of interleukin 2 therapy on lymphocyte magnesium levels.

McKee MD, Cecco SA, Niemela JE, Cormier J, Kim CJ, Steinberg SM, Rehak NN, Elin RJ, Rosenberg SA.

J Lab Clin Med. 2002 Jan;139(1):5-12.

PMID:
11873239
42.

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.

Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP.

Clin Immunol. 2000 Apr;95(1 Pt 1):33-8.

PMID:
10794430
43.

The effect of smoking on the serum ionized magnesium concentration is method-dependent.

Niemela JE, Cecco SA, Rehak NN, Elin RJ.

Arch Pathol Lab Med. 1997 Oct;121(10):1087-92.

PMID:
9341589
44.

Thiocyanate in smokers interferes with the Nova magnesium ion-selective electrode.

Rehak NN, Cecco SA, Niemela JE, Elin RJ.

Clin Chem. 1997 Sep;43(9):1595-600.

45.
46.

Linearity and stability of the AVL and Nova magnesium and calcium ion-selective electrodes.

Rehak NN, Cecco SA, Niemela JE, Hristova EN, Elin RJ.

Clin Chem. 1996 Jun;42(6 Pt 1):880-7.

47.

Determination of ionized magnesium in platelets and correlation with selected variables.

Niemela JE, Snader BM, Elin RJ.

Clin Chem. 1996 May;42(5):744-8.

48.

Relationship between skeletal muscle intracellular ionized magnesium and measurements of blood magnesium.

Ryschon TW, Rosenstein DL, Rubinow DR, Niemela JE, Elin RJ, Balaban RS.

J Lab Clin Med. 1996 Feb;127(2):207-13.

PMID:
8636650
49.

Comparison of precision and effect of pH and calcium on the AVL and NOVA magnesium ion-selective electrodes.

Elin RJ, Hristova EN, Cecco SA, Niemela JE, Rehak NN.

Scand J Clin Lab Invest Suppl. 1996;224:203-10.

PMID:
8865437
50.

Analyzer-dependent differences in results for ionized calcium, ionized magnesium, sodium, and pH.

Hristova EN, Cecco S, Niemela JE, Rehak NN, Elin RJ.

Clin Chem. 1995 Nov;41(11):1649-53.

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