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Items: 1 to 20 of 103

1.

A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients.

Barreiros LA, Segundo GRS, Grumach AS, Torgerson TR, Ochs HD, Condino-Neto A.

Front Pediatr. 2018 Aug 20;6:230. doi: 10.3389/fped.2018.00230. eCollection 2018.

2.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL.

J Allergy Clin Immunol. 2018 Aug 28. pii: S0091-6749(18)31201-6. doi: 10.1016/j.jaci.2018.08.013. [Epub ahead of print]

PMID:
30170123
3.

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, Leiding JW.

J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. doi: 10.1016/j.jaci.2018.07.020. Epub 2018 Aug 6. No abstract available.

PMID:
30092289
4.

The International Alliance of Primary Immune Deficiency Societies.

Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS; European Society for Immunodeficiencies; Clinical Immunology Society; African Society for Immunodeficiencies; Latin American Society for Immunodeficiencies; Asia Pacific Society for Immunodeficiencies.

J Clin Immunol. 2018 Jun 5. doi: 10.1007/s10875-018-0517-8. [Epub ahead of print] No abstract available.

PMID:
29872941
5.

Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 May;38(4):540-541. doi: 10.1007/s10875-018-0510-2.

PMID:
29781065
6.

Rapid immune reconstitution of SCID-X1 canines after G-CSF/AMD3100 mobilization and in vivo gene therapy.

Humbert O, Chan F, Rajawat YS, Torgerson TR, Burtner CR, Hubbard NW, Humphrys D, Norgaard ZK, O'Donnell P, Adair JE, Trobridge GD, Scharenberg AM, Felsburg PJ, Rawlings DJ, Kiem HP.

Blood Adv. 2018 May 8;2(9):987-999. doi: 10.1182/bloodadvances.2018016451.

7.

Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19. Erratum in: J Clin Immunol. 2018 May 21;:.

PMID:
29675737
8.

Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked.

Rosenberg JM, Maccari ME, Barzaghi F, Allenspach EJ, Pignata C, Weber G, Torgerson TR, Utz PJ, Bacchetta R.

Front Immunol. 2018 Mar 29;9:544. doi: 10.3389/fimmu.2018.00544. eCollection 2018.

9.

CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ.

Cabral-Marques O, França TT, Al-Sbiei A, Schimke LF, Khan TA, Feriotti C, da Costa TA, Junior OR, Weber CW, Ferreira JF, Tavares FS, Valente C, Di Gesu RSW, Iqbal A, Riemekasten G, Amarante-Mendes GP, Marzagão Barbuto JA, Costa-Carvalho BT, Pereira PVS, Fernandez-Cabezudo MJ, Calich VLG, Notarangelo LD, Torgerson TR, Al-Ramadi BK, Ochs HD, Condino-Neto A.

J Allergy Clin Immunol. 2018 Nov;142(5):1571-1588.e9. doi: 10.1016/j.jaci.2018.02.026. Epub 2018 Mar 5.

PMID:
29518426
10.

Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country.

Segundo GRS, Nguyen ATV, Thuc HT, Nguyen LNQ, Kobayashi RH, Le HT, Le HTM, Torgerson TR, Ochs HD.

Front Immunol. 2018 Feb 16;9:289. doi: 10.3389/fimmu.2018.00289. eCollection 2018.

11.

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE.

J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.

12.

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE.

J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.

13.

Paternal gonadal mosaicism as cause of a puzzling inheritance pattern of activated PI3-kinase delta syndrome.

Segundo GRS, Takano OA, Moraes LSL, Nadaf MISV, Fernandes SJ, Ochs HD, Torgerson TR.

Ann Allergy Asthma Immunol. 2017 Dec;119(6):564-566. doi: 10.1016/j.anai.2017.09.054. Epub 2017 Nov 6. No abstract available.

PMID:
29107464
14.

Soluble CD40L is associated with increased oxidative burst and neutrophil extracellular trap release in Behçet's disease.

Perazzio SF, Soeiro-Pereira PV, Dos Santos VC, de Brito MV, Salu B, Oliva MLV, Stevens AM, de Souza AWS, Ochs HD, Torgerson TR, Condino-Neto A, Andrade LEC.

Arthritis Res Ther. 2017 Oct 19;19(1):235. doi: 10.1186/s13075-017-1443-5.

15.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena MT, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Oct 10;8:1244. doi: 10.3389/fimmu.2017.01244. eCollection 2017.

16.

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity.

Schimke LF, Hibbard J, Martinez-Barricarte R, Khan TA, de Souza Cavalcante R, Borges de Oliveira Junior E, Takahashi França T, Iqbal A, Yamamoto G, Arslanian C, Feriotti C, Costa TA, Bustamante J, Boisson-Dupuis S, Casanova JL, Marzagao Barbuto JA, Zatz M, Poncio Mendes R, Garcia Calich VL, Ochs HD, Torgerson TR, Cabral-Marques O, Condino-Neto A.

J Infect Dis. 2017 Dec 19;216(12):1623-1634. doi: 10.1093/infdis/jix522.

PMID:
29029192
17.

DOCK8 regulates fitness and function of regulatory T cells through modulation of IL-2 signaling.

Singh AK, Eken A, Hagin D, Komal K, Bhise G, Shaji A, Arkatkar T, Jackson SW, Bettelli E, Torgerson TR, Oukka M.

JCI Insight. 2017 Oct 5;2(19). pii: 94275. doi: 10.1172/jci.insight.94275. [Epub ahead of print]

18.

Suppression by human FOXP3+ regulatory T cells requires FOXP3-TIP60 interactions.

Bin Dhuban K, d'Hennezel E, Nagai Y, Xiao Y, Shao S, Istomine R, Alvarez F, Ben-Shoshan M, Ochs H, Mazer B, Li B, Sekine C, Berezov A, Hancock W, Torgerson TR, Greene MI, Piccirillo CA.

Sci Immunol. 2017 Jun 16;2(12). pii: eaai9297. doi: 10.1126/sciimmunol.aai9297.

PMID:
28783662
19.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 10;8:1244.

20.

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.

Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS.

J Allergy Clin Immunol. 2018 Mar;141(3):1060-1073.e3. doi: 10.1016/j.jaci.2017.05.030. Epub 2017 Jun 17.

PMID:
28629746

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