Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 596

1.

Cryptococcus deuterogattii VGIIa Infection Associated with Travel to the Pacific Northwest Outbreak Region in an Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibody-Positive Patient in the United States.

Applen Clancey S, Ciccone EJ, Coelho MA, Davis J, Ding L, Betancourt R, Glaubiger S, Lee Y, Holland SM, Gilligan P, Sung J, Heitman J.

MBio. 2019 Feb 12;10(1). pii: e02733-18. doi: 10.1128/mBio.02733-18.

2.

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.

Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK.

J Allergy Clin Immunol. 2019 Feb 6. pii: S0091-6749(19)30192-7. doi: 10.1016/j.jaci.2019.01.033. [Epub ahead of print]

PMID:
30738173
3.

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency and cytoskeletal defects.

Hsu AP, Donkó A, Arrington ME, Swamydas M, Fink D, Das A, Escobedo O, Bonagura V, Szabolcs P, Steinberg HN, Bergerson J, Skoskiewicz A, Makhija M, Davis J, Foruraghi L, Palmer C, Fuleihan RL, Church JA, Bhandoola A, Lionakis MS, Campbell S, Leto TL, Kuhns D, Holland SM.

Blood. 2019 Feb 5. pii: blood-2018-11-886028. doi: 10.1182/blood-2018-11-886028. [Epub ahead of print]

PMID:
30723080
4.

Tandem Orthotopic Living Donor Liver Transplantation Followed by Same Donor Haploidentical Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency: Tandem Liver and Bone Marrow Transplant in DOCK8 Deficiency.

Freeman AF, Yazigi N, Shah NN, Kleiner DE, Parta M, Atkinson P, Heller T, Holland SM, Kaufman SS, Khan KM, Hickstein DD.

Transplantation. 2019 Jan 30. doi: 10.1097/TP.0000000000002649. [Epub ahead of print]

PMID:
30720689
5.

The microbiome and immunodeficiencies: Lessons from rare diseases.

Pellicciotta M, Rigoni R, Falcone EL, Holland SM, Villa A, Cassani B.

J Autoimmun. 2019 Jan 28. pii: S0896-8411(18)30649-8. doi: 10.1016/j.jaut.2019.01.008. [Epub ahead of print] Review.

PMID:
30704941
6.

West Nile virus encephalitis in GATA2 deficiency.

Rosa JS, Kappagoda S, Hsu AP, Davis J, Holland SM, Liu AY.

Allergy Asthma Clin Immunol. 2019 Jan 24;15:5. doi: 10.1186/s13223-019-0321-x. eCollection 2019.

7.

A review of innate and adaptive immunity to coccidioidomycosis.

Hung CY, Hsu AP, Holland SM, Fierer J.

Med Mycol. 2019 Feb 1;57(Supplement_1):S85-S92. doi: 10.1093/mmy/myy146.

PMID:
30690602
8.

NCF1 (p47phox)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.

Kuhns DB, Hsu AP, Sun D, Lau K, Fink D, Griffith P, Huang DW, Priel DAL, Mendez L, Kreuzburg S, Zerbe CS, De Ravin SS, Malech HL, Holland SM, Wu X, Gallin JI.

Blood Adv. 2019 Jan 22;3(2):136-147. doi: 10.1182/bloodadvances.2018023184.

9.

Clinical features of Sjögren's syndrome patients with autoantibodies against interferons.

Burbelo PD, Browne S, Holland SM, Iadarola MJ, Alevizos I.

Clin Transl Med. 2019 Jan 3;8(1):1. doi: 10.1186/s40169-018-0218-1.

10.

MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.

McReynolds LJ, Yang Y, Yuen Wong H, Tang J, Zhang Y, Mulé MP, Daub J, Palmer C, Foruraghi L, Liu Q, Zhu J, Wang W, West RR, Yohe ME, Hsu AP, Hickstein DD, Townsley DM, Holland SM, Calvo KR, Hourigan CS.

Leuk Res. 2019 Jan;76:70-75. doi: 10.1016/j.leukres.2018.11.013. Epub 2018 Dec 4.

PMID:
30578959
11.

Introduction: Continuing insights into the healthy and diseased immune system through human genetic investigation.

Lenardo MJ, Holland SM.

Immunol Rev. 2019 Jan;287(1):5-8. doi: 10.1111/imr.12730. No abstract available.

PMID:
30565248
12.

GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells.

Jung M, Cordes S, Zou J, Yu SJ, Guitart X, Hong SG, Dang V, Kang E, Donaires FS, Hassan SA, Albitar M, Hsu AP, Holland SM, Hickstein DD, Townsley D, Dunbar CE, Winkler T.

Blood Adv. 2018 Dec 11;2(23):3553-3565. doi: 10.1182/bloodadvances.2018017137.

13.

Cis interaction between sialylated FcγRIIA and the αI-domain of Mac-1 limits antibody-mediated neutrophil recruitment.

Saggu G, Okubo K, Chen Y, Vattepu R, Tsuboi N, Rosetti F, Cullere X, Washburn N, Tahir S, Rosado AM, Holland SM, Anthony RM, Sen M, Zhu C, Mayadas TN.

Nat Commun. 2018 Nov 29;9(1):5058. doi: 10.1038/s41467-018-07506-1.

14.

MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation.

Moraes-Fontes MF, Caramalho Í, Hsu AP, Holland SM, Abecasis M.

J Clin Immunol. 2019 Jan;39(1):4-6. doi: 10.1007/s10875-018-0576-x. Epub 2018 Nov 26. No abstract available.

PMID:
30478525
15.

Advancing Translational Science for Pulmonary NTM Infections: A Roadmap for Research.

Daniel-Wayman S, Abate G, Barber DL, Bermudez LE, Coler RN, Cynamon MH, Daley CL, Davidson RM, Dick T, Floto RA, Henkle E, Holland SM, Jackson M, Lee RE, Nuermberger EL, Olivier KN, Ordway DJ, Prevots DR, Sacchettini JC, Salfinger M, Sassetti CM, Sizemore CF, Winthrop KL, Zelazny AM.

Am J Respir Crit Care Med. 2018 Nov 14. doi: 10.1164/rccm.201807-1273PP. [Epub ahead of print]

PMID:
30428263
16.

A dysbiotic microbiome triggers TH17 cells to mediate oral mucosal immunopathology in mice and humans.

Dutzan N, Kajikawa T, Abusleme L, Greenwell-Wild T, Zuazo CE, Ikeuchi T, Brenchley L, Abe T, Hurabielle C, Martin D, Morell RJ, Freeman AF, Lazarevic V, Trinchieri G, Diaz PI, Holland SM, Belkaid Y, Hajishengallis G, Moutsopoulos NM.

Sci Transl Med. 2018 Oct 17;10(463). pii: eaat0797. doi: 10.1126/scitranslmed.aat0797.

PMID:
30333238
17.

Donor-derived MDS/AML in families with germline GATA2 mutation.

Galera P, Hsu AP, Wang W, Droll S, Chen R, Schwartz JR, Klco JM, Arai S, Maese L, Zerbe C, Parta MJ, Young NS, Holland SM, Hickstein DD, Calvo KR.

Blood. 2018 Nov 1;132(18):1994-1998. doi: 10.1182/blood-2018-07-861070. Epub 2018 Sep 19. No abstract available.

PMID:
30232126
18.

Human defects in STAT3 promote oral mucosal fungal and bacterial dysbiosis.

Abusleme L, Diaz PI, Freeman AF, Greenwell-Wild T, Brenchley L, Desai JV, Ng WI, Holland SM, Lionakis MS, Segre JA, Kong HH, Moutsopoulos NM.

JCI Insight. 2018 Sep 6;3(17). pii: 122061. doi: 10.1172/jci.insight.122061. [Epub ahead of print]

19.

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.

Henrickson SE, Walter JE, Quinn C, Kanakry JA, Bardakjian T, Dimitrova D, Ujhazi B, Csomos K, Bosticardo M, Dobbs K, Nasrallah M, Notarangelo LD, Holland SM, Fadugba O.

J Clin Immunol. 2018 Aug;38(6):642-645. doi: 10.1007/s10875-018-0538-3. Epub 2018 Aug 30. No abstract available.

PMID:
30159811
20.

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension.

Etzion O, Takyar V, Novack V, Gharib AM, Canales R, Adebogun A, Matsumoto E, Eccleston JL, Kleiner DE, Rosenzweig SD, Gunay-Aygun M, Uzel G, Fuss I, Childs R, Holland SM, Levy EB, Liang TJ, Heller T, Koh C.

Hepatol Commun. 2018 Jul 16;2(8):919-928. doi: 10.1002/hep4.1198. eCollection 2018 Aug.

21.

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
22.

Germline GATA2 Mutation and Bone Marrow Failure.

McReynolds LJ, Calvo KR, Holland SM.

Hematol Oncol Clin North Am. 2018 Aug;32(4):713-728. doi: 10.1016/j.hoc.2018.04.004. Epub 2018 May 28. Review.

PMID:
30047422
23.

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.

Esteve-Sole A, Sánchez-Dávila SP, Deyà-Martínez A, Freeman AF, Zelazny AM, Dekker JP, Khil PP, Holland SM, Noguera-Julian A, Bustamante J, Casanova JL, Juan M, Cordova W, Alsina L.

J Clin Immunol. 2018 Aug;38(6):712-716. doi: 10.1007/s10875-018-0535-6. Epub 2018 Jul 23.

PMID:
30039354
24.

TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome.

Myles IA, Anderson ED, Earland NJ, Zarember KA, Sastalla I, Williams KW, Gough P, Moore IN, Ganesan S, Fowler CJ, Laurence A, Garofalo M, Kuhns DB, Kieh MD, Saleem A, Welch PA, Darnell DA, Gallin JI, Freeman AF, Holland SM, Datta SK.

J Clin Invest. 2018 Aug 1;128(8):3595-3604. doi: 10.1172/JCI121486. Epub 2018 Jul 23.

25.

Germline-activating mutations in PIK3CD compromise B cell development and function.

Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, Payne K, Shi W, Brigden H, French E, Bier J, Hermes JR, Zahra D, Sewell WA, Butt D, Elliott M, Boztug K, Meyts I, Choo S, Hsu P, Wong M, Berglund LJ, Gray P, O'Sullivan M, Cole T, Holland SM, Ma CS, Burkhart C, Corcoran LM, Phan TG, Brink R, Uzel G, Deenick EK, Tangye SG.

J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010. Epub 2018 Jul 17.

26.

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J.

J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6.

27.

GM-CSF therapy in human caspase recruitment domain-containing protein 9 deficiency.

Drummond RA, Zahra FT, Natarajan M, Swamydas M, Hsu AP, Wheat LJ, Gavino C, Vinh DC, Holland SM, Mikelis CM, Lionakis MS.

J Allergy Clin Immunol. 2018 Oct;142(4):1334-1338.e5. doi: 10.1016/j.jaci.2018.05.025. Epub 2018 Jun 8. No abstract available.

PMID:
29890237
28.

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.

29.

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
30.

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.

Edwards ESJ, Bier J, Cole TS, Wong M, Hsu P, Berglund LJ, Boztug K, Lau A, Gostick E, Price DA, O'Sullivan M, Meyts I, Choo S, Gray P, Holland SM, Deenick EK, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2019 Jan;143(1):276-291.e6. doi: 10.1016/j.jaci.2018.04.030. Epub 2018 May 22.

PMID:
29800648
31.

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R.

J Clin Invest. 2018 Jul 2;128(7):3041-3052. doi: 10.1172/JCI98814. Epub 2018 Jun 11.

32.

Treatment outcome definitions in nontuberculous mycobacterial pulmonary disease: an NTM-NET consensus statement.

van Ingen J, Aksamit T, Andrejak C, Böttger EC, Cambau E, Daley CL, Griffith DE, Guglielmetti L, Holland SM, Huitt GA, Koh WJ, Lange C, Leitman P, Marras TK, Morimoto K, Olivier KN, Santin M, Stout JE, Thomson R, Tortoli E, Wallace RJ Jr, Winthrop KL, Wagner D; for NTM-NET.

Eur Respir J. 2018 Mar 22;51(3). pii: 1800170. doi: 10.1183/13993003.00170-2018. Print 2018 Mar. No abstract available.

PMID:
29567726
33.

Emergence of Polyfunctional Cytotoxic CD4+ T Cells in Mycobacterium avium Immune Reconstitution Inflammatory Syndrome in Human Immunodeficiency Virus-Infected Patients.

Hsu DC, Breglio KF, Pei L, Wong CS, Andrade BB, Sheikh V, Smelkinson M, Petrovas C, Rupert A, Gil-Santana L, Zelazny A, Holland SM, Olivier K, Barber D, Sereti I.

Clin Infect Dis. 2018 Jul 18;67(3):437-446. doi: 10.1093/cid/ciy016.

PMID:
29538651
34.

IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.

Hsu AP, Zerbe CS, Foruraghi L, Iovine NM, Leiding JW, Mushatt DM, Wild L, Kuhns DB, Holland SM.

Clin Infect Dis. 2018 Jul 18;67(3):456-459. doi: 10.1093/cid/ciy186.

PMID:
29534156
35.

Oocyte cryopreservation for women with GATA2 deficiency.

Zolton JR, Parikh TP, Hickstein DD, Holland SM, Hill MJ, DeCherney AH, Wolff EF.

J Assist Reprod Genet. 2018 Jul;35(7):1201-1207. doi: 10.1007/s10815-018-1146-0. Epub 2018 Mar 13.

PMID:
29532200
36.

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Lawless D, Geier CB, Farmer JR, Lango Allen H, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B; NIHR BioResource–Rare Diseases Consortium, Thaventhiran J, Walter JE, Savic S.

J Allergy Clin Immunol. 2018 Jun;141(6):2303-2306. doi: 10.1016/j.jaci.2018.02.007. Epub 2018 Mar 2. No abstract available.

37.

Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.

Parta M, Shah NN, Baird K, Rafei H, Calvo KR, Hughes T, Cole K, Kenyon M, Schuver BB, Cuellar-Rodriguez J, Zerbe CS, Holland SM, Hickstein DD.

Biol Blood Marrow Transplant. 2018 Jun;24(6):1250-1259. doi: 10.1016/j.bbmt.2018.01.030. Epub 2018 Feb 3.

PMID:
29412158
38.

Clonally expanded γδ T cells protect against Staphylococcus aureus skin reinfection.

Dillen CA, Pinsker BL, Marusina AI, Merleev AA, Farber ON, Liu H, Archer NK, Lee DB, Wang Y, Ortines RV, Lee SK, Marchitto MC, Cai SS, Ashbaugh AG, May LS, Holland SM, Freeman AF, Miller LG, Yeaman MR, Simon SI, Milner JD, Maverakis E, Miller LS.

J Clin Invest. 2018 Mar 1;128(3):1026-1042. doi: 10.1172/JCI96481. Epub 2018 Feb 5.

39.

Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.

Fisher KE, Hsu AP, Williams CL, Sayeed H, Merritt BY, Elghetany MT, Holland SM, Bertuch AA, Gramatges MM.

Blood Adv. 2017 Feb 27;1(7):443-448. doi: 10.1182/bloodadvances.2016002311. eCollection 2017 Feb 28.

40.

Renal Fanconi syndrome with meropenem/amoxicillin-clavulanate during treatment of extensively drug-resistant tuberculosis.

Abadie ME, Strich JR, Kim T, Xie YL, Fennelly KP, Olivier KN, Waldman M, Arora K, Holland SM, Chen RY.

Eur Respir J. 2017 Dec 28;50(6). pii: 1702023. doi: 10.1183/13993003.02023-2017. Print 2017 Dec. No abstract available.

PMID:
29284688
41.

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.

42.

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.

43.

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.

Zimmerman O, Rösler B, Zerbe CS, Rosen LB, Hsu AP, Uzel G, Freeman AF, Sampaio EP, Rosenzweig SD, Kuehn HS, Kim T, Brooks KM, Kumar P, Wang X, Netea MG, van de Veerdonk FL, Holland SM.

Open Forum Infect Dis. 2017 Sep 22;4(4):ofx202. doi: 10.1093/ofid/ofx202. eCollection 2017 Fall.

44.

Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.

Moraes-Fontes MF, Hsu AP, Caramalho I, Martins C, Araújo AC, Lourenço F, Taulaigo AV, Lladó A, Holland SM, Uzel G.

Clin Case Rep. 2017 Nov 6;5(12):2066-2070. doi: 10.1002/ccr3.1257. eCollection 2017 Dec.

45.

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.

46.

Autoantibodies to Granulocyte-Macrophage Colony-Stimulating Factor Associated With Severe and Unusual Manifestations of Cryptococcus gattii Infections.

Crum-Cianflone NF, Lam PV, Ross-Walker S, Rosen LB, Holland SM.

Open Forum Infect Dis. 2017 Oct 5;4(4):ofx211. doi: 10.1093/ofid/ofx211. eCollection 2017 Fall.

47.

Melanoma in patients with GATA2 deficiency.

Nguyen J, Alexander T, Jiang H, Hill N, Abdullaev Z, Pack SD, Hsu AP, Holland SM, Hickstein DD, Engels EA, Brownell I.

Pigment Cell Melanoma Res. 2018 Mar;31(2):337-340. doi: 10.1111/pcmr.12671. Epub 2017 Dec 10.

PMID:
29156497
48.

The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease.

Straughan DM, McLoughlin KC, Mullinax JE, Marciano BE, Freeman AF, Anderson VL, Uzel G, Azoury SC, Sorber R, Quadri HS, Malech HL, DeRavin SS, Kamal N, Koh C, Zerbe CS, Kuhns DB, Gallin JI, Heller T, Holland SM, Rudloff U.

Clin Infect Dis. 2018 Apr 17;66(9):1427-1434. doi: 10.1093/cid/cix1012.

PMID:
29145578
49.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Vargas-Hernández A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LR.

J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27.

PMID:
29111217
50.

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, Hsu AP, Holland SM, Hickstein DD, Jolles S, Krance R, Sasa G, Taskinen M, Koskenvuo M, Saarela J, van Montfrans J, Wilson K, Bosch B, Moens L, Hershfield M, Meyts I; Deficiency of Adenosine Deaminase Type 2 Foundation.

Blood. 2017 Dec 14;130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3.

Supplemental Content

Loading ...
Support Center