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IRIS as a post-transplantation complication in primary immunodeficiency with disseminated M. avium.

Manion M, Dimitrova D, Pei L, Gea-Banacloche J, Zelazny A, Lisco A, Zerbe C, Freeman AF, Holland SM, Kanakry CG, Kanakry JA, Sereti I.

Clin Infect Dis. 2019 Jun 12. pii: ciz507. doi: 10.1093/cid/ciz507. [Epub ahead of print]


IL-10 Indirectly Downregulates IL-4-Induced IgE Production by Human B Cells.

Lin AA, Freeman AF, Nutman TB.

Immunohorizons. 2018 Dec 18;2(11):398-406. doi: 10.4049/immunohorizons.1800076.


Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS.

JCI Insight. 2019 Apr 25;5. pii: 127527. doi: 10.1172/jci.insight.127527.


Mycobacteria-Specific T Cells May Be Expanded From Healthy Donors and Are Near Absent in Primary Immunodeficiency Disorders.

Patel S, Lang H, Sani G, Freeman AF, Leiding J, Hanley PJ, Cruz CR, Grant M, Wang Y, Oshrine B, Palmer C, Holland SM, Bollard CM, Keller MD.

Front Immunol. 2019 Mar 29;10:621. doi: 10.3389/fimmu.2019.00621. eCollection 2019.


IL-21/type I interferon interplay regulates neutrophil-dependent innate immune responses to Staphylococcus aureus.

Spolski R, West EE, Li P, Veenbergen S, Yung S, Kazemian M, Oh J, Yu ZX, Freeman AF, Holland SM, Murphy PM, Leonard WJ.

Elife. 2019 Apr 16;8. pii: e45501. doi: 10.7554/eLife.45501.


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]


Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.

Freeman AF.

J Pediatric Infect Dis Soc. 2018 Dec 26;7(suppl_2):S79-S82. doi: 10.1093/jpids/piy114. Review.


Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.

Su HC, Jing H, Angelus P, Freeman AF.

Immunol Rev. 2019 Jan;287(1):9-19. doi: 10.1111/imr.12723. Review.


Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN.

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.


Addendum to: Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency Using Post-Transplantation Cyclophosphamide.

Shah NN, Freeman AF, Hickstein DD.

Biol Blood Marrow Transplant. 2019 Feb;25(2):e65-e67. doi: 10.1016/j.bbmt.2018.11.014. Epub 2018 Nov 22. No abstract available.


An Update on Syndromes with a Hyper-IgE Phenotype.

Bergerson JRE, Freeman AF.

Immunol Allergy Clin North Am. 2019 Feb;39(1):49-61. doi: 10.1016/j.iac.2018.08.007. Review.


Expanded skin virome in DOCK8-deficient patients.

Tirosh O, Conlan S, Deming C, Lee-Lin SQ, Huang X; NISC Comparative Sequencing Program, Su HC, Freeman AF, Segre JA, Kong HH.

Nat Med. 2018 Dec;24(12):1815-1821. doi: 10.1038/s41591-018-0211-7. Epub 2018 Nov 5.


Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.

Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, Barlogis V, Belohradsky BH, Bonfim C, Bredius RG, Chu JI, Ciocarlie OC, Doğu F, Gaspar HB, Geha RS, Gennery AR, Hauck F, Hawwari A, Hickstein DD, Hoenig M, Ikinciogullari A, Klein C, Kumar A, Ifversen MRS, Matthes S, Metin A, Neven B, Pai SY, Parikh SH, Picard C, Renner ED, Sanal Ö, Schulz AS, Schuster F, Shah NN, Shereck EB, Slatter MA, Su HC, van Montfrans J, Woessmann W, Ziegler JB, Albert MH; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies.

J Allergy Clin Immunol Pract. 2019 Mar;7(3):848-855. doi: 10.1016/j.jaip.2018.10.035. Epub 2018 Nov 2.


Warts and DADA2: a Mere Coincidence?

Arts K, Bergerson JRE, Ombrello AK, Similuk M, Oler AJ, Agharahimi A, Mace EM, Hershfield M, Wouters C, De Somer L, Morren MA, Diego RP, Moens L, Freeman AF, Meyts I.

J Clin Immunol. 2018 Nov;38(8):836-843. doi: 10.1007/s10875-018-0565-0. Epub 2018 Nov 1. No abstract available.


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.


STAT1 and STAT3 mutations: important lessons for clinical immunologists.

Olbrich P, Freeman AF.

Expert Rev Clin Immunol. 2018 Dec;14(12):1029-1041. doi: 10.1080/1744666X.2018.1531704. Epub 2018 Oct 25.


Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.

Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E.

J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21.


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. eCollection 2018 Sep 6.


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. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.


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.


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.


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.


Human TH9 differentiation is dependent on signal transducer and activator of transcription (STAT) 3 to restrain STAT1-mediated inhibition.

Zhang Y, Siegel AM, Sun G, Dimaggio T, Freeman AF, Milner JD.

J Allergy Clin Immunol. 2019 Mar;143(3):1108-1118.e4. doi: 10.1016/j.jaci.2018.06.036. Epub 2018 Jul 18.


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.


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.


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.


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.


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.


Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham-Rundles C.

J Allergy Clin Immunol Pract. 2018 May - Jun;6(3):996-1001. doi: 10.1016/j.jaip.2017.06.041. Epub 2017 Sep 19.


Erratum to: Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.

Sullivan KE, Bassiri H, Bousfiha AA, Costa-Carvalho BT, Freeman AF, Hagin D, Lau YL, Lionakis MS, Moreira I, Pinto JA, Isabel de Moraes-Pinto M, Rawat A, Reda SM, Reyes SOL, Seppänen M, Tang MLK.

J Clin Immunol. 2017 Oct;37(7):693-694. doi: 10.1007/s10875-017-0436-0. No abstract available.


Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome.

Arora M, Bagi P, Strongin A, Heimall J, Zhao X, Lawrence MG, Trivedi A, Henderson C, Hsu A, Quezado M, Kleiner DE, Venkatesan AM, Holland SM, Freeman AF, Heller T.

J Clin Immunol. 2017 Oct;37(7):695-700. doi: 10.1007/s10875-017-0429-z. Epub 2017 Aug 13.


Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.

Sullivan KE, Bassiri H, Bousfiha AA, Costa-Carvalho BT, Freeman AF, Hagin D, Lau YL, Lionakis MS, Moreira I, Pinto JA, de Moraes-Pinto MI, Rawat A, Reda SM, Reyes SOL, Seppänen M, Tang MLK.

J Clin Immunol. 2017 Oct;37(7):650-692. doi: 10.1007/s10875-017-0426-2. Epub 2017 Aug 7. Review. Erratum in: J Clin Immunol. 2017 Aug 25;:.


A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH.

J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26.


PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients.

Zhang Y, Ma CA, Lawrence MG, Break TJ, O'Connell MP, Lyons JJ, López DB, Barber JS, Zhao Y, Barber DL, Freeman AF, Holland SM, Lionakis MS, Milner JD.

J Exp Med. 2017 Sep 4;214(9):2523-2533. doi: 10.1084/jem.20161427. Epub 2017 Jul 14.


Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome.

Sastalla I, Williams KW, Anderson ED, Myles IA, Reckhow JD, Espinoza-Moraga M, Freeman AF, Datta SK.

Pathogens. 2017 Jun 6;6(2). pii: E23. doi: 10.3390/pathogens6020023.


X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability.

Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, Kreuzburg S, Yockey L, Hunsberger S, Foruraghi L, Barnhart LA, Matharu K, Anderson V, Darnell DN, Frein C, Fink DL, Lau KP, Long Priel DA, Gallin JI, Malech HL, Uzel G, Freeman AF, Kuhns DB, Rosenzweig SD, Holland SM.

J Allergy Clin Immunol. 2018 Jan;141(1):365-371. doi: 10.1016/j.jaci.2017.04.035. Epub 2017 May 18.


DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation.

Dimitriades VR, Devlin V, Pittaluga S, Su HC, Holland SM, Wilson W, Dunleavy K, Shah NN, Freeman AF.

Front Pediatr. 2017 Feb 28;5:38. doi: 10.3389/fped.2017.00038. eCollection 2017.


Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD.

J Exp Med. 2017 Apr 3;214(4):1201. doi: 10.1084/jem.2016143503082017c. Epub 2017 Mar 13. No abstract available.


Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide.

Shah NN, Freeman AF, Su H, Cole K, Parta M, Moutsopoulos NM, Baris S, Karakoc-Aydiner E, Hughes TE, Kong HH, Holland SM, Hickstein DD.

Biol Blood Marrow Transplant. 2017 Jun;23(6):980-990. doi: 10.1016/j.bbmt.2017.03.016. Epub 2017 Mar 10.


Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation.

Abd-Elmoniem KZ, Ramos N, Yazdani SK, Ghanem AM, Holland SM, Freeman AF, Gharib AM.

Atherosclerosis. 2017 Mar;258:20-25. doi: 10.1016/j.atherosclerosis.2017.01.022. Epub 2017 Jan 19.


ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD.

J Exp Med. 2017 Mar 6;214(3):669-680. doi: 10.1084/jem.20161435. Epub 2017 Jan 26. Erratum in: J Exp Med. 2017 Apr 3;214(4):1201.


Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ.

J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4. No abstract available.


Therapeutic drug monitoring of posaconazole oral suspension in paediatric patients younger than 13 years of age: a retrospective analysis and literature review.

Jancel T, Shaw PA, Hallahan CW, Kim T, Freeman AF, Holland SM, Penzak SR.

J Clin Pharm Ther. 2017 Feb;42(1):75-79. doi: 10.1111/jcpt.12483. Epub 2016 Dec 16.


Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.

Ma CA, Xi L, Cauff B, DeZure A, Freeman AF, Hambleton S, Kleiner G, Leahy TR, O'Sullivan M, Makiya M, O'Regan G, Pittaluga S, Niemela J, Stoddard J, Rosenzweig SD, Raffeld M, Klion AD, Milner JD.

Blood. 2017 Feb 2;129(5):650-653. doi: 10.1182/blood-2016-09-737817. Epub 2016 Dec 12. No abstract available.


Resolution of Multifocal Epstein-Barr Virus-Related Smooth Muscle Tumor in a Patient with GATA2 Deficiency Following Hematopoietic Stem Cell Transplantation.

Parta M, Cuellar-Rodriguez J, Freeman AF, Gea-Banacloche J, Holland SM, Hickstein DD.

J Clin Immunol. 2017 Jan;37(1):61-66. doi: 10.1007/s10875-016-0360-8. Epub 2016 Dec 6.


Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.

Dimitrova D, Freeman AF.

Dermatol Clin. 2017 Jan;35(1):11-19. doi: 10.1016/j.det.2016.07.002. Review.


Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.

Kuhns DB, Fink DL, Choi U, Sweeney C, Lau K, Priel DL, Riva D, Mendez L, Uzel G, Freeman AF, Olivier KN, Anderson VL, Currens R, Mackley V, Kang A, Al-Adeli M, Mace E, Orange JS, Kang E, Lockett SJ, Chen, Steinbach PJ, Hsu AP, Zarember KA, Malech HL, Gallin JI, Holland SM.

Blood. 2016 Oct 27;128(17):2135-2143. Epub 2016 Aug 24.


Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.

Rieber N, Gazendam RP, Freeman AF, Hsu AP, Collar AL, Sugui JA, Drummond RA, Rongkavilit C, Hoffman K, Henderson C, Clark L, Mezger M, Swamydas M, Engeholm M, Schüle R, Neumayer B, Ebel F, Mikelis CM, Pittaluga S, Prasad VK, Singh A, Milner JD, Williams KW, Lim JK, Kwon-Chung KJ, Holland SM, Hartl D, Kuijpers TW, Lionakis MS.

JCI Insight. 2016 Oct 20;1(17):e89890. doi: 10.1172/jci.insight.89890.


Haploidentical related donor hematopoietic stem cell transplantation with post-transplantation cyclophosphamide for DOCK8 deficiency.

Freeman AF, Shah NN, Parta M, Su HC, Brofferio A, Gradus-Pizlo I, Butty S, Hughes TE, Kleiner DE, Avila D, Heller T, Kong HH, Holland SM, Hickstein DD.

J Allergy Clin Immunol Pract. 2016 Nov - Dec;4(6):1239-1242.e1. doi: 10.1016/j.jaip.2016.06.028. Epub 2016 Sep 15. No abstract available.


Mediastinal and Disseminated Mycobacterium kansasii Disease in GATA2 Deficiency.

Lovell JP, Zerbe CS, Olivier KN, Claypool RJ, Frein C, Anderson VL, Freeman AF, Holland SM.

Ann Am Thorac Soc. 2016 Dec;13(12):2169-2173.

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