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review of innate and adaptive immunity to coccidioidomycosis.
Published in:
Medical Mycology, 2019, v. 57, p. S85, doi. 10.1093/mmy/myy146
By:
- Hung, Chiung-Yu;
- Hsu, Amy P;
- Holland, Steven M;
- Fierer, Joshua
Publication type:
Article
Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey.
Published in:
Pediatric & Developmental Pathology, 2015, v. 18, n. 5, p. 387, doi. 10.2350/15-05-1631-OA.1
By:
- HUPPMANN, ALISON R.;
- LEIDING, JENNIFER W.;
- HSU, AMY P.;
- RAFFELD, MARK;
- UZEL, GULBU;
- PITTALUGA, STEFANIA;
- HOLLAND, STEVEN M.
Publication type:
Article
Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.
Published in:
Open Forum Infectious Diseases, 2017, v. 4, n. 4, p. N.PAG, doi. 10.1093/ofid/ofx202
By:
- Zimmerman, Ofer;
- Rösler, Berenice;
- Zerbe, Christa S;
- Rosen, Lindsey B;
- Hsu, Amy P;
- Uzel, Gulbu;
- Freeman, Alexandra F;
- Sampaio, Elizabeth P;
- Rosenzweig, Sergio D;
- Kuehn, Hye Sun
Publication type:
Article
Colitis susceptibility in p47<sup>phox-/-</sup> mice is mediated by the microbiome.
Published in:
Microbiome, 2016, v. 4, p. 1, doi. 10.1186/s40168-016-0159-0
By:
- Falcone, E. Liana;
- Abusleme, Loreto;
- Swamydas, Muthulekha;
- Lionakis, Michail S.;
- Li Ding;
- Hsu, Amy P.;
- Zelazny, Adrian M.;
- Moutsopoulos, Niki M.;
- Kuhns, Douglas B.;
- Deming, Clay;
- Quiñones, Mariam;
- Segre, Julia A.;
- Bryant, Clare E.;
- Holland, Steven M.
Publication type:
Article
Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 10, p. 1, doi. 10.1172/JCI61623
By:
- Johnson, Kirby D.;
- Hsu, Amy P.;
- Myung-Jeom Ryu;
- Jinyong Wang;
- Xin Gao;
- Boyer, Meghan E.;
- Yangang Liu;
- Youngsook Lee;
- Calvo, Katherine R.;
- Keles, Sunduz;
- Jing Zhang;
- Holland, Steven M.;
- Bresnick, Emery H.
Publication type:
Article
Vaccine Protection of Mice With Primary Immunodeficiencies Against Disseminated Coccidioidomycosis.
Published in:
Frontiers in Cellular & Infection Microbiology, 2022, v. 11, p. 1, doi. 10.3389/fcimb.2021.790488
By:
- Powell, Daniel A.;
- Hsu, Amy P.;
- Butkiewicz, Christine D.;
- Trinh, Hien T.;
- Frelinger, Jeffrey A.;
- Holland, Steven M.;
- Galgiani, John N.;
- Shubitz, Lisa F.
Publication type:
Article
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.
Published in:
Journal of Human Genetics, 2006, v. 51, n. 5, p. 495, doi. 10.1007/s10038-006-0386-5
By:
- Kellermayer, Richard;
- Hsu, Amy P.;
- Stankovics, József;
- Balogh, Péter;
- Hadzsiev, Kinga;
- Vojcek, Ágnes;
- Maródi, László;
- Kajtár, Pál;
- Kosztolányi, György;
- Puck, Jennifer M.
Publication type:
Article
Donor source and post‐transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.
Published in:
British Journal of Haematology, 2022, v. 196, n. 1, p. 169, doi. 10.1111/bjh.17840
By:
- Nichols‐Vinueza, Diana X.;
- Parta, Mark;
- Shah, Nirali N.;
- Cuellar‐Rodriguez, Jennifer M.;
- Bauer, Thomas R.;
- West, Robert R.;
- Hsu, Amy P.;
- Calvo, Katherine R.;
- Steinberg, Seth M.;
- Notarangelo, Luigi D.;
- Holland, Steven M.;
- Hickstein, Dennis D.
Publication type:
Article
GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.
Published in:
British Journal of Haematology, 2020, v. 188, n. 5, p. 768, doi. 10.1111/bjh.16247
By:
- Bogaert, Delfien J.;
- Laureys, Genevieve;
- Naesens, Leslie;
- Mazure, Dominiek;
- De Bruyne, Marieke;
- Hsu, Amy P.;
- Bordon, Victoria;
- Wouters, Erik;
- Tavernier, Simon J.;
- Lambrecht, Bart N.;
- De Baere, Elfride;
- Haerynck, Filomeen;
- Kerre, Tessa
Publication type:
Article
West Nile virus encephalitis in GATA2 deficiency.
Published in:
Allergy, Asthma & Clinical Immunology, 2019, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13223-019-0321-x
By:
- Rosa, Jaime S.;
- Kappagoda, Shanthi;
- Hsu, Amy P.;
- Davis, Joie;
- Holland, Steven M.;
- Liu, Anne Y.
Publication type:
Article
Pulmonary Nontuberculous Mycobacterial Infection: A multisystem multigenic disease.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2015, v. 192, n. 5, p. E1, doi. 10.1164/rccm.201502-0387oc
By:
- Szymanski, Eva P.;
- Leung, Janice M.;
- Fowler, Cedar J.;
- Haney, Carissa;
- Hsu, Amy P.;
- Fei Chen;
- Duggal, Priya;
- Oler, Andrew J.;
- McCormack, Ryan;
- Podack, Eckhard;
- Drummond, Rebecca A.;
- Lionakis, Michail S.;
- Browne, Sarah K.;
- Prevots, D. Rebecca;
- Knowles, Michael;
- Cutting, Gary;
- Xinyue Liu;
- Devine, Scott E.;
- Fraser, Claire M.;
- Tettelin, Hervé
Publication type:
Article
Pulmonary Nontuberculous Mycobacterial Infection.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2015, v. 192, n. 5, p. 618, doi. 10.1164/rccm.201502-0387OC
By:
- Szymanski, Eva P.;
- Leung, Janice M.;
- Fowler, Cedar J.;
- Haney, Carissa;
- Hsu, Amy P.;
- Fei Chen;
- Duggal, Priya;
- Oler, Andrew J.;
- McCormack, Ryan;
- Podack, Eckhard;
- Drummond, Rebecca A.;
- Lionakis, Michail S.;
- Browne, Sarah K.;
- Prevots, D. Rebecca;
- Knowles, Michael;
- Cutting, Gary;
- Xinyue Liu;
- Devine, Scott E.;
- Fraser, Claire M.;
- Tettelin, Hervé
Publication type:
Article
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Published in:
Human Genetics, 2006, v. 119, n. 3, p. 284, doi. 10.1007/s00439-006-0138-9
By:
- Shigui Zhu;
- Hsu, Amy P.;
- Vacek, Marla M.;
- Lixin Zheng;
- Schäffer, Alejandro A.;
- Dale, Janet K.;
- Davis, Joie;
- Fischer, Roxanne E.;
- Straus, Stephen E.;
- Boruchov, Donna;
- Saulsbury, Frank T.;
- Lenardo, Michael J.;
- Puck, Jennifer M.
Publication type:
Article
623 - Topical steroid withdrawal is a targetable overproduction of nicotinic acid from mitochondrial complex I overexpression.
Published in:
British Journal of Dermatology, 2024, v. 191, p. 1, doi. 10.1093/bjd/ljae266.007
By:
- Shobnam, Nadia;
- Ratley, Grace;
- Saksena, Sarini;
- Yadav, Manoj;
- Chaudhary, Prem Prashant;
- Sun, Ashleigh A;
- Howe, Katherine N;
- Gadkari, Manasi;
- Franco, Luis M;
- Ganesan, Sundar;
- McCann, Katelyn J;
- Hsu, Amy P;
- Kanakabandi, Kishore;
- Ricklefs, Stacy;
- Lack, Justin;
- Yu, Weiming;
- Similuk, Morgan;
- Walkiewicz, Magdalena A;
- Program, for the NIAID Centralized Sequencing;
- Gardner, Donna D
Publication type:
Article
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.
Published in:
Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01433
By:
- Zimmerman, Ofer;
- Olbrich, Peter;
- Freeman, Alexandra F.;
- Rosen, Lindsey B.;
- Uzel, Gulbu;
- Zerbe, Christa S.;
- Rosenzweig, Sergio D.;
- Kuehn, Hye Sun;
- Holmes, Kevin L.;
- Stephany, David;
- Ding, Li;
- Sampaio, Elizabeth P.;
- Hsu, Amy P.;
- Holland, Steven M.
Publication type:
Article
Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.
Published in:
Cancer Medicine, 2015, v. 4, n. 4, p. 490, doi. 10.1002/cam4.384
By:
- Mir, Muhammad A.;
- Kochuparambil, Samith T.;
- Abraham, Roshini S.;
- Rodriguez, Vilmarie;
- Howard, Matthew;
- Hsu, Amy P.;
- Jackson, Amie E.;
- Holland, Steven M.;
- Patnaik, Mrinal M.
Publication type:
Article
A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64852-1
By:
- Amarnani, Abhimanyu A.;
- Poladian, Katlin R.;
- Marciano, Beatriz E.;
- Daub, Janine R.;
- Williams, Sandra G.;
- Livinski, Alicia A.;
- Hsu, Amy P.;
- Palmer, Cindy L.;
- Kenney, Cara M.;
- Avila, Daniele N.;
- Holland, Steven M.;
- Katz, James D.
Publication type:
Article
Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.
Published in:
Clinical Case Reports, 2017, v. 5, n. 12, p. 2066, doi. 10.1002/ccr3.1257
By:
- Moraes‐Fontes, Maria Francisca;
- Hsu, Amy P.;
- Caramalho, Iris;
- Martins, Catarina;
- Araújo, Ana Carolina;
- Lourenço, Filipa;
- Taulaigo, Anna V.;
- Lladó, Ana;
- Holland, Steven M.;
- Uzel, Gulbu
Publication type:
Article
Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.
Published in:
Clinical & Experimental Immunology, 2023, v. 212, n. 2, p. 137, doi. 10.1093/cei/uxad001
By:
- Hsu, Amy P
Publication type:
Article
Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance.
Published in:
Science Translational Medicine, 2019, v. 11, n. 495, p. N.PAG, doi. 10.1126/scitranslmed.aav5597
By:
- Ferré, Elise M. N.;
- Break, Timothy J.;
- Burbelo, Peter D.;
- Allgäuer, Michael;
- Kleiner, David E.;
- Jin, Dakai;
- Xu, Ziyue;
- Folio, Les R.;
- Mollura, Daniel J.;
- Swamydas, Muthulekha;
- Gu, Wenjuan;
- Hunsberger, Sally;
- Lee, Chyi-Chia R.;
- Bondici, Anamaria;
- Hoffman, Kevin W.;
- Lim, Jean K.;
- Dobbs, Kerry;
- Niemela, Julie E.;
- Fleisher, Thomas A.;
- Hsu, Amy P.
Publication type:
Article
Differing Interpretations of RAC2 p.G15D Function.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 910, doi. 10.1007/s10875-023-01471-1
By:
- Hsu, Amy P.
Publication type:
Article
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1580, doi. 10.1007/s10875-022-01280-y
By:
- Hashem, Hasan;
- Bucciol, Giorgia;
- Ozen, Seza;
- Unal, Sule;
- Bozkaya, Ikbal Ok;
- Akarsu, Nurten;
- Taskinen, Mervi;
- Koskenvuo, Minna;
- Saarela, Janna;
- Dimitrova, Dimana;
- Hickstein, Dennis D.;
- Hsu, Amy P.;
- Holland, Steven M.;
- Krance, Robert;
- Sasa, Ghadir;
- Kumar, Ashish R.;
- Müller, Ingo;
- de Sousa, Monica Abreu;
- Delafontaine, Selket;
- Moens, Leen
Publication type:
Article
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 7, p. 1633, doi. 10.1007/s10875-021-01098-0
By:
- Hashem, Hasan;
- Bucciol, Giorgia;
- Ozen, Seza;
- Unal, Sule;
- Bozkaya, Ikbal Ok;
- Akarsu, Nurten;
- Taskinen, Mervi;
- Koskenvuo, Minna;
- Saarela, Janna;
- Dimitrova, Dimana;
- Hickstein, Dennis D.;
- Hsu, Amy P.;
- Holland, Steven M.;
- Krance, Robert;
- Sasa, Ghadir;
- Kumar, Ashish R.;
- Müller, Ingo;
- de Sousa, Monica Abreu;
- Delafontaine, Selket;
- Moens, Leen
Publication type:
Article
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.
Published in:
2021
By:
- Stern, Heather;
- Donkó, Agnes;
- Shapiro, Teresa;
- Hsu, Amy P.;
- Leto, Thomas L.;
- Holland, Steven M.;
- Andreae, Doerthe Adriana
Publication type:
Letter
MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation.
Published in:
Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 4, doi. 10.1007/s10875-018-0576-x
By:
- Moraes-Fontes, Maria Francisca;
- Caramalho, Íris;
- Hsu, Amy P.;
- Holland, Steven M.;
- Abecasis, Manuel
Publication type:
Article
IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.
Published in:
Clinical Infectious Diseases, 2018, v. 67, n. 3, p. 456, doi. 10.1093/cid/ciy186
By:
- Hsu, Amy P;
- Zerbe, Christa S;
- Foruraghi, Ladan;
- Iovine, Nicole M;
- Leiding, Jennifer W;
- Mushatt, David M;
- Wild, Laurianne;
- Kuhns, Douglas B;
- Holland, Steven M
Publication type:
Article
Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers.
Published in:
Clinical Infectious Diseases, 2016, v. 63, n. 1, p. 41, doi. 10.1093/cid/ciw160
By:
- Cohen, Jeffrey I.;
- Dropulic, Lesia;
- Hsu, Amy P.;
- Zerbe, Christa S.;
- Krogmann, Tammy;
- Dowdell, Kennichi;
- Hornung, Ronald L.;
- Lovell, Jana;
- Hardy, Nancy;
- Hickstein, Dennis;
- Cowen, Edward W.;
- Calvo, Katherine R.;
- Pittaluga, Stefania;
- Holland, Steven M.
Publication type:
Article
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
Published in:
Clinical Infectious Diseases, 2016, v. 62, n. 8, p. 986, doi. 10.1093/cid/civ1220
By:
- Zerbe, Christa S.;
- Marciano, Beatriz E.;
- Katial, Rohit K.;
- Santos, Carah B.;
- Adamo, Nick;
- Hsu, Amy P.;
- Hanks, Mary E.;
- Darnell, Dirk N.;
- Quezado, Martha M.;
- Frein, Cathleen;
- Barnhart, Lisa A.;
- Anderson, Victoria L.;
- Uzel, Gulbu;
- Freeman, Alexandra F.;
- Lisco, Andrea;
- Nath, Avindra;
- Major, Eugene O.;
- Sampaio, Elizabeth P.;
- Holland, Steven M.
Publication type:
Article
MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature.
Published in:
Clinical Infectious Diseases, 2013, v. 57, n. 5, p. 697, doi. 10.1093/cid/cit368
By:
- Camargo, Jose F.;
- Lobo, Stephen A.;
- Hsu, Amy P.;
- Zerbe, Christa S.;
- Wormser, Gary P.;
- Holland, Steven M.
Publication type:
Article
CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System.
Published in:
PLoS Pathogens, 2015, v. 11, n. 12, p. 1, doi. 10.1371/journal.ppat.1005293
By:
- Drummond, Rebecca A.;
- Collar, Amanda L.;
- Swamydas, Muthulekha;
- Rodriguez, Carlos A.;
- Lim, Jean K.;
- Mendez, Laura M.;
- Fink, Danielle L.;
- Hsu, Amy P.;
- Zhai, Bing;
- Karauzum, Hatice;
- Mikelis, Constantinos M.;
- Rose, Stacey R.;
- Ferre, Elise M. N.;
- Yockey, Lynne;
- Lemberg, Kimberly;
- Kuehn, Hye Sun;
- Rosenzweig, Sergio D.;
- Lin, Xin;
- Chittiboina, Prashant;
- Datta, Sandip K.
Publication type:
Article
Case Report: Profound newborn leukopenia related to a novel RAC2 variant.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1365187
By:
- Hall, Geoffrey;
- Donkó, Ágnes;
- Pratt, Cristina;
- Kim-Chang, Julie J.;
- Martin, Paul L.;
- Stallings, Amy P.;
- Sleasman, John W.;
- Holland, Steven M.;
- Hsu, Amy P.;
- Leto, Thomas L.;
- Mousallem, Talal
Publication type:
Article
The Known and Unknown "Knowns" of Human Susceptibility to Coccidioidomycosis.
Published in:
Journal of Fungi, 2024, v. 10, n. 4, p. 256, doi. 10.3390/jof10040256
By:
- Hsu, Amy P.
Publication type:
Article
Genetic and Other Determinants for the Severity of Coccidioidomycosis: A Clinician's Perspective.
Published in:
Journal of Fungi, 2023, v. 9, n. 5, p. 554, doi. 10.3390/jof9050554
By:
- Galgiani, John N.;
- Hsu, Amy P.;
- Powell, Daniel A.;
- Vyas, Jatin M.;
- Holland, Steven M.
Publication type:
Article
Reactivation of Coccidioidomycosis in a Mouse Model of Asymptomatic Controlled Disease.
Published in:
Journal of Fungi, 2022, v. 8, n. 10, p. 991, doi. 10.3390/jof8100991
By:
- Shubitz, Lisa F.;
- Powell, Daniel A.;
- Dial, Sharon M.;
- Butkiewicz, Christine D.;
- Trinh, Hien T.;
- Hsu, Amy P.;
- Buntzman, Adam;
- Frelinger, Jeffrey A.;
- Galgiani, John N.
Publication type:
Article
A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Published in:
Science Translational Medicine, 2024, v. 16, n. 765, p. 1, doi. 10.1126/scitranslmed.adk0845
By:
- Ochoa, Sebastian;
- Hsu, Amy P.;
- Oler, Andrew J.;
- Kumar, Dhaneshwar;
- Chauss, Daniel;
- van Hamburg, Jan Piet;
- van Laar, Gustaaf G.;
- Oikonomou, Vasileios;
- Ganesan, Sundar;
- Ferré, Elise M. N.;
- Schmitt, Monica M.;
- DiMaggio, Tom;
- Barber, Princess;
- Constantine, Gregory M.;
- Rosen, Lindsey B.;
- Auwaerter, Paul G.;
- Gandhi, Bhumika;
- Miller, Jennifer L.;
- Eisenberg, Rachel;
- Rubinstein, Arye
Publication type:
Article
Melanoma in patients with GATA2 deficiency.
Published in:
Pigment Cell & Melanoma Research, 2018, v. 31, n. 2, p. 337, doi. 10.1111/pcmr.12671
By:
- Nguyen, Jannett;
- Alexander, Tiffany;
- Jiang, Hong;
- Hill, Natasha;
- Abdullaev, Zied;
- Pack, Svetlana D.;
- Hsu, Amy P.;
- Holland, Steven M.;
- Hickstein, Dennis D.;
- Engels, Eric A.;
- Brownell, Isaac
Publication type:
Article
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
Published in:
2021
By:
- Lisco, Andrea;
- Ye, Peying;
- Wong, Chun-Shu;
- Pei, Luxin;
- Hsu, Amy P;
- Mace, Emily M;
- Orange, Jordan S;
- Lage, Silvia Lucena;
- Ward, Addison Jon;
- Migueles, Stephen A;
- Connors, Mark;
- Anderson, Megan V;
- Buckner, Clarisa M;
- Moir, Susan;
- Rupert, Adam;
- Dulau-Florea, Alina;
- Ogbogu, Princess;
- Timberlake, Dylan;
- Notarangelo, Luigi D;
- Pittaluga, Stefania
Publication type:
journal article
Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways.
Published in:
2020
By:
- Howe, Matthew K;
- Dowdell, Kennichi;
- Kuehn, Hye Sun;
- Li, Qingxue;
- Hart, Geoffrey T;
- Garabedian, Doreen;
- Liepshutz, Kelly;
- Hsu, Amy P;
- Su, Hua;
- Niemela, Julie E;
- Stoddard, Jennifer L;
- Uzel, Gulbu;
- Shereck, Evan;
- Schulz, Laura;
- Feldman, Tatyana;
- Rosenzweig, Sergio D;
- Long, Eric O;
- Dropulic, Lesia;
- Cohen, Jeffrey I
Publication type:
journal article
Interleukin-12 Receptor β1 Deficiency Predisposing to Disseminated Coccidioidomycosis.
Published in:
Clinical Infectious Diseases, 2011, v. 52, n. 4, p. e99, doi. 10.1093/cid/ciq215
By:
- Vinh, Donald C.;
- Schwartz, Brian;
- Hsu, Amy P.;
- Miranda, David J.;
- Valdez, Patricia A.;
- Fink, Danielle;
- Lau, Karen P.;
- Long-Priel, Debra;
- Kuhns, Douglas B.;
- Uzel, Gulbu;
- Pittaluga, Stefania;
- Hoover, Susan;
- Galgiani, John N.;
- Holland, Steven M.
Publication type:
Article

Found: 39