A. Freeman

发表

Immune deficiencies, infection, and systemic immune disordersDominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

J. Yim, S. Holland, T. Torgerson, 2013 .

Combined immunodeficiency associated with DOCK8 mutations.

S. Holland, Joie Davis, M. Turner, 2009, The New England journal of medicine.

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

M. Raffeld, S. Pittaluga, S. Holland, 2015, Journal of Clinical Immunology.

Mucormycosis in chronic granulomatous disease: association with iatrogenic immunosuppression.

S. Holland, D. Vinh, A. Freeman, 2009, The Journal of allergy and clinical immunology.

DOCK8 is essential for T‐cell survival and the maintenance of CD8+ T‐cell memory

J. Cyster, A. Freeman, H. Su, 2011, European journal of immunology.

Prevention and management of infections

S. Holland, A. Freeman, 2020, Stiehm's Immune Deficiencies.

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

J. Hughes, J. McElwee, J. Lyons, 2017, The Journal of experimental medicine.

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

J. Hughes, J. McElwee, Yuan Zhang, 2017, The Journal of experimental medicine.

Antimicrobial prophylaxis for primary immunodeficiencies

S. Holland, A. Freeman, 2009, Current opinion in allergy and clinical immunology.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

A. Schäffer, V. Lougaris, R. Geha, 2015, The Journal of allergy and clinical immunology.

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

J. Orange, R. Geha, J. Chou, 2013, The Journal of allergy and clinical immunology.

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.

R. Geha, S. Holland, D. Douek, 2014, The Journal of allergy and clinical immunology.

Mediastinal and Disseminated Mycobacterium kansasii Disease in GATA2 Deficiency.

S. Holland, C. Zerbe, A. Freeman, 2016, Annals of the American Thoracic Society.

Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

Thomas E. Hughes, S. Holland, C. Zerbe, 2014, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Pulmonary nontuberculous mycobacterial infections in hyper-IgE syndrome.

S. Holland, A. Hsu, A. Freeman, 2009, The Journal of allergy and clinical immunology.

2015 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference

S. Kingsmore, N. Miller, E. Farrow, 2015, Journal of Clinical Immunology.

Anti-CD20 (rituximab) therapy for anti-IFN-γ autoantibody-associated nontuberculous mycobacterial infection.

S. Holland, E. Sampaio, Lindsey B. Rosen, 2012, Blood.

A 17-year old patient with DOCK8 deficiency, severe oral HSV-1 and aggressive periodontitis - a case of virally induced periodontitis?

S. Pittaluga, G. Fahle, A. Freeman, 2015, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

Brain Abnormalities in Patients With Hyperimmunoglobulin E Syndrome

S. Holland, J. Puck, N. Patronas, 2007, Pediatrics.

Genetic causes of bronchiectasis.

A. Freeman, K. Olivier, C. Gould, 2012, Clinics in chest medicine.

Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome.

A. Arai, S. Holland, R. Lederman, 2007, Clinical immunology.

Angiogenesis in Fatal Acute Kawasaki Disease Coronary Artery and Myocardium

A. Freeman, S. Crawford, S. Shulman, 2005, Pediatric Cardiology.

The new england journal of medicine Combined Immunodeficiency Associated with DOCK 8 Mutations

S. Holland, Joie Davis, M. Turner, 2009 .

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

M. Netea, S. Holland, S. Rosenzweig, 2017, Open forum infectious diseases.

Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations

S. Holland, A. Freeman, J. Lynch, 2022, Journal of Neurology.

Tissue specific diversification, virulence and immune response to Mycobacterium bovis BCG in a patient with an IFN-γ R1 deficiency

H. Tettelin, S. Shallom, S. Holland, 2020, Virulence.

with primary immunodeficiencies The altered landscape of the human skin microbiome in patients Material

Julia Oh, H. Kong, J. Segre, 2013 .

Migration-induced cell shattering due to DOCK8 deficiency causes a type 2–biased helper T cell response

Judith N. Mandl, Irah L. King, D. Barber, 2020, Nature Immunology.

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

W. Leonard, Jangsuk Oh, M. Kazemian, 2019, eLife.

Interferon Alpha Treatment of Patients with Impaired Interferon Gamma Signaling

E. Sampaio, A. Hsu, J. Pechacek, 2013, Journal of Clinical Immunology.

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.

S. Holland, J. Puck, Joie Davis, 2013, The Journal of allergy and clinical immunology.

Antimicrobial Susceptibilities of Invasive Pediatric Abiotrophia and Granulicatella Isolates

A. Freeman, S. Shulman, D. Shortridge, 2004, Journal of Clinical Microbiology.

The use of 14C-FIAU to predict bacterial thymidine kinase presence: implications for radiolabeled FIAU bacterial imaging.

R. Pettigrew, S. Holland, D. Hammoud, 2013, Nuclear medicine and biology.

An Update on Syndromes with a Hyper-IgE Phenotype.

A. Freeman, J. Bergerson, 2019, Immunology and allergy clinics of North America.

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

A. Freeman, D. Dimitrova, 2017, Dermatologic clinics.

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

J. Hughes, J. McElwee, D. Reich, 2014, The Journal of allergy and clinical immunology.

Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

J. Hughes, J. McElwee, S. Holland, 2014 .

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

S. Holland, A. Hsu, C. Zerbe, 2011, Blood.

Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3

S. Holland, Michelle L. Paulson, A. Freeman, 2008, Current opinion in allergy and clinical immunology.

Pathogenesis of Hyper IgE Syndrome

S. Holland, A. Freeman, J. Heimall, 2010, Clinical reviews in allergy & immunology.

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

M. Raffeld, S. Pittaluga, S. Rosenzweig, 2017, Blood.

Dominant gain-of-function STAT1 mutations in FOXP3 WT IPEX-like Syndrome

Anahita, J. Yim, S. Holland, 2013 .

HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions

A. Freeman, M. Lenardo, Sarah A. Cook, 2022, Journal of Clinical Immunology.

An update on the hyper-IgE syndromes

S. Holland, J. Puck, A. Freeman, 2012, Arthritis Research & Therapy.

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

A. Freeman, 2018, Journal of the Pediatric Infectious Diseases Society.

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

A. Freeman, 2018, Journal of the Pediatric Infectious Diseases Society.

Intrathoracic nontuberculous mycobacterial infections in otherwise healthy children

S. Holland, D. Kuhns, A. Freeman, 2009, Pediatric pulmonology.

The genomic landscape of rare disorders in the Middle East

A. Alsheikh-Ali, A. Freeman, Arif O. Khan, 2022, Genome Medicine.

Cutaneous manifestations of DOCK8 deficiency syndrome.

S. Holland, Joie Davis, M. Turner, 2012, Archives of dermatology.

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

Yuan Zhang, J. Milner, A. Freeman, 2019, The Journal of allergy and clinical immunology.

TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome

S. Holland, A. Laurence, D. Kuhns, 2018, The Journal of clinical investigation.

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

A. Freeman, I. Sastalla, S. Datta, 2017, Pathogens.

Causes of death in hyper-IgE syndrome.

S. Holland, J. Puck, Joie Davis, 2007, The Journal of allergy and clinical immunology.

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

S. Holland, E. Sampaio, A. Hsu, 2016, The Journal of allergy and clinical immunology.

Clinical Manifestations, Etiology, and Pathogenesis of the Hyper-IgE Syndromes

S. Holland, A. Freeman, 2009, Pediatric Research.

Recent developments in Kawasaki disease

A. Freeman, S. Shulman, 2001, Current Opinion in Infectious Diseases.

STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions

A. Gennery, A. Freeman, C. Tsilifis, 2021, Journal of Clinical Immunology.

Malignancy in STAT3 Deficient Hyper IgE Syndrome

S. Pittaluga, A. Freeman, A. Urban, 2022, Journal of clinical immunology.

The Child with Elevated IgE and Infection Susceptibility

J. Milner, A. Freeman, 2020, Current Allergy and Asthma Reports.

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

C. Cunningham-Rundles, S. Holland, H. Ochs, 2017, The journal of allergy and clinical immunology. In practice.

Hyper-IgE Syndromes and the Lung.

A. Freeman, K. Olivier, 2016, Clinics in chest medicine.

Hyper‐IgE syndrome update

S. Holland, A. Freeman, K. Sowerwine, 2012, Annals of the New York Academy of Sciences.

Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations.

S. Holland, A. Freeman, D. Domingo, 2009, Oral diseases.

Hyper IgE syndrome: review and future directions

S. Holland, A. Freeman, 2005, Expert review of clinical immunology.

DOCK8 is critical for the survival and function of NKT cells.

Joanne M. Smart, S. Tangye, H. Lockstone, 2013, Blood.

Chronic granulomatous disease presenting with eosinophilic inflammation.

A. Freeman, P. Jaggi, B. Katz, 2005, The Pediatric infectious disease journal.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations

S. Holland, A. Freeman, J. Lynch, 2022, Journal of Neurology.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients inactivating mutations in DOCK8 cause a combined immunodeficiency characterized by severe pathogen infections,

J. Casanova, J. Ziegler, S. Choo, 2019 .

Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations

J. Milner, A. Freeman, M. Lionakis, 2022, Journal of Clinical Immunology.

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

Yuan Zhang, S. Holland, D. Barber, 2017, The Journal of experimental medicine.

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

A. Freeman, T. Nutman, A. Lin, 2018, ImmunoHorizons.

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

J. Walter, J. Church, M. Varjosalo, 2022, Frontiers in Immunology.

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.

Katja G. Weinacht, L. Notarangelo, S. Holland, 2020, Blood advances.

Prevention and management of infections

S. Holland, A. Freeman, 2020, Stiehm's Immune Deficiencies.

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

Andrew J. Oler, Smita Y. Patel, Ivan K. Chinn, 2019, The Journal of allergy and clinical immunology.

Drug–drug interaction between isavuconazole and tacrolimus: a case report indicating the need for tacrolimus drug‐level monitoring

A. Freeman, T. Kim, T. Jancel, 2015, Journal of clinical pharmacy and therapeutics.

A New Complication of Stem Cell Transplantation: Measles Inclusion Body Encephalitis

W. Bellini, A. Freeman, S. Shulman, 2004, Pediatrics.

Nontuberculous Mycobacteria

A. Freeman, K. Olivier, 2011, Pediatric Pulmonology.

Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells

J. Casanova, J. Orange, J. Ziegler, 2017, The Journal of allergy and clinical immunology.

DOCK 8-Deficient CD 4 + T Cells are Biased to a Th 2 Effector Fate at the Expense of Th 1 and Th 17 Cells

J. Ziegler, Joanne M. Smart, S. Tangye, 2016 .

Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis

Andrew J. Oler, S. Pittaluga, Y. Belkaid, 2022, The Journal of clinical investigation.

Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression.

M. Katze, S. Holland, D. Kastner, 2015, Cell host & microbe.

Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

S. Holland, E. Major, A. Nath, 2016, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Case Report: Fatal Complications of BK Virus-Hemorrhagic Cystitis and Severe Cytokine Release Syndrome Following BK Virus-Specific T-Cells

E. Levy, D. Kleiner, A. Freeman, 2021, Frontiers in Immunology.

Somatic reversion in DOCK8 immunodeficiency modulates disease phenotype

D. Lewis, Y. Zhang, R. Geha, 2014 .

Prospective study of a novel, radiation-free, reduced-intensity bone marrow transplantation platform for primary immunodeficiency diseases.

Stephanie N. Hicks, Thomas E. Hughes, S. Steinberg, 2020, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.

H. Kong, S. Holland, K. Stone, 2013, The Journal of allergy and clinical immunology.

Detection of molluscum contagiosum virus (MCV) DNA in the plasma of an immunocompromised patient and possible reduction of MCV DNA with CMX-001.

A. Freeman, J. Cohen, E. Cowen, 2012, The Journal of infectious diseases.

Persistent bacterial infections and primary immune disorders.

S. Holland, A. Freeman, 2007, Current opinion in microbiology.

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

M. Tang, K. Sullivan, S. Reda, 2017, Journal of Clinical Immunology.

Kawasaki disease: summary of the American Heart Association guidelines.

A. Freeman, S. Shulman, 2006, American family physician.

Inflammatory Pulmonary Nodules in Kawasaki Disease

A. Freeman, S. Crawford, S. Shulman, 2003, Pediatric Research.

Invasive aspergillosis due to Neosartorya udagawae.

S. Pittaluga, S. Holland, D. Kleiner, 2009, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Invasive fungal disease in autosomal-dominant hyper-IgE syndrome.

S. Holland, A. Hsu, D. Vinh, 2010, The Journal of allergy and clinical immunology.

Chronic Invasive Aspergillosis caused by Aspergillus viridinutans

S. Holland, D. Vinh, A. Freeman, 2009, Emerging infectious diseases.

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

S. Holland, C. Hallahan, A. Freeman, 2017, Journal of clinical pharmacy and therapeutics.

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

Y. Belkaid, G. Trinchieri, S. Holland, 2018, Science Translational Medicine.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Christina Lam, C. Ferreira, A. Freeman, 2021, Genetics in Medicine.

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

B. Lambrecht, A. Fischer, E. López-Granados, 2020, Journal of Allergy and Clinical Immunology.

Sixty-year-old man with slowly expanding nodular plaque on the thigh.

M. Turner, A. Freeman, E. Cowen, 2010, Journal of the American Academy of Dermatology.

Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

S. Holland, D. Kastner, M. Turner, 2012, Arthritis and rheumatism.

Anti–GM-CSF Autoantibodies in Patients with Cryptococcal Meningitis

S. Holland, Lindsey B. Rosen, S. Browne, 2013, The Journal of Immunology.

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

A. Schäffer, E. Gertz, A. Plebani, 2010, The Journal of allergy and clinical immunology.

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Adeline R. Whitney, Smita Y. Patel, Steven M Holland, 2010, Blood.

Pneumocystis jiroveci Infection in Patients With Hyper–Immunoglobulin E Syndrome

S. Holland, J. Puck, Joie Davis, 2005, Pediatrics.

Endemic Mycoses in Patients with STAT3 Mutated Hyperimmunoglobulin E (Job’s) Syndrome

S. Holland, D. Kleiner, A. Freeman, 2015 .

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

H. Kong, J. Segre, S. Holland, 2018, JCI insight.

The hyper-IgE syndromes.

Steven M. Holland, Alexandra F. Freeman, S. Holland, 2008, Immunology and allergy clinics of North America.

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

S. Holland, S. Rosenzweig, D. Kuhns, 2018, The Journal of allergy and clinical immunology.

Idiopathic CD4 lymphopenia

A. Freeman, I. Sereti, 2020, Stiehm's Immune Deficiencies.

Infections in the Immunocompromised Host

A. Freeman, J. Cuellar-Rodríguez, 2019, Clinical Immunology.

Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome

A. Freeman, O. Lortholary, M. Bougnoux, 2022, Journal of Clinical Immunology.

Corticosteroid therapy for liver abscess in chronic granulomatous disease.

S. Holland, A. Venkatesan, G. Uzel, 2012, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory.

S. Holland, D. Douek, J. Brenchley, 2011, Immunity.

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.

S. Pittaluga, R. Schüle, S. Holland, 2016, JCI insight.

The altered landscape of the human skin microbiome in patients with primary immunodeficiencies

Julia Oh, H. Kong, J. Segre, 2013, Genome research.

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

W. Paul, S. Holland, D. Douek, 2008, Nature.

STAT3 mutations in the hyper-IgE syndrome.

Bodo Grimbacher, Alejandro A Schäffer, Adeline R. Whitney, 2007, The New England journal of medicine.

1413. A Phase IIa Efficacy, Safety, Tolerability and Pharmacokinetic (PK) Study of Encochleated Amphotericin B in Patients with Mucocutaneous (Esophogeal, Oropharyngeal, Vulvovaginal) Candidiasis Who are Refractory or Intolerant to Standard Non-Intravenous Therapies

C. Lambros, A. Freeman, R. Mannino, 2018, Open Forum Infectious Diseases.

Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome.

S. Holland, D. Kleiner, A. Freeman, 2015, The Journal of allergy and clinical immunology.

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

S. Holland, D. Schmidt-Arras, S. Twigg, 2017, The Journal of experimental medicine.

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

J. Casanova, C. Picard, S. Holland, 2011, Human molecular genetics.

Characterization of autoantibodies, immunophenotype and autoimmune disease in a prospective cohort of patients with idiopathic CD4 lymphocytopenia.

A. Freeman, R. Siegel, C. Cudrici, 2021, Clinical immunology.

Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia.

J. Tsang, Quanzhen Li, A. Freeman, 2020, The Journal of clinical investigation.

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

Ivan K. Chinn, Matthew C. Altman, J. Orange, 2017, The Journal of allergy and clinical immunology.

Clinical Manifestations of Hyper IgE Syndromes

S. Holland, A. Freeman, 2010, Disease Markers.

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

J. Orange, A. Schulz, R. Geha, 2015, Journal of Clinical Immunology.

Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome

A. Gennery, A. Freeman, A. Choudhury, 2020, Frontiers in Pediatrics.

STAT3 Hyper IgE Syndrome

S. Holland, J. Puck, Joie Davis, 1993 .

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

M. Tang, K. Sullivan, S. Reda, 2017, Journal of Clinical Immunology.

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

S. Holland, D. Kuhns, G. Uzel, 2018, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Common severe infections in chronic granulomatous disease.

S. Holland, S. Rosenzweig, D. Kuhns, 2015, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

A Sri Lankan woman with rheumatoid arthritis and anesthetic plaques.

T. Palmore, A. Freeman, J. Sobanko, 2009, Journal of the American Academy of Dermatology.

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

J. Orange, S. Holland, C. Brewer, 2014, Blood.

HEMATOPOIESIS AND STEM CELLS GATA 2 de fi ciency : a protean disorder of hematopoiesis , lymphatics , and immunity

J. Orange, S. Holland, C. Brewer, 2014 .

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

J. Casanova, J. Ziegler, S. Choo, 2019, JCI insight.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8 2

J. Casanova, J. Ziegler, S. Choo, 2019 .

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK 8-deficient patients

J. Casanova, J. Ziegler, S. Choo, 2019 .

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.

Vanessa A Mackley, S. Lockett, J. Orange, 2016, Blood.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Eric O Long, K. Shianna, D. Goldstein, 2012, The New England journal of medicine.

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

Scott N. Mueller, Judith N. Mandl, R. Germain, 2014, The Journal of experimental medicine.

PHAGOCYTES , GRANULOCYTES , AND MYELOPOIESIS Cytoskeletal abnormalities and neutrophil dysfunction in WDR 1 de fi ciency

Vanessa A Mackley, S. Lockett, J. Orange, 2016 .

Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome

S. Holland, D. Kleiner, A. Venkatesan, 2017, Journal of Clinical Immunology.

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

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity

L. Notarangelo, S. Holland, K. Dobbs, 2021, Journal of Allergy and Clinical Immunology.

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

C. Cunningham-Rundles, S. Holland, T. Torgerson, 2018, The Journal of allergy and clinical immunology.

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

S. Holland, A. Freeman, D. Hickstein, 2016, Journal of Clinical Immunology.

STAT3 modulates reprogramming efficiency of human somatic cells; insights from autosomal dominant Hyper IgE syndrome caused by STAT3 mutations

S. Holland, A. Freeman, A. Walts, 2020, Biology Open.

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report

H. Kong, S. Pittaluga, Tetsuro Kobayashi, 2020, Nature Medicine.

Autocrine Vitamin D-signaling switches off pro-inflammatory programs of Th1 cells

Daniel S. Chertow, A. Laurence, N. Mehta, 2021, Nature immunology.

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Smita Y. Patel, Steven M Holland, M. Raffeld, 2011, Blood.

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

O. Sarig, Yuan Zhang, J. Walter, 2019, The Journal of allergy and clinical immunology.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

David R. Murdock, J. Rosenfeld, B. Lambrecht, 2020, The Journal of experimental medicine.

Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis.

V. Hox, S. Holland, D. Tweardy, 2016, The Journal of allergy and clinical immunology.

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

Andrew J. Oler, I. Vujkovic-Cvijin, Y. Belkaid, 2021, Nature Immunology.

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

M. Raffeld, S. Pittaluga, S. Holland, 2015, Journal of Clinical Immunology.

STAT1 and STAT3 mutations: important lessons for clinical immunologists

A. Freeman, P. Olbrich, 2018, Expert review of clinical immunology.

Signal Transducer and Activator of Transcription 3 Limits Epstein-Barr Virus Lytic Activation in B Lymphocytes

S. Tangye, P. Farrell, A. Freeman, 2013, Journal of Virology.

Autocrine vitamin D signaling switches off pro-inflammatory programs of TH1 cells

Daniel S. Chertow, A. Laurence, N. Mehta, 2021, Nature Immunology.

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

D. Kleiner, A. Freeman, C. Koh, 2022, Hepatology.

Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation.

J. Milner, A. Freeman, Kelli W. Williams, 2015, Immunology and allergy clinics of North America.

Corticosteroids in the treatment of severe nocardia pneumonia in chronic granulomatous disease.

S. Holland, G. Uzel, A. Freeman, 2011, The Pediatric infectious disease journal.

Is noma neonatorum a presentation of ecthyma gangrenosum in the newborn?

A. Freeman, R. Yogev, A. Mancini, 2002, The Pediatric infectious disease journal.

Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis.

A. Freeman, E. Cowen, D. Pichard, 2015, Journal of the American Academy of Dermatology.

Warts and DADA2: a Mere Coincidence?

Andrew J. Oler, C. Wouters, A. Freeman, 2018, Journal of Clinical Immunology.

WU Polyomavirus in Respiratory Epithelial Cells from Lung Transplant Patient with Job Syndrome

S. Holland, A. Freeman, C. Buck, 2015, Emerging infectious diseases.

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.

S. Holland, D. Kleiner, A. Freeman, 2019, Transplantation.

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

Thomas E. Hughes, H. Kong, A. Freeman, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Refractory Kawasaki Disease

A. Freeman, S. Shulman, 2004, The Pediatric infectious disease journal.

T-Cell Depletion in the Colonic Mucosa of Patients With Idiopathic CD4+ Lymphopenia.

W. Thompson, A. Freeman, J. Estes, 2015, The Journal of infectious diseases.

Depletion in the Colonic Mucosa of Patients With Idiopathic CD 4 + Lymphopenia

W. Thompson, A. Freeman, J. Estes, 2015 .

Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations

S. Pittaluga, S. Holland, M. Turner, 2010, Pediatrics.

Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.

A. Freeman, E. Cowen, D. Pichard, 2015, Journal of the American Academy of Dermatology.

Autosomal Dominant Hyper IgE Syndrome

S. Holland, J. Puck, Joie Davis, 2012, Encyclopedia of Medical Immunology.

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

O. Lichtarge, D. Tweardy, Panagiotis Katsonis, 2016, Blood.

Fungal Infections in Phagocytic Defects

S. Holland, A. Freeman, 2011 .

Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES).

S. Holland, Joie Davis, A. Hsu, 2011, Clinical immunology.

New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome

A. Freeman, S. Gaffen, O. Baker, 2011, Mucosal Immunology.

Immune deficiencies , infection , and systemic immune disorders Mutations in STAT 3 and diagnostic guidelines for hyper-IgE syndrome

A. Schäffer, A. Plebani, C. Pignata, 2010 .

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

A. Freeman, H. Su, Huie Jing, 2018, Immunological reviews.

Cryptosporidium infection in Dedicator of Cytokinesis 8 (DOCK 8) Deficiency.

D. Kleiner, A. Freeman, H. Su, 2020, The journal of allergy and clinical immunology. In practice.

Wiskott-Aldrich Syndrome (WAS) and Dedicator of Cytokinesis 8- (DOCK8) Deficiency

A. Freeman, M. Albert, 2019, Front. Pediatr..

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

Thomas E. Hughes, H. Kong, S. Holland, 2016, The journal of allergy and clinical immunology. In practice.

H. Kong, S. Holland, C. Bollard, 2015, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

J. Orange, A. Schulz, R. Geha, 2015, Journal of Clinical Immunology.

B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency

W. Wilson, S. Pittaluga, S. Holland, 2013, Journal of Clinical Immunology.

Human herpes 6 virus encephalitis complicating allogeneic hematopoietic stem cell transplantation

G. Fahle, A. Nath, A. Freeman, 2013, Neurology.

Daratumumab for delayed RBC engraftment following major ABO mismatched haploidentical bone marrow transplantation

R. Braylan, A. Freeman, B. Yates, 2021, Transfusion.

Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency

S. Pai, J. Whangbo, A. Freeman, 2022, Bone Marrow Transplantation.

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Carol J. Saunders, J. Casanova, C. Saunders, 2021, The Journal of experimental medicine.

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

S. Holland, P. Hanley, C. Cruz, 2019, Front. Immunol..

Pulmonary Manifestations of GATA2 Deficiency.

S. Holland, L. Folio, A. Hsu, 2021, Chest.

Warts and DADA2: a Mere Coincidence?

Andrew J. Oler, C. Wouters, A. Freeman, 2018, Journal of Clinical Immunology.

Lung Parenchyma Surgery in Autosomal Dominant Hyper-IgE Syndrome

S. Holland, Joie Davis, A. Hsu, 2013, Journal of Clinical Immunology.

Virologic Response Using Directly Observed Therapy in Adolescents With HIV: An Adherence Tool

A. Freeman, S. Zeichner, R. Hazra, 2008, The Journal of the Association of Nurses in AIDS Care : JANAC.

Streptococcus pneumoniae empyema necessitatis.

A. Freeman, T. Ben-Ami, Stanford T Shulman, 2004, The Pediatric infectious disease journal.

Impaired angiogenesis and extracellular matrix metabolism in Autosomal-Dominant Hyper-IgE Syndrome.

S. Holland, R. Knutsen, A. Hsu, 2020, The Journal of clinical investigation.

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

Khaled Z. Abd-Elmoniem, Khaled Z Abd-Elmoniem, Steven M Holland, 2017, Atherosclerosis.

Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome.

L. Dodd, S. Holland, A. Hsu, 2011, The Journal of allergy and clinical immunology.

Interferon Alpha Treatment of Patients with Impaired Interferon Gamma Signaling

E. Sampaio, A. Hsu, J. Pechacek, 2013, Journal of Clinical Immunology.

Expanded skin virome in DOCK8-deficient patients

C. Deming, S. Conlan, H. Kong, 2018, Nature Medicine.

Targeted IL-4Rα blockade ameliorates refractory allergic eosinophilic inflammation in a patient with dysregulated TGF-β signalling due to ERBIN deficiency.

J. Lyons, J. Milner, A. Freeman, 2022, The journal of allergy and clinical immunology. In practice.

An autocrine Vitamin D-driven Th1 shutdown program can be exploited for COVID-19

A. Laurence, N. Mehta, M. Kazemian, 2020, bioRxiv.

Clonally expanded &ggr;&dgr; T cells protect against Staphylococcus aureus skin reinfection

L. May, S. Holland, S. Simon, 2018, The Journal of clinical investigation.

STAT3 interrupts ATR-Chk1 signaling to allow oncovirus-mediated cell proliferation

S. Tangye, A. Freeman, Sumita Bhaduri-McIntosh, 2014, Proceedings of the National Academy of Sciences.

Ruxolitinib partially reverses functional NK cell deficiency in patients with STAT1 gain-of-function mutations

Ivan K. Chinn, Matthew C. Altman, J. Orange, 2017, bioRxiv.

Neurobehavioral Profiles in Individuals with Hyperimmunoglobulin E Syndrome (HIES) and Brain White Matter Hyperintensities

S. Holland, D. Hammoud, A. Freeman, 2013, Journal of Clinical Immunology.

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

J. Casanova, Joanne M. Smart, C. Picard, 2015, The Journal of experimental medicine.

Macrolide resistance in group A Streptococcus.

A. Freeman, S. Shulman, 2002, The Pediatric infectious disease journal.

An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease.

H. Kong, A. Freeman, E. Cowen, 2010, Journal of the American Academy of Dermatology.

Evaluation of Genotypic Antiviral Resistance Testing as an Alternative to Phenotypic Testing in a Patient with DOCK8 Deficiency and Severe HSV-1 Disease.

A. Casto, A. Freeman, R. Selvarangan, 2020, The Journal of infectious diseases.

Phenotypic and Genotypic Antiviral Resistance Testing of HSV-1 Causing Recurrent Cutaneous Lesions in a Patient with DOCK8 Deficiency

A. Casto, A. Freeman, R. Selvarangan, 2019, bioRxiv.

Issues in the diagnosis of Kawasaki disease

A. Freeman, S. Shulman, 2004 .

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

Andrew J. Oler, Yuan Zhang, S. Pittaluga, 2018, The Journal of allergy and clinical immunology.

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

J. Ziegler, A. Schulz, R. Geha, 2019, The journal of allergy and clinical immunology. In practice.

DOCK8 and STAT3 dependent inhibition of IgE isotype switching by TLR9 ligation in human B cells.

R. Geha, W. Al-Herz, T. Chatila, 2017, Clinical immunology.

Food allergies can persist after myeloablative hematopoietic stem cell transplantation in dedicator of cytokinesis 8-deficient patients.

J. Lyons, K. Stone, A. Freeman, 2016, The Journal of allergy and clinical immunology.

Acupuncture for symptom management in patients with hyper-IgE (Job's) syndrome.

S. Holland, A. Freeman, V. Anderson, 2011, Journal of alternative and complementary medicine.

Cutaneous Manifestations of DOCK 8 Deficiency Syndrome

S. Holland, Joie Davis, M. Turner, 2011 .

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

A. Freeman, 2018, Journal of the Pediatric Infectious Diseases Society.

Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma

I. Kirov, A. Freeman, H. Su, 2019, Journal of Clinical Immunology.

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

W. Wilson, S. Pittaluga, S. Holland, 2017, Front. Pediatr..

Food Allergies Can Persist After Myeloablative Hematopoietic Stem Cell Transplantation in DOCK8-Deficient Patients

J. Lyons, K. Stone, A. Freeman, 2016 .

Transcription of the activating receptor NKG2D in natural killer cells is regulated by STAT3 tyrosine phosphorylation.

J. Orange, S. Holland, A. Freeman, 2014, Blood.

IMMUNOBIOLOGY Transcription of the activating receptor NKG 2 D in natural killer cells is regulated by STAT 3 tyrosine phosphorylation

J. Orange, S. Holland, A. Freeman, 2014 .

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

S. Holland, A. Hsu, G. Uzel, 2016, The Journal of allergy and clinical immunology.

B Lymphocytes from Patients with a Hypomorphic Mutation in STAT3 Resist Epstein-Barr Virus-Driven Cell Proliferation

A. Freeman, Sumita Bhaduri-McIntosh, A. de la Paz, 2013, Journal of Virology.

Persistent nodal histoplasmosis in NF- κ B essential modulator (NEMO) deficiency: Report of a case and review of infection in primary immunodeficiencies

S. Holland, A. Hsu, G. Uzel, 2017 .

Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation

A. Freeman, S. Henrickson, R. Abraham, 2022, Frontiers in Pediatrics.

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

Ryan J. Carlson, S. Holland, S. Rosenzweig, 2017, The Journal of allergy and clinical immunology.

Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome.

S. Holland, J. Puck, A. Freeman, 2007, Oral diseases.

Administration of interleukin-7 increases CD4 T cells in idiopathic CD4 lymphocytopenia.

R. Dersimonian, J. Adelsberger, W. Thompson, 2016, Blood.

Coronary Artery Abnormalities in Hyper-IgE Syndrome

Steven M. Holland, Roderic I. Pettigrew, Pamela A. Shaw, 2011, Journal of Clinical Immunology.

Safety of Major Abdominal Surgical Procedures in Patients with Hyperimmunoglobulinemia E (Job’s Syndrome): a Changing Paradigm?

S. Holland, A. Freeman, U. Rudloff, 2013, Journal of Gastrointestinal Surgery.

Opposing roles of STAT1 and STAT3 in IL-21 function in CD4+ T cells

W. Leonard, S. Holland, Jangsuk Oh, 2015, Proceedings of the National Academy of Sciences.

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

Andrew J. Oler, E. Karlins, J. Lyons, 2023, Frontiers in Immunology.

Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiography.

R. Pettigrew, S. Holland, A. Hsu, 2009, AJR. American journal of roentgenology.

LINEZOLID-RESISTANT STAPHYLOCOCCUS AUREUS IN TWO PEDIATRIC PATIENTS RECEIVING LOW-DOSE LINEZOLID THERAPY

S. Holland, P. Murray, A. Freeman, 2006, The Pediatric infectious disease journal.

Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome

S. Holland, D. Kleiner, A. Venkatesan, 2017, Journal of Clinical Immunology.

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report

H. Kong, S. Pittaluga, Tetsuro Kobayashi, 2020, Nature Medicine.

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

M. Tang, K. Sullivan, S. Reda, 2017, Journal of Clinical Immunology.

DOCK8-Deficient CD4(+) T Cells are Biased to a Th2 Effector Fate at the Expense of Th1 and Th17 Cells.

J. Casanova, J. Orange, J. Ziegler, 2016 .

Peptide library-based evaluation of T-cell receptor breadth detects defects in global and regulatory activation in human immunologic diseases

J. Milner, A. Freeman, E. van Dijk, 2013, Proceedings of the National Academy of Sciences.

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

S. Holland, S. Rosenzweig, E. Sampaio, 2019, Front. Immunol..

New trends with endoscopic retrograde cholangiopancreatography.

A. Freeman, D. Martín, 1991, Clinical Radiology.

B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency

W. Wilson, S. Pittaluga, S. Holland, 2013, Journal of Clinical Immunology.

Treatment of STAT3 Deficient Hyper IgE Syndrome with Monoclonal Antibodies Targeting Allergic Inflammation.

J. Church, A. Freeman, B. Grimbacher, 2022, The journal of allergy and clinical immunology. In practice.

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

C. Cunningham-Rundles, S. Holland, T. Torgerson, 2018, The Journal of allergy and clinical immunology.

Allogeneic Bone Marrow Transplantation for STAT3 Deficiency

S. Holland, A. Freeman, D. Dimitrova, 2017 .

Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome

S. Holland, J. Puck, Joie Davis, 2014, Journal of Clinical Immunology.

An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF

D. Hammoud, A. Freeman, A. Urban, 2021, Journal of clinical immunology.

An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF

D. Hammoud, A. Freeman, A. Urban, 2021, Journal of Clinical Immunology.

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

J. Casanova, M. Juan, S. Holland, 2018, Journal of Clinical Immunology.

Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome.

A. Freeman, C. Carmona-Rivera, M. Kaplan, 2020, The Journal of allergy and clinical immunology.

Acute renal failure secondary to fishing line.

C. Brendler, A. Freeman, R. Williams, 1985, British Journal of Urology.

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

M. Tang, K. Sullivan, S. Reda, 2017, Journal of Clinical Immunology.

Immune Reconstitution Inflammatory Syndrome as a Posttransplantation Complication in Primary Immunodeficiency With Disseminated Mycobacterium avium

S. Holland, C. Zerbe, A. Freeman, 2019, Clinical Infectious Diseases.

Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.

J. Yim, S. Holland, E. Lee, 2019, The Journal of allergy and clinical immunology.

Efficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis

S. Holland, A. Freeman, R. Mannino, 2022, Antimicrobial agents and chemotherapy.

Differential responses to folic acid in an established keloid fibroblast cell line are mediated by JAK1/2 and STAT3

A. Freeman, M. E. Alishahedani, I. A. Myles, 2021, PloS one.

Diverticulitis in a Young Man with Hyper-IgE Syndrome

Patty W. Wright, A. Freeman, R. Ness, 2010, Southern medical journal.

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

J. Casanova, C. Picard, S. Holland, 2011, Human molecular genetics.

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Smita Y. Patel, M. Raffeld, S. Pittaluga, 2011, Blood.

Autoimmune Phenotypes in Patients with Autosomal dominant Hyper-IgE/Job's Syndrome

S. Holland, J. Milner, A. Freeman, 2010 .

Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.

A. Freeman, A. Lisco, I. Sereti, 2023, The New England journal of medicine.

Expanded microbiome niches of RAG-deficient patients

S. Conlan, J. Segre, Morgan Park, 2023, Cell reports. Medicine.

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

J. Yim, S. Holland, T. Torgerson, 2013, The Journal of allergy and clinical immunology.

Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies

D. Kuhns, G. Uzel, C. Zerbe, 2023, Science advances.

Immunogenetics associated with severe coccidioidomycosis

Andrew J. Oler, E. Karlins, J. Frelinger, 2022, JCI insight.

Distinct mutations at the same positions of STAT3 cause either loss or gain of function.

S. Holland, E. Sampaio, A. Hsu, 2016, The Journal of allergy and clinical immunology.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Eric O Long, K. Shianna, D. Goldstein, 2012, The New England journal of medicine.

Hyper‐IgE syndrome update

S. Holland, A. Freeman, K. Sowerwine, 2012, Annals of the New York Academy of Sciences.

Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation

S. Holland, Dan Yang, A. Hsu, 2019, Stem cell research.

An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease.

H. Kong, A. Freeman, E. Cowen, 2010, Journal of the American Academy of Dermatology.

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms: A case report

H. Kong, S. Pittaluga, Tetsuro Kobayashi, 2019, Nature medicine.

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

Andrew J. Oler, Yuan Zhang, S. Pittaluga, 2018, The Journal of allergy and clinical immunology.

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

C. Cunningham-Rundles, S. Holland, H. Ochs, 2017, The journal of allergy and clinical immunology. In practice.

Autosomal Dominant Hyper IgE Syndrome

A. Freeman, A. P. Hsu, Steven M. Holland, 2012 .

Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or atopic disease

Andrew J. Oler, Ivan K. Chinn, S. Nejentsev, 2019 .

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Michael T. Zimmermann, Nikita R. Dsouza, N. Taylor, 2021, Blood.