Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.
The Journal of allergy and clinical immunology
, Feb. 2012: 129(2)559-562.e2
Outcomes and duration of Pneumocystis jiroveci pneumonia therapy in infants with severe combined immunodeficiency.
The Pediatric infectious disease journal
, Jan. 2012: 31(1)95-7
Autoimmune hepatitis type 2 in a child with IPEX syndrome.
Journal of pediatric gastroenterology and nutrition
, Dec. 2011: 53(6)690-3
Effect of rituximab on human invivo antibody immune responses.
The Journal of allergy and clinical immunology
, Dec. 2011: 128(6)1295-1302.e5
Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.
The Journal of allergy and clinical immunology
, Dec. 2011
Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients.
Journal of clinical immunology
, Dec. 2011
Genetic disorders with immune dysregulation.
Cellular and molecular life sciences : CMLS
, 2012 Jan: 69(1)49-58
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.
Blood
, Aug. 2011: 118(6)1675-84
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.
Journal of autoimmunity
, Nov. 2010: 35(3)265-8
Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
The Journal of allergy and clinical immunology
, Nov. 2010: 126(5)1000-5
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
The Journal of allergy and clinical immunology
, Sept. 2010: 126(3)611-7.e1
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Human mutation
, Sept. 2010: 31(9)1080-8
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
The Journal of allergy and clinical immunology
, Sept. 2010: 611-7.e1
Astrovirus encephalitis in boy with X-linked agammaglobulinemia.
Emerging infectious diseases
, June 2010: 16(6)918-25
Autoantibodies in scurfy mice and IPEX patients recognize keratin 14.
The Journal of investigative dermatology
, May 2010: 130(5)1391-9
Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease.
Therapeutics and clinical risk management
, Feb. 2010: 61-10
Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents.
The Journal of allergy and clinical immunology
, Jan. 2010: 125(1)264-5
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
The Journal of allergy and clinical immunology
, Dec. 2009: 124(6)1152-60.e12
CD4+FOXP3+ regulatory T cells confer long-term regulation of factor VIII-specific immune responses in plasmid-mediated gene therapy-treated hemophilia mice.
Blood
, 2009 Nov 5: 114(19)4034-44
FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome.
The New England journal of medicine
, Oct. 2009: 1710-3
Coml-Netherton syndrome defined as primary immunodeficiency.
The Journal of allergy and clinical immunology
, Sept. 2009: 124(3)536-43
FOXP3 inhibits activation-induced NFAT2 expression in T cells thereby limiting effector cytokine expression.
Journal of immunology (Baltimore, Md. : 1950)
, July 2009: 183(2)907-15
TH17 cells and regulatory T cells in primary immunodeficiency diseases.
The Journal of allergy and clinical immunology
, 2009 May: 123(5)977-83; quiz 984-5
Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.
Clinical immunology (Orlando, Fla.)
, Feb. 2009: 130(2)162-74
Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.
Pediatric blood & cancer
, Aug. 2008: 51(2)293-5
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
The Journal of allergy and clinical immunology
, July 2008: 122(1)181-7
Intraarticular corticosteroid injections of the temporomandibular joint in juvenile idiopathic arthritis.
The Journal of rheumatology
, June 2008: 35(6)1157-64
Immune dysregulation in primary immunodeficiency disorders.
Immunology and allergy clinics of North America
, 2008 May: 28(2)315-27, viii-ix
Immune dysregulation in primary immunodeficiency
disorders.
Immunology and allergy clinics of North
America
, 2008 May: 315-27, viii-ix
Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome.
Archives of dermatology
, March 2008: 418-9
Regulatory T cells in primary immunodeficiency diseases.
Current opinion in allergy and clinical immunology
, 2007 Dec: 7(6)515-21
Regulatory T cells in primary immunodeficiency
diseases.
Current opinion in allergy and clinical
immunology
, 2007 Dec: 515-21
STAT3 mutation in the original patient with Job's syndrome.
The New England journal of medicine
, 2007 Oct 18: 357(16)1667-8
STAT3 mutation in the original patient with Job's
syndrome.
The New England journal of
medicine
, 2007 Oct 18: 1667-8
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells.
The Journal of allergy and clinical immunology
, 2007 Oct: 120(4)744-50; quiz 751-2
Immune dysregulation, polyendocrinopathy, enteropathy,
X-linked: forkhead box protein 3 mutations and lack of regulatory
T cells.
The Journal of allergy and clinical
immunology
, 2007 Oct: 744-50; quiz 751-2
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.
Gastroenterology
, May 2007: 1705-17
A potential screening tool for IPEX syndrome.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
, March 2007: 10(2)98-105
Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis.
The Journal of clinical investigation
, Feb. 2007: 117(2)407-18
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.
Immunologic research
, 2007: 38(1-3)112-21
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression.
Advances in experimental medicine and biology
, 2007: 60127-36
Immune dysregulation, polyendocrinopathy, enteropathy,
X-linked inheritance: model for autoaggression.
Advances in experimental medicine and
biology
, 2007: 27-36
IPEX, FOXP3 and regulatory T-cells: a model for
autoimmunity.
Immunologic research
, 2007: 112-21
Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor.
Journal of immunology (Baltimore, Md. : 1950)
, 2006 Sep 1: 177(5)3133-42
Regulatory T cells in human autoimmune diseases.
Springer seminars in immunopathology
, 2006 Aug: 28(1)63-76
Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development.
Proceedings of the National Academy of Sciences of the United States of America
, 2006 Apr 25: 103(17)6659-64
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Blood
, March 2005: 105(5)1881-90
FOXP3 acts as a rheostat of the immune response.
Immunological reviews
, 2005 Feb: 203156-64
FOXP3 acts as a rheostat of the immune response.
Immunological reviews
, 2005 Feb: 156-64
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.
Current opinion in rheumatology
, 2003 Jul: 15(4)430-5
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation.
Current opinion in allergy and clinical immunology
, 2002 Dec: 2(6)481-7
IPEX Syndrome
, 1997 - 2004
Common Variable Immune Deficiency Overview
, 1993
Soft artificial ventricles for infants and adults, with or without a clamshell.
ASAIO transactions / American Society for Artificial Internal Organs
, 1990 Jul-Sep: 36(3)M238-42