Profile

Hans D. Ochs, MD

Hans D. Ochs, MD

Immunology

On staff since February 1974

Children's Title: Jeffrey Modell Endowed Chair in Pediatric Immunology Research

Academic Title: Professor, Department of Pediatrics

Research Center: Center for Immunity and Immunotherapies

"I decided to enter the medical profession because the Hippocratic Oath rendered it unique, apolitical and not money-driven; at the same time, medicine promised to be a field where research has a purpose, teaching has an impact and providing care for patients is considered a privilege and a vocation. I am content and happy I did."

Hans D. Ochs, MD, is attending physician at Seattle Children’s Hospital; and co-director of the Immunology Diagnostic Laboratory at Seattle Children’s Research Institute. He earned his MD summa cum laude from the University of Freiburg, Germany. He completed his residency in pediatrics at the University of Washington.

The focus of his research is the molecular definition of primary immunodeficiency diseases (PIDD) and the investigation of new techniques to confirm the diagnosis. He and his collaborators contributed significantly to the identification of a number of genes associated with PIDD located on the X chromosome (CD40L, Wiskott-Aldrich syndrome protein [WASP], FOXP3, gp91phox) or on autosomes (uracil-DNA glycosulase; Rag1, Rag2 hypomorphic mutations as the cause of Omenn syndrome, STAT3 responsible for AD-HIES). Ochs started the Immunodeficiency Clinic at Seattle Children’s in 1985, providing evaluation and care for both pediatric and adult patients with immunodeficiency disorders. He has initiated clinical trials for new immunoglobulin preparations for intravenous and subcutaneous infusions and has collaborated with the bone marrow transplant team in the design of new protocols for stem cell transplant and gene therapy. He was principal investigator for U.S. Immune Deficiency Network (USIDnet) and is co-founder and member of the summer school faculty devoted to primary immune deficiencies. He is principal editor for the medical textbook Primary Immunodeficiency Diseases: A Molecular and Genetic Approach and co-editor for Immunological Disorders in Infants and Children.

Recommendations

  • Colleen Salt Lake City, UT 06.16.14

    Dr. Ochs treated my two immune-deficient sons years ago when we lived in Washington. He was very helpful and straightforward in giving my sons what they needed and introducing us to IVIG. He has been a trusted resource I could call over the years even when we lived in other states. He is an excellent researcher. I would highly recommend him.

Overview

Board Certification(s)

Allergy and Immunology
Pediatrics

Residency

Pediatrics, University of Washington School of Medicine, Seattle

Fellowship

Allergy and Immunology, University of Washington School of Medicine, Seattle

Research Description

Dr. Ochs' research focuses on the molecular basis of Primary Immune Deficiency Diseases with special interest in the genes that have been linked to the Wiskott Aldrich Syndrome, Hyper IgM syndromes, X-linked Agammaglobulinemia, IPEX syndrome, autosomal recessive Hyper IgE syndrome. To improve the long-term outcome of these disorders, he has actively participated in clinical trials to develop immunoglobulin replacement, hematopoietic stem cell transplantation, and gene therapy.

Dr. Ochs' clinical interests focus on the use of intravenous and subcutaneous immunoglobulin and the in vivo analysis of antibody production using Bacteriophage FX174. He and his collaborators contributed to the identification of several genes associated with PIDD located on the X chromosome, including CD40L, Wiskott-Aldrich Syndrome protein, BTK, and FOXP3.

Recently, he focused on the gene Uracil-DNA Glycosulase, causing a rare form of autosomal recessive hyper IgM syndrome and on STAT3, the gene causing autosomal dominant Hyper IgE Syndrome if mutated. In 1995, he moved the immunodeficiency clinic from the University to Children's Hospital, providing diagnostic evaluations and clinical care for both pediatric and adult patients with PIDD. He initiated and maintained a successful cooperation with the bone marrow transplant unit since the early 70s and participated in the design of protocols related to stem cell transplantation for patients with SCID, Wiskott-Aldrich Syndrome, GGD, and Hyper IgM Syndrome.

He is a PI for the NIH contract supporting the United States Immune Deficiency Network (USIDNet) and member of the U.S. Summer School Faculty devoted to teaching fellows interested in primary immunodeficiency diseases. As co-editor of the textbooks Primary Immunodeficiency Diseases, A Molecular and Genetic Approach, 2nd Edition and for Immunologic Disorders in Infants and Children, 3rd Edition.

The Ochs/Torgerson Lab focuses on:

1) The molecular basis of primary immunodeficiency disorders
2) Autoimmunity and Immune dysregulation
3) Regulatory T cells and mutations of FOXP3
4) Eventual consequences of heterozygous hypermorphic STAT3 mutations and their relationship to autosomal dominant Hyper IgE syndrome.

Research Focus Area

Immunology

Awards and Honors

Award Name Award Description Awarded By Award Date
 Clinical Immunology Society President’s Award Clinical Immunology Society Jan. 1, 2009

Publications

  • Moes N, Rieux-Laucat F, Begue B, Verdier J, Neven B, Patey N, Torgerson TT, Picard C, Stolzenberg MC, Ruemmele C, Rings EH, Casanova JL, Piloquet H, Biver A, Breton A, Ochs HD, Hermine O, Fischer A, Goulet O, Cerf-Bensussan N, Ruemmele FM
    Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.
    Gastroenterology , 2010 Sept. : 770-8
  • Wang HY, Gopalan V, Aksentijevich I, Yeager M, Ma CA, Mohamoud YA, Quinones M, Matthews C, Boland J, Niemela JE, Torgerson TR, Giliani S, Uzel G, Orange JS, Shapiro R, Notarangelo L, Ochs HD, Fleisher T, Kastner D, Chanock SJ, Jain A
    A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
    Human mutation , 2010 Sept. : 1080-8
  • Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, Rieber N, Cremer R, Maass E, Dopfer R, Reichenbach J, Wahn V, Hoenig M, Jansson AF, Roesen-Wolff A, Schaub B, Seger R, Hill HR, Ochs HD, Torgerson TR, Belohradsky BH, Renner ED
    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 , 2010 Sept. : 611-7.e1
  • Burroughs LM, Torgerson TR, Storb R, Carpenter PA, Rawlings DJ, Sanders J, Scharenberg AM, Skoda-Smith S, Englund J, Ochs HD, Woolfrey AE
    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 , 2010 July 17
  • Quan PL, Wagner TA, Briese T, Torgerson TR, Hornig M, Tashmukhamedova A, Firth C, Palacios G, Baisre-De-Leon A, Paddock CD, Hutchison SK, Egholm M, Zaki SR, Goldman JE, Ochs HD, Lipkin WI
    Astrovirus encephalitis in boy with X-linked agammaglobulinemia.
    Emerging infectious diseases , 2010 June : 918-25
  • Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, Morio T, Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD
    X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
    Blood , 2010 Apr, 22 : 3231-8
  • Yamazaki K, Yamazaki T, Taki S, Miyake K, Hayashi T, Ochs HD, Agematsu K
    Potentiation of TLR9 responses for human naïve B-cell growth through RP105 signaling.
    Clinical immunology (Orlando, Fla.) , 2010 Apr, : 125-36
  • Kumánovics A, Wittwer CT, Pryor RJ, Augustine NH, Leppert MF, Carey JC, Ochs HD, Wedgwood RJ, Faville RJ Jr, Quie PG, Hill HR
    Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.
    The Journal of molecular diagnostics : JMD , 2010 Mar. : 213-9
  • Skoda-Smith S, Torgerson TR, Ochs HD
    Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease.
    Therapeutics and clinical risk management , 2010 Feb. 2 : 1-10
  • Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT
    Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
    The Journal of allergy and clinical immunology , 2009 Dec. : 1152-60.e12
  • Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartröm L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J
    Primary immunodeficiencies: 2009 update.
    The Journal of allergy and clinical immunology , 2009 Dec. : 1161-78
  • Peng B, Ye P, Rawlings DJ, Ochs HD, Miao CH
    Anti-CD3 antibodies modulate anti-factor VIII immune responses in hemophilia A mice after factor VIII plasmid-mediated gene therapy.
    Blood , 2009 Nov. 12 : 4373-82
  • Miao CH, Harmeling BR, Ziegler SF, Yen BC, Torgerson T, Chen L, Yau RJ, Peng B, Thompson AR, Ochs HD, Rawlings DJ
    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 : 4034-44
  • d'Hennezel E, Ben-Shoshan M, Ochs HD, Torgerson TR, Russell LJ, Lejtenyi C, Noya FJ, Jabado N, Mazer B, Piccirillo CA
    FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome.
    The New England journal of medicine , 2009 Oct. 22 : 1710-3
  • Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD
    Comèl-Netherton syndrome defined as primary immunodeficiency.
    The Journal of allergy and clinical immunology , 2009 Sept. : 536-43
  • Torgerson TR, Genin A, Chen C, Zhang M, Zhou B, Añover-Sombke S, Frank MB, Dozmorov I, Ocheltree E, Kulmala P, Centola M, Ochs HD, Wells AD, Cron RQ
    FOXP3 inhibits activation-induced NFAT2 expression in T cells thereby limiting effector cytokine expression.
    Journal of immunology (Baltimore, Md. : 1950) , 2009 July 15 : 907-15
  • Astrakhan A, Ochs HD, Rawlings DJ
    Wiskott-Aldrich syndrome protein is required for homeostasis and function of invariant NKT cells.
    Journal of immunology (Baltimore, Md. : 1950) , 2009 June 15 : 7370-80
  • Ochs HD, Oukka M, Torgerson TR
    TH17 cells and regulatory T cells in primary immunodeficiency diseases.
    The Journal of allergy and clinical immunology , 2009 May : 977-83; quiz 984-5
  • Shearer WT, Ochs HD, Lee BN, Cohen EN, Reuben JM, Cheng I, Thompson B, Butel JS, Blancher A, Abbal M, Aviles H, Sonnenfeld G
    Immune responses in adult female volunteers during the bed-rest model of spaceflight: antibodies and cytokines.
    The Journal of allergy and clinical immunology , 2009 Apr, : 900-5
  • Tsuboi S, Takada H, Hara T, Mochizuki N, Funyu T, Saitoh H, Terayama Y, Yamaya K, Ohyama C, Nonoyama S, Ochs HD
    FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages.
    The Journal of biological chemistry , 2009 Mar. 27 : 8548-56
  • Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B
    Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
    Blood , 2009 Feb. 26 : 1967-76
  • Liu P, Santisteban I, Burroughs LM, Ochs HD, Torgerson TR, Hershfield MS, Rawlings DJ, Scharenberg AM
    Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.
    Clinical immunology (Orlando, Fla.) , 2009 Feb. : 162-74
  • Kobayashi S, Haruo N, Sugane K, Ochs HD, Agematsu K
    Interleukin-21 stimulates B-cell immunoglobulin E synthesis in human beings concomitantly with activation-induced cytidine deaminase expression and differentiation into plasma cells.
    Human immunology , 2009 Jan. : 35-40
  • Ochs HD
    Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes.
    Immunologic research , 2009 : 84-8
  • Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N
    Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment.
    Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation , 2009 Jan. : 84-90
  • Westerberg LS, de la Fuente MA, Wermeling F, Ochs HD, Karlsson MC, Snapper SB, Notarangelo LD
    WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function.
    Blood , 2008 Nov. 15 : 4139-47
  • Krueger JG, Ochs HD, Patel P, Gilkerson E, Guttman-Yassky E, Dummer W
    Effect of therapeutic integrin (CD11a) blockade with efalizumab on immune responses to model antigens in humans: results of a randomized, single blind study.
    The Journal of investigative dermatology , 2008 Nov. : 2615-24
  • Peng B, Ye P, Blazar BR, Freeman GJ, Rawlings DJ, Ochs HD, Miao CH
    Transient blockade of the inducible costimulator pathway generates long-term tolerance to factor VIII after nonviral gene transfer into hemophilia A mice.
    Blood , 2008 Sept. 1 : 1662-72
  • Schultz KA, Neglia JP, Smith AR, Ochs HD, Torgerson TR, Kumar A
    Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.
    Pediatric blood & cancer , 2008 Aug. : 293-5
  • Oxelius VA, Ochs HD, Hammarström L
    Restricted immunoglobulin constant heavy G chain genes in primary immunodeficiencies.
    Clinical immunology (Orlando, Fla.) , 2008 Aug. : 190-8
  • Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, Zhu Q, Jansson AF, Barboza J, Schimke LF, Leppert MF, Getz MM, Seger RA, Hill HR, Belohradsky BH, Torgerson TR, Ochs HD
    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 , 2008 July : 181-7
  • Ochs HD
    Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment.
    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology , 2008 May : 509-11
  • Notarangelo LD, Miao CH, Ochs HD
    Wiskott-Aldrich syndrome.
    Current opinion in hematology , 2008 Jan. : 30-6
  • Fuchizawa T, Adachi Y, Ito Y, Higashiyama H, Kanegane H, Futatani T, Kobayashi I, Kamachi Y, Sakamoto T, Tsuge I, Tanaka H, Banham AH, Ochs HD, Miyawaki T
    Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.
    Clinical immunology (Orlando, Fla.) , 2007 Dec. : 237-46
  • Torgerson TR, Ochs HD
    Regulatory T cells in primary immunodeficiency diseases.
    Current opinion in allergy and clinical immunology , 2007 Dec. : 515-21
  • Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD
    Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
    Journal of clinical immunology , 2007 Nov. : 640-6
  • Renner ED, Torgerson TR, Rylaarsdam S, Añover-Sombke S, Golob K, LaFlam T, Zhu Q, Ochs HD
    STAT3 mutation in the original patient with Job's syndrome.
    The New England journal of medicine , 2007 Oct. 18 : 1667-8
  • Torgerson TR, Ochs HD
    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
  • Shearer WT, Cunningham-Rundles C, Ballow M, Ochs HD, Geha RS
    Images in immunodeficiency.
    The Journal of allergy and clinical immunology , 2007 Oct. : 982-4
  • Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J
    Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
    The Journal of allergy and clinical immunology , 2007 Oct. : 776-94
  • Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux-Laucat F, Hermine O, Vijay S, Gambineri E, Cerf-Bensussan N, Fischer A, Ochs HD, Goulet O, Ruemmele FM
    Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.
    Gastroenterology , 2007 May : 1705-17
  • Heltzer ML, Choi JK, Ochs HD, Sullivan KE, Torgerson TR, Ernst LM
    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 , 2007 Mar. : 98-105
  • de la Fuente MA, Sasahara Y, Calamito M, Antón IM, Elkhal A, Gallego MD, Suresh K, Siminovitch K, Ochs HD, Anderson KC, Rosen FS, Geha RS, Ramesh N
    WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).
    Proceedings of the National Academy of Sciences of the United States of America , 2007 Jan. 16 : 926-31
  • Ochs HD, Torgerson TR
    Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression.
    Advances in experimental medicine and biology , 2007 : 27-36
  • Ochs HD, Gambineri E, Torgerson TR
    IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.
    Immunologic research , 2007 : 112-21
  • Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H
    Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
    Immunity , 2006 Nov. : 745-55
  • Lopes JE, Torgerson TR, Schubert LA, Anover SD, Ocheltree EL, Ochs HD, Ziegler SF
    Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor.
    Journal of immunology (Baltimore, Md. : 1950) , 2006 Sept. 1 : 3133-42
  • Miao CH, Ye P, Thompson AR, Rawlings DJ, Ochs HD
    Immunomodulation of transgene responses following naked DNA transfer of human factor VIII into hemophilia A mice.
    Blood , 2006 July 1 : 19-27
  • Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, Conley ME, Cunningham-Rundles C, Ochs HD
    X-linked agammaglobulinemia: report on a United States registry of 201 patients.
    Medicine , 2006 July : 193-202
  • Tsuboi S, Nonoyama S, Ochs HD
    Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion.
    EMBO reports , 2006 May : 506-11
  • Ochs HD, Gupta S, Kiessling P, Nicolay U, Berger M
    Safety and efficacy of self-administered subcutaneous immunoglobulin in patients with primary immunodeficiency diseases.
    Journal of clinical immunology , 2006 May : 265-73
  • Gavin MA, Torgerson TR, Houston E, DeRoos P, Ho WY, Stray-Pedersen A, Ocheltree EL, Greenberg PD, Ochs HD, Rudensky AY
    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 : 6659-64
  • Ochs HD, Thrasher AJ
    The Wiskott-Aldrich syndrome.
    The Journal of allergy and clinical immunology , 2006 Apr, : 725-38; quiz 739
  • Trakultivakorn M, Ochs HD
    X-linked agammaglobulinemia in northern Thailand.
    Asian Pacific journal of allergy and immunology / launched by the Allergy and Immunology Society of Thailand , 2006 Mar. : 57-63
  • Nicolay U, Kiessling P, Berger M, Gupta S, Yel L, Roifman CM, Gardulf A, Eichmann F, Haag S, Massion C, Ochs HD
    Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG self-infusions at home.
    Journal of clinical immunology , 2006 Jan. : 65-72
  • Notarangelo LD, Notarangelo LD, Ochs HD
    WASP and the phenotypic range associated with deficiency.
    Current opinion in allergy and clinical immunology , 2005 Dec. : 485-90
  • Bindl L, Torgerson T, Perroni L, Youssef N, Ochs HD, Goulet O, Ruemmele FM
    Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).
    The Journal of pediatrics , 2005 Aug. : 256-9
  • Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL
    Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
    Nature genetics , 2005 July : 692-700
  • Ochs HD, Notarangelo LD
    Structure and function of the Wiskott-Aldrich syndrome protein.
    Current opinion in hematology , 2005 July : 284-91
  • Oda A, Miki H, Wada I, Yamaguchi H, Yamazaki D, Suetsugu S, Nakajima M, Nakayama A, Okawa K, Miyazaki H, Matsuno K, Ochs HD, Machesky LM, Fujita H, Takenawa T
    WAVE/Scars in platelets.
    Blood , 2005 Apr, 15 : 3141-8
  • Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD
    Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
    Blood , 2005 Mar. 1 : 1881-90
  • Huang W, Ochs HD, Dupont B, Vyas YM
    The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappa B (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement.
    Journal of immunology (Baltimore, Md. : 1950) , 2005 Mar. 1 : 2602-11
  • Ochs HD, Ziegler SF, Torgerson TR
    FOXP3 acts as a rheostat of the immune response.
    Immunological reviews , 2005 Feb. : 156-64
  • Bearden CM, Agarwal A, Book BK, Vieira CA, Sidner RA, Ochs HD, Young M, Pescovitz MD
    Rituximab inhibits the in vivo primary and secondary antibody response to a neoantigen, bacteriophage phiX174.
    American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons , 2005 Jan. : 50-7
  • Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD
    Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
    Blood , 2004 Dec. 15 : 4010-9
  • Etzioni A, Ochs HD
    The hyper IgM syndrome--an evolving story.
    Pediatric research , 2004 Oct. : 519-25
  • Ochs HD, Notarangelo LD
    X-linked immunodeficiencies.
    Current allergy and asthma reports , 2004 Sept. : 339-48
  • Ye P, Thompson AR, Sarkar R, Shen Z, Lillicrap DP, Kaufman RJ, Ochs HD, Rawlings DJ, Miao CH
    Naked DNA transfer of Factor VIII induced transgene-specific, species-independent immune response in hemophilia A mice.
    Molecular therapy : the journal of the American Society of Gene Therapy , 2004 July : 117-26
  • Ochs HD, Pinciaro PJ
    Octagam 5%, an intravenous IgG product, is efficacious and well tolerated in subjects with primary immunodeficiency diseases.
    Journal of clinical immunology , 2004 May : 309-14
  • Nieves DS, Phipps RP, Pollock SJ, Ochs HD, Zhu Q, Scott GA, Ryan CK, Kobayashi I, Rossi TM, Goldsmith LA
    Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
    Archives of dermatology , 2004 Apr, : 466-72
  • Shearer WT, Cunningham-Rundles C, Ochs HD
    Primary immunodeficiency: looking backwards, looking forwards.
    The Journal of allergy and clinical immunology , 2004 Apr, : 607-9
  • Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S
    Clinical course of patients with WASP gene mutations.
    Blood , 2004 Jan. 15 : 456-64
  • Imai K, Nonoyama S, Ochs HD
    WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.
    Current opinion in allergy and clinical immunology , 2003 Dec. : 427-36
  • Gottlieb AB, Casale TB, Frankel E, Goffe B, Lowe N, Ochs HD, Roberts JL, Washenik K, Vaishnaw AK, Gordon KB
    CD4+ T-cell-directed antibody responses are maintained in patients with psoriasis receiving alefacept: results of a randomized study.
    Journal of the American Academy of Dermatology , 2003 Nov. : 816-25
  • Lee WI, Zhu Q, Gambineri E, Jin Y, Welcher AA, Ochs HD
    Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.
    The Journal of allergy and clinical immunology , 2003 Nov. : 958-64
  • Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A
    Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
    Nature immunology , 2003 Oct. : 1023-8
  • Notarangelo LD, Ochs HD
    Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation.
    Current opinion in immunology , 2003 Oct. : 585-91
  • Shi Y, Agematsu K, Ochs HD, Sugane K
    Functional analysis of human memory B-cell subpopulations: IgD+CD27+ B cells are crucial in secondary immune response by producing high affinity IgM.
    Clinical immunology (Orlando, Fla.) , 2003 Aug. : 128-37
  • Gambineri E, Torgerson TR, Ochs HD
    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 July : 430-5
  • Kobayashi N, Agematsu K, Sugita K, Sako M, Nonoyama S, Yachie A, Kumaki S, Tsuchiya S, Ochs HD, Sugita K, Fukushima Y, Komiyama A
    Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.
    Human genetics , 2003 Apr, : 348-52
  • Rodríguez C, Carrión F, Marinovic MA, Chávez E, Preisler J, Pooley F, Futatani T, Ochs HD
    [X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case]
    Revista medica de Chile , 2003 Mar. : 303-8
  • Torgerson TR, Ochs HD
    Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation.
    Current opinion in allergy and clinical immunology , 2002 Dec. : 481-7
  • Brunner C, Kreth HW, Ochs HD, Schuster V
    Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia.
    Journal of clinical immunology , 2002 July : 244-51
  • Aiuti A, Vai S, Mortellaro A, Casorati G, Ficara F, Andolfi G, Ferrari G, Tabucchi A, Carlucci F, Ochs HD, Notarangelo LD, Roncarolo MG, Bordignon C
    Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement.
    Nature medicine , 2002 May : 423-5
  • Ochs HD
    The Wiskott-Aldrich syndrome.
    The Israel Medical Association journal : IMAJ , 2002 May : 379-84
  • Agematsu K, Futatani T, Hokibara S, Kobayashi N, Takamoto M, Tsukada S, Suzuki H, Koyasu S, Miyawaki T, Sugane K, Komiyama A, Ochs HD
    Absence of memory B cells in patients with common variable immunodeficiency.
    Clinical immunology (Orlando, Fla.) , 2002 Apr, : 34-42
  • Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD, Notarangelo LD
    Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
    Blood , 2002 Mar. 15 : 2268-9
  • Ziegner UH, Kobayashi RH, Cunningham-Rundles C, Español T, Fasth A, Huttenlocher A, Krogstad P, Marthinsen L, Notarangelo LD, Pasic S, Rieger CH, Rudge P, Sankar R, Shigeoka AO, Stiehm ER, Sullivan KE, Webster AD, Ochs HD
    Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment.
    Clinical immunology (Orlando, Fla.) , 2002 Jan. : 19-24
  • Sarpong S, Skolnick HS, Ochs HD, Futatani T, Winkelstein JA
    Survival of wild polio by a patient with XLA.
    Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology , 2002 Jan. : 59-60