Primary cellular immunodeficiencies

Slides:

Advertisements

Similar presentations

Effect of 2-year placebo-controlled immunotherapy on airway symptoms and medication in patients with birch pollen allergy Monica B. Arvidsson, MD, Olle.

Advertisements

Different expression of cytokine and membrane molecules by circulating lymphocytes on acute mental stress in patients with atopic dermatitis in comparison.

Suneet Agarwal, ScBa, João P.B. Viola, MD, PhDb, Anjana Rao, PhDa

Defects of class-switch recombination

Immunodeficiencies.

Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies Nima Rezaei, MD, PhD, Mona Hedayat, MD,

Signaling molecules as therapeutic targets in allergic diseases

Tissue-specific glucocorticoid resistance-hypersensitivity syndromes: Multifactorial states of clinical importance Tomoshige Kino, MD, PhD, George P.

Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning Niraj.

Recent Insights Into the Genetics of Inflammatory Bowel Disease

Practice Notes from the AAAI

One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years Reem Ahmed Elfeky, MD, Juliana M. Furtado-Silva,

Bone Marrow Transplantation Using HLA-Matched Unrelated Donors for Patients Suffering from Severe Combined Immunodeficiency Eyal Grunebaum, MD, Chaim.

Elephantiasis nostras: A case report

Conjunctivitis medicamentosa

Lawrence F. Eichenfield, MD, Lisa Beck, MD

Paul Szabolcs, Donna Niedzwiecki

Inhaled corticosteroids: Impact on asthma morbidity and mortality

Practice Notes from the AAAAI

Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency Markus J. Ege, MD, Catharina.

Mast cell activation syndrome: Proposed diagnostic criteria

Practice pattern changes and improvements in hematopoietic cell transplantation for primary immunodeficiencies Rebecca A. Marsh, MD, Kyle M. Hebert,

A review of the current guidelines for allergic rhinitis and asthma

Pathophysiology of the inflammatory response

News & Notes Journal of Allergy and Clinical Immunology

Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted.

Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1– mutated common variable immunodeficiency disease Vassilios Lougaris,

Inflammatory cells, cytokine and chemokine expression in asthma immunocytochemistry and in situ hybridization Qutayba Hamid, MD, PhD, Editor Journal.

6. Asthma Journal of Allergy and Clinical Immunology

Nasal provocation test with lysine-aspirin for diagnosis of aspirin-sensitive asthma Mamert Milewski, MD, Lucyna Mastalerz, MD, Ewa Niżankowska, MD, Andrzej.

Host natural killer immunity is a key indicator of permissiveness for donor cell engraftment in patients with severe combined immunodeficiency Amel Hassan,

William T. Shearer, MD, PhD, Alain Fischer, MD, PhD

Allergy to cooked white potatoes in infants and young children: A cause of severe, chronic allergic disease Liliane F.A. De Swert, MD, Pascal Cadot,

Molecular virology and immunology of HIV infection

Mechanism-Based Precision Therapy for the Treatment of Primary Immunodeficiency and Primary Immunodysregulatory Diseases Jennifer W. Leiding, MD, Lisa.

Clinical need for a nebulized corticosteroid

Granulomatous-lymphocytic Interstitial Lung Disease in a Patient with Common Variable Immunodeficiency Phil Lieberman, MD, John Routes, MD The Journal.

Role of regulatory T cells and FOXP3 in human diseases

Autophagy: Nobel Prize 2016 and allergy and asthma research

News & Notes Journal of Allergy and Clinical Immunology

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome Hidenori Ohnishi, MD, PhD, Rie Miyata, MD,

Association of humoral immunodeficiency, cleidocranial dysplasia, and von Willebrand’s disease in a family cluster Pramod S. Kelkar, MD, Rosa M. Ten,

Observations on emerging patterns of asthma in our society

Successful haploidentical bone marrow transplantation in a patient with reticular dysgenesis: Three-year follow-up Meredith Lee Heltzer, MD, Michele.

Emma Broadfield, MRCP, Tricia M

Primary immunodeficiencies: A rapidly evolving story

Bone marrow transplantation for MHC class I deficiency corrects T-cell immunity but dissociates natural killer cell repertoire formation from function

Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments László Maródi, MD, PhD, Jean-Laurent.

Peter J. Barnes, DM, DSc, FRCP

The role and remediation of animal allergens in allergic diseases

Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency

Molecular and cellular mechanisms of allergic disease

Practice Notes from the AAAI

TH9 immunodeficiency in patients with hyper-IgE syndrome

Genetic and environmental interaction in allergy and asthma

Vanessa L. Ott, PhD, John C. Cambier, PhD

Effects of the hindlimb-unloading model of spaceflight conditions on resistance of mice to infection with Klebsiella pneumoniae Tesfaye Belay, PhD, Hernan.

17. Immunologic endocrine disorders

Sami T. Remes, MD, MPHa,b, Jose A. Castro-Rodriguez, MDa, Catharine J

Determinants of systemic manifestations of food allergy

Sulfonamide-reactive lymphocytes detected at very low frequency in the peripheral blood of patients with drug-induced eruptions Richard S. Kalish, MD,

The allergy archives: Pioneers and Milestones

Abnormalities of cell and mediator levels in bronchoalveolar lavage fluid of patients with mild asthma Sally E. Wenzel, MD Journal of Allergy and Clinical.

Footnotes1 Journal of Allergy and Clinical Immunology

10. Drug allergy Journal of Allergy and Clinical Immunology

The environmental predictors of allergic disease

Bruce K. Bacot, MD, Mary E. Paul, MD, Maritza Navarro, MD, Stuart L

First reported case of Omenn syndrome in a patient with reticular dysgenesis Lauren A. Henderson, MD, Francesco Frugoni, PhD, Gregory Hopkins, BS, Waleed.

News & Notes Journal of Allergy and Clinical Immunology

Natural history of cow’s milk allergy

Presentation transcript:

Primary cellular immunodeficiencies Rebecca H. Buckley, MD Journal of Allergy and Clinical Immunology Volume 109, Issue 5, Pages 747-757 (May 2002) DOI: 10.1067/mai.2002.123617 Copyright © 2002 Mosby, Inc. Terms and Conditions

Fig. 1 Locations of mutant proteins in activated CD4+ T cells identified in primary immunodeficiency diseases. Each mutant protein is identified by a red “X.” SLAM, Signaling lymphocyte activation molecule, SH2D1A, SLAM-associated protein; ATM, ataxia-telangiectasia mutation; NFAT, nuclear factor of activated T cells; WASP, Wiskott-Aldrich syndrome protein; β2m, β2-microglobulin; RFX, RFXAP, and CIITA, transcription factors. Used with permission from N Engl J Med. 2000;343:1317. Journal of Allergy and Clinical Immunology 2002 109, 747-757DOI: (10.1067/mai.2002.123617) Copyright © 2002 Mosby, Inc. Terms and Conditions

Fig. 2 Relative frequencies of the different genetic types of SCID among 160 patients seen consecutively over 3 decades. RD, Reticular dysgenesis; CHH, cartilage hair hypoplasia. Journal of Allergy and Clinical Immunology 2002 109, 747-757DOI: (10.1067/mai.2002.123617) Copyright © 2002 Mosby, Inc. Terms and Conditions

Fig. 3 Diagram showing that Jak3 is the major signal transducer for the common γc shared by multiple cytokine receptors. Mutations in the gene encoding Jak3 result in a form of autosomal recessive SCID that mimics SCID-X1 phenotypically. Journal of Allergy and Clinical Immunology 2002 109, 747-757DOI: (10.1067/mai.2002.123617) Copyright © 2002 Mosby, Inc. Terms and Conditions

Fig. 4 Kaplan-Meier survival curve for 32 consecutive infants with SCID who received bone marrow transplants at Duke University Medical Center from HLA-identical (n = 2) or haploidentical (n = 30) donors before they were 3.5 months of age without pretransplantation chemoablation and without posttransplantation GVHD prophylaxis. Thirty-one (97%) infants survive for periods of 4 months to 20 years after transplantation. The 1 death occurred from a cytomegalovirus infection. Journal of Allergy and Clinical Immunology 2002 109, 747-757DOI: (10.1067/mai.2002.123617) Copyright © 2002 Mosby, Inc. Terms and Conditions