Genetics of allergic and immunoregulatory disorders
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| Format: | Buch |
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| Sprache: | English |
| Veröffentlicht: |
Philadelphia [u.a.]
Saunders
2002
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| Schriftenreihe: | Immunology and allergy clinics of North America
22,2 |
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| Online-Zugang: | Inhaltsverzeichnis |
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MARC
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| 245 | 1 | 0 | |a Genetics of allergic and immunoregulatory disorders |c Kathleen E. Sullivan ..., guest eds. |
| 264 | 1 | |a Philadelphia [u.a.] |b Saunders |c 2002 | |
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| 490 | 1 | |a Immunology and allergy clinics of North America |v 22,2 | |
| 650 | 4 | |a Allergy |x Genetic aspects | |
| 650 | 4 | |a Immune response |v Regulations | |
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Datensatz im Suchindex
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|---|---|
| DE-BY-UBR_katkey | 3328308 |
| DE-BY-UBR_location | 00 |
| DE-BY-UBR_media_number | 069030801274 |
| _version_ | 1822712326678118400 |
| adam_text | GENETICS OF ALLERGIC Alffil ^^^^^^SBBBKBBM
CONTENTS
Preface xj
Kathleen E. Sullivan and Jonathan M. Spergel
Genetics of Asthma 179
Michael J. Larj, Deborah A. Meyers, and Eugene R. Bleecker
Multiple genes influence susceptibility to asthma, and disease expres¬
sion is affected by genetic and environmental factors. Genetic studies
of complex disorders such as asthma require the collaborative efforts
of investigators who are involved in phenotype definition, molecular
and statistical genetics, and biologic studies. Determining the specif¬
ic role of each gene in the development of asthma and bronchial
hyperresponsiveness and correlations of phenotype to genotype are
important areas of research. Combined genetic, molecular, and clini¬
cal studies can lead to improved therapies and better techniques for
early diagnosis of these disorders. By understanding the basic genet¬
ic mechanisms that lead to the development of allergy and asthma,
new therapeutic interventions can be developed that modify the
development and clinical progression of these disorders.
Genetics of Atopic Dermatitis 199
William O.C.M. Cookson, John I. Harper, and Miriam F. Moffatt
Atopic dermatitis (AD) is a common skin disorder that is typified by
itchy, inflamed skin. Although atopy is a prominent feature of AD,
the cause of the disease is unknown, and approximately 10% of
patients with AD are not atopic. The disease is under strong genetic
control, so identification of the genes and genetic variants underlying
AD might lead to new treatments and better classification of children
with the disease. Preliminary genetic studies have identified that the
genes or clusters of genes that affect the barrier functions of the skin
are as important as genes that might modify the atopic process. These
genes might influence other diseases, including psoriasis. The find¬
ings emphasize that the barrier function of the skin is not merely pas¬
sive, and the polymorphic nature of genes and gene families
expressed in the skin suggest a polyvalent response to a number of
different stimuli, including infections.
VOLUME 22 • NUMBER 2 . MAY 2002 v
The Genetics of Food Allergy 211
Scott H. Sicherer
Food allergy is a complex trait with phenotypic expression that
undoubtedly is determined by multiple genes with major and
minor influences impacted by gene gene and gene environment
interactions. Food allergy is not a single disorder but a variety of
clinical manifestations that are attributed to adverse immunologic
responses to food proteins. Successful genetic dissection of food
allergy must begin with a clear description of a particular pheno
type. This article reviews the challenges in defining various
phenotypes of food allergy the progress in determining the genetic
basis of food allergy, and the future directions for the investigation
of the genes involved in this complex disease.
The Pharmacogenetics of Asthma and Allergic Disease 223
Josephine Hjoberg, Jeffrey M. Drazen, Lyle J. Palmer,
Scott T. Weiss, and Eric S. Silverman
There is great interindividual variability in the response to asthma
medications, and a substantial portion of this variability has a
genetic basis. Pharmacogenomics is a rapidly evolving discipline and
approach to patient care that uses genetic information and genomic
technologies to identify underlying mechanisms that are responsible
for these variable therapeutic responses. In this article, the pharma
cogenetic principles in the context of asthma are described. Several
examples of polymorphisms in genes that impact the efficacy of
P2 agonists and antileukotriene drugs have been identified and are
discussed. Analysis of polymorphisms likely is to be used routinely
in clinical practice for optimizing asthma drug therapy.
Genetics of Obstructive Airways Disease: Cystic Fibrosis,
a 1 Antitrypsin Deficiency, and Hermansky Pudlak Syndrome 243
Eva Halapi and Hakon Hakonarson
Unlike asthma and chronic obstructive pulmonary disease (COPD),
which are two of the most common chronic diseases that are
attributed to complex interactions between the environment and
multiple unknown genes, most respiratory disorders that show
Mendelian inheritance patterns are relatively rare and are caused by
genetic defects that have been well characterized. Cystic fibrosis (CF)
is the most common among these monogenetic diseases. With the
discovery of the gene for the CF transmembrane conductance regu¬
lator (CFTR), there has been a dramatic change in the understanding
of the genetic defect and molecular mechanisms involved in CF.
Together with a 1 antitrypsin (A 1 AT) deficiency, CF has become the
most intensively investigated monogenetic disorder and a prototype
research model of human lung disease. Important knowledge of
disease genes and associated molecular pathways has been derived
from these disease models to better understand the development and
progression of COPD. This article reviews the evidence in support of
genetic causes of CF, A 1AT deficiency, and Hermansky Pudlak
vi CONTENTS
syndrome. Although significant progress has been made in the field
of Mendelian genetics in the past 2 decades, this progress in part has
translated only into effective therapy, and the genetics of most com¬
plex disorders remain unresolved.
Genetic Syndromes Associated with Immunodeficiency 261
Jeffrey E. Ming, E. Richard Stiehm, and John M. Graham, Jr
A number of conditions with immune deficiency also have clinical
features that are not associated directly with the immunologic defect.
These syndromic immunodeficiencies can have abnormalities in a
number of organ systems. This article discusses several disorders in
which advances have led to a greater understanding of the genetic
basis of these syndromes. The finding of immune deficits in a number
of defined syndromes with congenital anomalies suggests that an
underlying genetic syndrome should be considered in patients in
whom a significant nonimmune feature is present.
Hemophagocytic Lymphohistiocytosis 281
Alexandra H. Filipovich
The current understanding regarding the etiology and pathogenesis
of hemophagocytic lymphohistiocytosis (HLH) is described.
Diagnostic criteria for clinical and laboratory diagnosis, as well as
effective therapies, are reviewed.
Chediak Higashi and Griscelli Syndromes 301
Genevieve de Saint Basile
Chediak Higashi syndrome and Griscelli syndrome are immune
disorders that are characterized by a severe and often fatal
hemophagocytic syndrome (HPS). Progress has been made in the
characterization and understanding of the molecular basis involved
in these inherited disorders. Defects in the CHS1/LYST protein in
Chediak Higashi syndrome and in the RAB27A protein in Griscelli
syndrome lead to impairment of intracellular trafficking and
secretion of several lysosomal proteins, including melanin from
melanocytes and lytic enzymes from cytotoxic cells. These secretory
defects cause hypopigmentation and a HPS, symptoms that
characterize these two disorders. A neurologic form of Griscelli
syndrome is caused by a deficiency in the molecular motor protein
myosin Va. The molecular characterization of these two condi¬
tions has identified new effectors of the secretory pathway and
highlighted the pathway s determinant role in the regulation of
lymphocyte homeostasis.
X linked Lymphoproliferative Disease 319
Kim E. Nichols and Thomas G. Gross
X linked lymphoproliferative disease (XLP) is an inherited
immune defect caused by germline mutations in SH2D1A (SH2
CONTENTS vii
domain containing gene 1A; also known as DSHP, SAP), a gene
that encodes a small adaptor protein expressed in T, NK, and some
B cells. The clinical features of XLP are variable and include
fulminant infectious mononucleosis, lymphoma, and hypogam
maglobulinemia. Studies of the SH2D1A protein revealed impor¬
tant pathways regulating antiviral immunity. By interacting with
specific cell surface receptors, such as 2B4 (CD244), SLAM
(CD150), and NTB A, SH2D1A might regulate important aspects
of immune cell function, including NK cell cytotoxicity, T cell
proliferation, and Tj jl cytokine secretion. Abnormalities in
SH2D1A amino acid composition and protein expression levels
seem to cause aberrant lymphocyte activation, contributing to the
dysregulated immune response that characterizes XLP.
Autoimmune Lymphoprolif erative Syndrome: A Genetic
Disorder of Abnormal Lymphocyte Apoptosis 339
Jack J.H. Bleesing
Fas mediated apoptosis has an important role in the maintenance
of a homeostatic balance between lymphocyte survival and death.
This role is underscored by three consequences of a genetic dis¬
order of abnormal Fas mediated apoptosis, referred to as auto¬
immune lymphoproliferative syndrome. Abnormal proliferation
of lymphocytes increases the risk for malignancies and results in
lymphadenopathy, hepatosplenomegaly and hypersplenism,
failure to remove autoreactive lymphocytes (associated with
autoimmunity), and inappropriate survival of lymphocytes.
Immune Dysregulation, Polyendocrinopathy, Enteropathy,
X Linked Syndrome and the Scurfy Mutant Mouse 357
Hans D. Ochs, Roli Khattri, Craig L. Bennett, and
Mary E. Brunkow
IPEX is a rare X linked syndrome characterized by neonatal infan¬
tile insulin dependent diabetes mellitus, enteropathy, endocrino
pathy, eczema and severe infections with variable immune
dysfunction. Scurfy, an X linked lethal disorder of immune regula¬
tion, is the murine equivalent of IPEX, providing a model for the
human disease. The gene responsible for scurfy has recently been
identified by positional cloning. The scurfy/IPEX gene is a member
of a family of transcriptional regulators that have in common a
forkhead winged helix DNA binding domain. The cloning of the
human ortholog of the mouse gene confirmed that FOXP3 codes
for the immune specific DNA binding protein responsible for IPEX.
Missense and nonsense mutations, microdeletions, elimination of the
downstream stop codon and mutations of the polyadenylation sig¬
nal have been identified in affected members of families with clas¬
sic IPEX. It has been suggested that FOXP3 acts as a trascriptional
repressor in vivo. Treatment with Cyclosporin A or FK506
improves the clinical course and HLA identical bone
marrow transplantation appears to provide a permanent cure.
Index 369
viii CONTENTS
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| spellingShingle | Genetics of allergic and immunoregulatory disorders Immunology and allergy clinics of North America Allergy Genetic aspects Immune response Regulations Immunologic diseases Genetic aspects Genetik (DE-588)4071711-2 gnd Allergie (DE-588)4001257-8 gnd Immunsystem (DE-588)4026643-6 gnd Krankheit (DE-588)4032844-2 gnd Regulation (DE-588)4049075-0 gnd |
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| title | Genetics of allergic and immunoregulatory disorders |
| title_auth | Genetics of allergic and immunoregulatory disorders |
| title_exact_search | Genetics of allergic and immunoregulatory disorders |
| title_full | Genetics of allergic and immunoregulatory disorders Kathleen E. Sullivan ..., guest eds. |
| title_fullStr | Genetics of allergic and immunoregulatory disorders Kathleen E. Sullivan ..., guest eds. |
| title_full_unstemmed | Genetics of allergic and immunoregulatory disorders Kathleen E. Sullivan ..., guest eds. |
| title_short | Genetics of allergic and immunoregulatory disorders |
| title_sort | genetics of allergic and immunoregulatory disorders |
| topic | Allergy Genetic aspects Immune response Regulations Immunologic diseases Genetic aspects Genetik (DE-588)4071711-2 gnd Allergie (DE-588)4001257-8 gnd Immunsystem (DE-588)4026643-6 gnd Krankheit (DE-588)4032844-2 gnd Regulation (DE-588)4049075-0 gnd |
| topic_facet | Allergy Genetic aspects Immune response Regulations Immunologic diseases Genetic aspects Genetik Allergie Immunsystem Krankheit Regulation Aufsatzsammlung |
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