Primary immunodeficiency diseases: a molecular and genetic approach
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Oxford ; New York
Oxford University Press
2014
|
| Edition: | 3. ed |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Item Description: | Includes bibliographical references and index |
| Physical Description: | xviii, 911 p., [32] p. of plates ill. (some col.) 29 cm |
| ISBN: | 9780195389838 9780199971039 |
Staff View
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| 500 | |a Includes bibliographical references and index | ||
| 650 | 4 | |a Immunologic Deficiency Syndromes |x genetics | |
| 650 | 4 | |a Immunological deficiency syndromes |x Genetic aspects | |
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Record in the Search Index
| _version_ | 1804151986780635136 |
|---|---|
| adam_text | CONTENTS
Foreword
Contributors
vu
xiii
1.
Genetically Determined Immunodeficiency Diseases:
A Perspective
1
C.
/.
Edvard
Smith, Hans D. Ochs, and Jennifer
M. Puck
2.
Genetic Principles and Technologies in
the Study of Immune Disorders
21
Jennifer M. Puck and Robert L. Nussbaum
3.
Mammalian Hematopoietic Development
and Function
34
GeraldJ.
Spangrude
4.
T-
Cell Development
47
Juan Carlos
Ziiniga-Pßücker,
Rae
Ytung,
Pam
Ohashi,
and Tak
W Mak
5.
Molecular Mechanisms Guiding B-Ccll
Development
68
Antonius
G.
Relink andRoxane Tussiwand
6.
Signal Transduction by T- and B-Lymphocyte
Antigen Receptors
79
Anthony DeFranco and Arthur Weiss
7.
Lymphoid Organ Development, Cell Trafficking, and
Lymphocyte Responses
105
Sirpajalkanen and
Marko
Salmi
8.
Innate Immunity
117
Jordan S. Orange, Michael M. Frank,
and Stuart E. Turvey
9.
Introduction to Severe Combined Immunodeficiency
(SCID) and Combined Immunodeficiency
(CID)
131
Jennifer
M.
Puck
10.
Severe Combined Immunodeficiency and Combined
Immunodeficiency Due to Cvtoldne Signaling Defects
(IURCJAIG, ¿ R,
1L2RÃ,
JAK3, and STAT5b)
134
Jennifer M. Puck,
Fabio
Candoth,
Luigi
D. Xotarangelo,
and Chaim Roifman
11.
Т
-Cell
Receptor Complex Deficiency
156
JoseR.
Regueiro
and
Mariaj.
Recio
12.
Severe Combined Immunodeficiency Due to
Mutations in the CD45 Gene
163
TaUl
Chatila
and Jennifer M. Puck
13.
V(D)J Recombination Defects
168
Jean-Pierre
de Villartay, Mirjam
van
der
Burg, Klaus
Schwarz,
and Anna Villa
14.
Immunodeficiency Due to Defects
of
Purine
Metabolism
188
Rochelle Hirschhorn,
Eyal Grunebaum,
Chaim Roifman, and
Fabio Candotti
15.
SCID Due to Defects in T-Cell-Receptor-Associated
Protein Kinases
(
Z
AP-70 and
Lek)
231
Naomi Taylor and Melissa E. Elder
16.
Molecular Basis of Major Histocompatibility Complex
Class II Deficiency
241
Walter Reith,
Capucine
Picard,
and Alain Fischer
17.
Peptide
Transporter Defects in Human
Leukocyte Antigen Class I Deficiency
258
Henri
de la Salle,
Lionel
Donato,
and Daniel
Hanau
18.
Reticular
Dysgenesis
269
Wilhelm Friedrich,
Manfred Hoenig,
Ulrich Pannicke,
and Klaus
Schwarz
19.
CD8 Deficiency
274
Teresa
Español
and Esther
Mancebo
20.
CRAC Channelopathies Due
to
Mutations in ORAIl and
STIMI
279
Stefan Feske
21.
Deficiency of FOXN1
286
Claudio Pignata,
Anna
Fusco,
and
Stefania
Amorosi
22.
Chronic Mucocutaneous Candidiasis and
Susceptibility to Fungal Infections
Due to Defects in CARD9 and Dectin-
1 291
Bodo
Grimbacher
23.
Severe Combined Immunodeficiency Due to Absent
Coronin-IA
294
Lawrence R. Shiow, Kenneth Paris, and Jennifer M. Puck
24.
Brief Introduction to B-Lymphocyte Defects
297
C. I. Edvard
Smith
25-
Х
-linked Agammaglobulinemia and Autosomal
Recessive Agammaglobulinemia
299
C. I.
Edvard
Smith and Mary Ellen Conley
26.
CD40 and CD40 Ligand Deficiencies
324
Luigi
D,
Notarangelo, Silvia Giliani,
and
Alessandro
Plebani
27. Autosomal Ig CSR
Deficiencies Caused by
an
Intrinsic B-Cell Defect
Anne Durandy, Sven Kracker,
Pauline Gardes,
and
Alain Fischer
343
28.
Genetic Approach to Common Variable
Immunodeficiency and IgA Deficiency
356
Lennart Hammarström
29.
Introduction to Syndromes of Immune
Dys
regulation
and Autoimmunity
366
Hans
D
. Ochs
and Jennifer
M.
Puck
30.
Autoimmune Lymphoproliferative Syndrome
368
Thomas A. Fleisher, Frederic Rieux-Laucat,
and Jennifer M. Puck
31.
Autoimmune Polyglandular Syndrome Type
1 387
Maureen
A. Su
and Mark S. Anderson
32.
Immune Dysregulation, Polyendocrinopathy,
Enteropathy, and
Х
-Linked Inheritance
395
Troy R. Torgerson,
Eleonora Gambineri,
and Hans D. Ocbs
414
33.
Recurrent Fever Syndromes
Lori
Broderick,
Daniel
L.
Kastner,
and Hal
M.
Hoffman
34.
Introduction to Innate Immunity and
Syndromie
Primary Immunodeficiency Disorders
448
Jean-Laurent
Casanova
35.
Inherited Disorders of the Interleukin-
^-Interieukin^/Interferon-Gamma Circuit
450
Steven M. Holland and Jean-Laurent Casanova
36.
Inborn Errors of NF-kB Immunity. Genetic,
Immunological, and Clinical Heterogeneity
467
Capucine Picard,
Jordan
S.
Orange, Anne Puel,
Shen-Ying Zhang, and Jean-Laurent Casanova
37.
Cartilage-Hair Hypoplasia
484
Outi
Mäkitie
38.
Hyper-IgE Recurrent Infection Syndromes
489
Alexandra F. Freeman,
Bodo Grimbacher, Karin R.
Engelhardt, Steven Holland, and Jennifer M. Puck
39.
Hepatic Veno-Occlusive Disease with
Immunodeficiency
501
Tony Roscioli and
Melanie
Wong
40.
WHIM Syndrome
509
George A. Diaz
41.
Pulmonary Alveolar Proteinosis
520
Litici
D.
Notarangelo
42.
Role of
TMC6
and TMC8 Genes and EVER
Proteins in Epidermodysplasia Verruciformis
Maciej Lazarczyk,
Patricia Cassonnet,
and Michel Favre
43.
Wiskott-Aldrich Syndrome
Hans D. Ochs and
Luigi
D. Notarangelo
525
531
44.
Х
-Linked Lymphoproliferative Diseases
557
Volker
Schuster and
Sylvain
Latour
45.
DiGeorge
Syndrome: A Chromosome 22ql
1.2
Deletion Syndrome
580
Deborah A, Driscoll and Kathleen E. Sullivan
46.
Introduction to Disorders Associated with
DNA
Repair and Methylation Defects
593
Mark
0
Driscoll ana Penny A.Jeggo
47.
Ataxia-Telangiectasia
602
Leman
Yel, Martin F.
Lavin,
and YosefShiloh
48.
Chromosomal Instability Syndromes Other
than Ataxia-Telangiectasia
632
Rolf Dieter Wegner, James J. German,
Krystyna
H.
Chrzanowska,
Martin Digweed, and
Markus
Stumm
49.
Immunodeficiency with Centromere Instability
and Facial Anomalies (ICF Syndrome)
662
R. Scott
Hansen,
CorryM. R. Weemaes,
andSilvère
M.
van
der Maarel
50.
Introduction to Granulocyte Disorders
672
Karl Weite,
Cornelia Zeidler, and David C. Dale
51.
Severe Congenital Neutropenia
677
Christoph
Klein
52.
Chronic Granulomatous Disease
689
Dirk Roos,
Steven M. Holland, and
Taco W.
Kuijpers
53.
Cell Adhesion and Leukocyte Adhesion Defects
723
Amos Etzioni and
Ronen
Alón
54.
Inherited Hemophagocytic Lymphohistiocytosis
Syndromes
742
Geneviève de
Saint
Basile
55.
Genetically Determined Deficiencies
of Complement Components
757
Kathleen E. Sullivan and Jerry A.
Winkelstein
56.
Assessment of the Immune System
780
Francisco
A. Bonilla
and Klaus Warnatz
57.
Genetic Aspects of Primary Immunodeficiencies
807
Jennifer M. Puck
58.
Immunodeficiency Information Resources
821
Crina
Samarghitean, Jouni Va liaho,
and
Mauno Vihinen
59.
Conventional Therapy of Primary Immunodeficiency
Diseases
833
E. Richard Stiehm and Helen M. Chapel
60.
Bone Marrow Transplantation for Primary
Immunodeficiency Diseases
854
Rebecca H. Buckley,
Despina
Moshous, and Alain Fischer
61.
Gene Therapy
876
Fabio Candotti
and Alain Fischer
Index
899
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| indexdate | 2024-07-10T01:03:32Z |
| institution | BVB |
| isbn | 9780195389838 9780199971039 |
| language | English |
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| physical | xviii, 911 p., [32] p. of plates ill. (some col.) 29 cm |
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| publisher | Oxford University Press |
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| spelling | Primary immunodeficiency diseases a molecular and genetic approach edited by Hans D. Ochs ... 3. ed Oxford ; New York Oxford University Press 2014 xviii, 911 p., [32] p. of plates ill. (some col.) 29 cm txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references and index Immunologic Deficiency Syndromes genetics Immunological deficiency syndromes Genetic aspects Primärer Immundefekt (DE-588)4210226-1 gnd rswk-swf Genetik (DE-588)4071711-2 gnd rswk-swf Immunkrankheit (DE-588)4161385-5 gnd rswk-swf Immundefekt (DE-588)4026622-9 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Immunkrankheit (DE-588)4161385-5 s DE-604 Immundefekt (DE-588)4026622-9 s Primärer Immundefekt (DE-588)4210226-1 s Genetik (DE-588)4071711-2 s Ochs, Hans D. 1936- Sonstige (DE-588)141961775 oth Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027160315&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Primary immunodeficiency diseases a molecular and genetic approach Immunologic Deficiency Syndromes genetics Immunological deficiency syndromes Genetic aspects Primärer Immundefekt (DE-588)4210226-1 gnd Genetik (DE-588)4071711-2 gnd Immunkrankheit (DE-588)4161385-5 gnd Immundefekt (DE-588)4026622-9 gnd |
| subject_GND | (DE-588)4210226-1 (DE-588)4071711-2 (DE-588)4161385-5 (DE-588)4026622-9 (DE-588)4143413-4 |
| title | Primary immunodeficiency diseases a molecular and genetic approach |
| title_auth | Primary immunodeficiency diseases a molecular and genetic approach |
| title_exact_search | Primary immunodeficiency diseases a molecular and genetic approach |
| title_full | Primary immunodeficiency diseases a molecular and genetic approach edited by Hans D. Ochs ... |
| title_fullStr | Primary immunodeficiency diseases a molecular and genetic approach edited by Hans D. Ochs ... |
| title_full_unstemmed | Primary immunodeficiency diseases a molecular and genetic approach edited by Hans D. Ochs ... |
| title_short | Primary immunodeficiency diseases |
| title_sort | primary immunodeficiency diseases a molecular and genetic approach |
| title_sub | a molecular and genetic approach |
| topic | Immunologic Deficiency Syndromes genetics Immunological deficiency syndromes Genetic aspects Primärer Immundefekt (DE-588)4210226-1 gnd Genetik (DE-588)4071711-2 gnd Immunkrankheit (DE-588)4161385-5 gnd Immundefekt (DE-588)4026622-9 gnd |
| topic_facet | Immunologic Deficiency Syndromes genetics Immunological deficiency syndromes Genetic aspects Primärer Immundefekt Genetik Immunkrankheit Immundefekt Aufsatzsammlung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027160315&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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