Diagnostik des variablen Immundefektsyndroms (CVID) - Karger

Indikationen
9 Kanegane H,Tsukada S,Iwata T,Futatani T, Nomura K,Yamamoto J, Yoshida T, Agematsu K, Komiyama
A,Miyawaki T: Detection of Bruton’s tyrosine kinase mutations inhypogammaglobulinaemic
males registered as commonvariable immunodeficiency (CVID) inthe Japanese Immunodeficiency Registry.
ClinExp Immunol 2000;120:512– 517.
10 Durandy A, Revy P, Fischer A: Human models ofinherited immunoglobulin class switchrecombination
andsomatichypermutation defects (hyper-IgMsyndromes).AdvImmunol 2004;82:295 – 330.
11 Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, Eibel H, Fischer B, Schaffer
AA, Mages HW, Kroczek RA, Peter HH: Homozygous loss ofICOS is associated with adult-onset
commonvariableimmunodeficiency. NatImmunol 2003;4:261 – 268.
12 Hutloff A, Dittrich AM, Beier KC, Eljaschewitsch B, Kraft R, Anagnostopoulos I, Kroczek RA: ICOS
is an inducible T-cell co-stimulator structurally and functionally related to CD28. Nature
1999;397:263 – 266.
13 Engel P, Eck MJ, Terhorst C: The SAP and SLAM families inimmuneresponses and X-linked lymphoproliferativedisease.NatRevImmunol
2003;3:813– 821.
14 Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G, Eibel H, Schlesier M, Peter HH:
Severe deficiency ofswitched memory Bcells (CD27þ IgM IgD )insubgroups ofpatients with
common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood
2002;99:1544 – 1551.
15 PiquerasB, Lavenu-Bombled C, GalicierL, Bergeron-vanderCruyssenF, Mouthon L, ChevretS, Debre
P, Schmitt C, Oksenhendler E: Common variable immunodeficiency patient classification based on impaired
Bcell memory differentiation correlateswithclinicalaspects.JClinImmunol 2003;23:385– 400.
16 Aukrust P, Lien E, Kristoffersen AK, Muller F, Haug CJ, Espevik T, Froland SS: Persistent activation of
the tumor necrosis factor system inasubgroup of patients with common variable immunodeficiency –
possibleimmunologicandclinicalconsequences. Blood1996;87:674 – 681.
17 Bryant A, Calver NC, Toubi E, Webster AD, Farrant J: Classification of patients with commonvariable
immunodeficiency by Bcell secretion of IgM and IgG in response to anti-IgM and interleukin-2. Clin
Immunol Immunopathol 1990;56:239 – 248.
18 Ferry BL, Jones J, Bateman EA, Woodham N, Warnatz K, Schlesier M, Misbah SA, Peter HH, Chapel
HM: Measurement of peripheral Bcell subpopulations incommon variable immunodeficiency (CVID)
usingawholebloodmethod.Clin. Exp Immunol 2005;140:532– 539.
19 Klein U, Kuppers R, Rajewsky K: Evidence for alarge compartment ofIgM-expressing memory Bcells
in humans.Blood1997;89:1288– 1298.
20 Carsetti R, Rosado MM, Wardmann H: Peripheral development of Bcells inmouse and man. Immunol
Rev2004;197:179 – 191.
21 Odendahl M, Jacobi A, Hansen A, Feist E, Hiepe F,Burmester GR, Lipsky PE, Radbruch A, Dorner T:
Disturbed peripheral B lymphocyte homeostasis in systemic lupus erythematosus. J Immunol
2000;165:5970 – 5979.
740 Warnatz/Schlesier