| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A new form of Osteoclast poor Osteopetrosis due to mutations in RANK gene (ESID Parallel Session Ib: Innate immunity)
|
Villa, A.
|
|
2009
|
30 |
S1 |
p. 4-5
2 p.
|
article
|
| 2 |
A novel clinical syndrome associating severe congenital neutropenia and complex development aberrations caused by deficiency of G6PC3 (ESID Plenary Session VI: Novel Primary Immunodeficiencies and Late breakers)
|
Boztug, K.
|
|
2009
|
30 |
S1 |
p. 8-
1 p.
|
article
|
| 3 |
Antibody-deficiency and acute nephritic syndrome in a patient with homozygous disruption of CD81 gene (ESID Plenary Session VI: Novel Primary Immunodeficiencies and Late breakers)
|
van Zelm, M.C.
|
|
2009
|
30 |
S1 |
p. 17-
1 p.
|
article
|
| 4 |
A unique haplotype of the MUNC13 - 4 gene associated with familial Hemophagocytic lymphohistiocytosis and macrophage activation syndrome in systemic juvenile idiopathic arthritis. (ESID Plenary Session II: Extended frontiers in immunodeficiency)
|
Zhang, K.Z.
|
|
2009
|
30 |
S1 |
p. 6-
1 p.
|
article
|
| 5 |
Chronic mucocutaneaous candidiasis is associated with a homozygous mutation in CARD9 (ESID Plenary Session VI : Novel Primary Immunodeficiencies and Late breakers)
|
Grimbacher, B.
|
|
2009
|
30 |
S1 |
p. 18-
1 p.
|
article
|
| 6 |
Complement factor B deficiency associated with recurrent meningitis (Educational Day Session IV: infectious diseases/PID)
|
Haerynck, F.
|
|
2009
|
30 |
S1 |
p. 15-
1 p.
|
article
|
| 7 |
Hematopoietic stem cell gene therapy for Wiskott Aldrich syndrome (ESID Parallel Session IIIc: Stem cell regeneration)
|
Boztug, K.
|
|
2009
|
30 |
S1 |
p. 2-
1 p.
|
article
|
| 8 |
Hemolytic uremic syndrome - a primary immunodeficiency? (ESID plenary session II: extended frontiers in immunodeficiency)
|
Botto, M.
|
|
2009
|
30 |
S1 |
p. 15-16
2 p.
|
article
|
| 9 |
Human adenylate kinase 2 deficiency causes a very profound haematopoietic defect associated with sensorineural deafness (Reticular Dysgenesis) (ESID Plenary Session VI: Novel Primary Immunodeficiencies and Late breakers)
|
Cavazzana-Calvo, M.C.C.
|
|
2009
|
30 |
S1 |
p. 7-
1 p.
|
article
|
| 10 |
Human CD27 deficiency:A novel immune-deficiency causing EBV induced lymphoproliferative disease (ESID Plenary Session VI: Novel Primary Immunodeficiencies and Late breakers)
|
van Montfrans, J.M.
|
|
2009
|
30 |
S1 |
p. 9-
1 p.
|
article
|
| 11 |
Human CD20 deficiency impairs the ability to mount T cell independent antibody responses. (ESID Parallel Session IVa: New insights in B-cell development)
|
Kuijpers, T.W.
|
|
2009
|
30 |
S1 |
p. 17-
1 p.
|
article
|
| 12 |
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination (ESID Parallel Session IVa : New insights in B-cell development)
|
Durandy, A.
|
|
2009
|
30 |
S1 |
p. 13-
1 p.
|
article
|
| 13 |
HyperIgM syndrome complicated with colorectal carcinoma in a patient with neurofibromatosis-like skin lesions – Poster
|
Metin, A.
|
|
2009
|
30 |
S1 |
p. 13-14
2 p.
|
article
|
| 14 |
Identification of novel genes underlying the development of herpes simplex encephalitis (ESID Parallel Session Ib: Innate immunity)
|
Sancho-Shimizu, V.
|
|
2009
|
30 |
S1 |
p. 3-
1 p.
|
article
|
| 15 |
IL1-RA defect: a new hereditary auto-inflammatory disease (ESID Plenary Session II: Extended frontiers in immunodeficiency)
|
Joost, F.
|
|
2009
|
30 |
S1 |
p. 10-
1 p.
|
article
|
| 16 |
Immune reconstitution in ADA-SCID patients treated with hematopoietic stem cell gene therapy (ESID Parallel Session IIIc: Stem cell regeneration)
|
Brigida, I.
|
|
2009
|
30 |
S1 |
p. 1-
1 p.
|
article
|
| 17 |
Impaired ex vivo IFN production in a patient with severe varicella (ESID Plenary Session II: Extended frontiers in immunodeficiency)
|
Zhang, S.Y.
|
|
2009
|
30 |
S1 |
p. 3-
1 p.
|
article
|
| 18 |
Kindlin 3 - A new gene involved in the pathogenesis of LAD III
|
Mori, A.
|
|
2009
|
30 |
S1 |
p. 11-12
2 p.
|
article
|
| 19 |
LAD-1/variant syndrome is caused by mutations in FERMT3
|
Kuijpers, T.W.
|
|
2009
|
30 |
S1 |
p. 12-
1 p.
|
article
|
| 20 |
Macrophage activation syndrome (ESID Parallel Session IIIa: Migration and Regulation)
|
Janka-Schaub, G.
|
|
2009
|
30 |
S1 |
p. 6-
1 p.
|
article
|
| 21 |
Severe score 5 WAS in infants: clinical and biological presentation and outcome. Analysis of the French National registry/CEREDIH Network (ESID Parallel Session Ib: Innate immunity)
|
Mahlaoui, N.
|
|
2009
|
30 |
S1 |
p. 1-2
2 p.
|
article
|
| 22 |
Update in Epidemiology of Primary immunodeficiencies in Europe
|
Grimbacher, B.
|
|
2009
|
30 |
S1 |
p. 19-
1 p.
|
article
|
Journal description