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1

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Seidel, Markus G., Kindle, Gerhard, Gathmann, Benjamin, Quinti, Isabella, Buckland, Matthew, van Montfrans, Joris, Scheible, Raphael, Rusch, Stephan, Gasteiger, Lukas M., Grimbacher, Bodo, Mahlaoui, N

Journal:

The Journal of Allergy and Clinical Immunology: In Practice

Year:

2019

Language:

english

File:

PDF, 1.12 MB

english, 2019

2

Design of a Dual-Band Frequency Reconfigurable Patch Antenna Based on Characteristic Modes

Mahlaoui, Zakaria, Antonino-Daviu, Eva, Latif, Adnane, Ferrando-Bataller, Miguel

Journal:

International Journal of Antennas and Propagation

Year:

2019

Language:

english

File:

PDF, 20.93 MB

english, 2019

3

Le syndrome de Wiskott-Aldrich. Une maladie à présentation variable : du diagnostic aux traitements

Pellier, I., Mahlaoui, N., Fischer, A.

Journal:

Revue d'Oncologie Hématologie Pédiatrique

Year:

2015

Language:

french

File:

PDF, 567 KB

french, 2015

4

Congenital neutropenia: diagnosis, molecular bases and patient management

Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui, Christine Bellanné Chantelot

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 649 KB

english, 2011

5

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Minke H de Ru, Jaap J Boelens, Anibh M Das, Simon A Jones, Johanna H van der Lee, Nizar Mahlaoui, Eugen Mengel, Martin Offringa, Anne O’Meara, Rossella Parini, Attilio Rovelli, Karl-Walter Sykora, Vas

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 283 KB

english, 2011

6

L’ataxie-télangiectasie : évolution à long terme et risque néoplasique Étude du registre du centre de référence des déficits immunitaires héréditaires (CEREDIH)

F. Suarez, R. Micol, N. Mahlaoui, C. Andriamanga, O. Hermine, D. Stoppa-Lyonnet, A. Fischer

Journal:

Archives de Pédiatrie

Year:

2011

Language:

french

File:

PDF, 1.52 MB

french, 2011

7

Granulomatose septique chronique : ce que nous savons et ce que nous ne savons pas encore

N. Mahlaoui, F. Suarez, O. Hermine, O. Lortholary, S. Blanche, A. Fischer

Journal:

Archives de Pédiatrie

Year:

2011

Language:

french

File:

PDF, 1.52 MB

french, 2011

8

Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought

Bousfiha, Ahmed Aziz, Jeddane, Leïla, Ailal, Fatima, Benhsaien, Ibtihal, Mahlaoui, Nizar, Casanova, Jean-Laurent, Abel, Laurent

Journal:

Journal of Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 167 KB

english, 2013

9

Infections fongiques et granulomatose septique chronique

Desjardins, Anne, Coignard-Biehler, Hélène, Mahlaoui, Nizar, Frange, Pierre, Bougnoux, Marie-Elisabeth, Blanche, Stéphane, Fischer, Alain, Blumental, Sophie, Lortholary, Olivier

Journal:

médecine/sciences

Year:

2012

Language:

french

File:

PDF, 2.23 MB

french, 2012

10

The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)

H. B. Gaspar, L. Hammarström, N. Mahlaoui, M. Borte, S. Borte

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 140 KB

english, 2014

11

Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation

Valayannopoulos, V., de Blic, J., Mahlaoui, N., Stos, B., Jaubert, F., Bonnet, D., Fischer, A., de Lonlay, P.

Journal:

Year:

2010

Language:

english

File:

PDF, 3.21 MB

english, 2010

12

Multicentric Castleman Disease in an HHV8-Infected Child Born to Consanguineous Parents With Systematic Review

Leroy, S., Moshous, D., Cassar, O., Reguerre, Y., Byun, M., Pedergnana, V., Canioni, D., Gessain, A., Oksenhendler, E., Fieschi, C., Mahlaoui, N., Riviere, J.-P., Herbigneaux, R.-M., Muszlak, M., Arna

Journal:

Year:

2012

Language:

english

File:

PDF, 1.02 MB

english, 2012

13

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Bahi-Buisson, Nadia, Amiel, Jeanne, Picard, Capucine, Mahlaoui, Nizar, Benoit, Vincent, Burgun, Anita, Rance, Bastien

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

14

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

Odnoletkova, Irina, Kindle, Gerhard, Quinti, Isabella, Grimbacher, Bodo, Knerr, Viviane, Gathmann, Benjamin, Ehl, Stephan, Mahlaoui, Nizar, Van Wilder, Philippe, Bogaerts, Kris, de Vries, Esther

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.56 MB

english, 2018

15

Le Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH)

Julien Beauté, Nizar Mahlaoui, Yasmine Dudoit, Capucine Picard, Alain Fischer

Journal:

Revue Francophone des Laboratoires

Year:

2009

Language:

french

File:

PDF, 94 KB

french, 2009

16

Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies

J. Beauté, P. Levy, V. Millet, M. Debré, Y. Dudoit, L. Le Mignot, A. Tajahmady, C. Thomas, F. Suarez, I. Pellier, O. Hermine, N. Aladjidi, N. Mahlaoui, A. Fischer, the French PID study group CEREDIH

Journal:

Clinical & Experimental Immunology

Year:

2010

Language:

english

File:

PDF, 164 KB

english, 2010

17

Diagnostic contribution of positron emission tomography with [18F]fluorodeoxyglucose for invasive fungal infections

A. Hot, C. Maunoury, S. Poiree, F. Lanternier, J. P. Viard, P. Loulergue, H. Coignard, M. E. Bougnoux, F. Suarez, M. T. Rubio, N. Mahlaoui, B. Dupont, M. Lecuit, M. Faraggi, O. Lortholary

Journal:

Clinical Microbiology and Infection

Year:

2011

Language:

english

File:

PDF, 457 KB

english, 2011

18

Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

Soler, G, Radford-Weiss, I, Ben-abdelali, R, Mahlaoui, N, Ponceau, J F, Macintyre, E A, Vekemans, M, Bernard, O A, Romana, S P

Journal:

Year:

2007

Language:

english

File:

PDF, 124 KB

english, 2007

19

The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008

B. Gathmann, B. Grimbacher, J. Beauté, Y. Dudoit, N. Mahlaoui, A. Fischer, V. Knerr, G. Kindle

Journal:

Clinical & Experimental Immunology

Year:

2009

Language:

english

File:

PDF, 267 KB

english, 2009

20

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

Jaeger, B. N., Donadieu, J., Cognet, C., Bernat, C., Ordonez-Rueda, D., Barlogis, V., Mahlaoui, N., Fenis, A., Narni-Mancinelli, E., Beaupain, B.

Journal:

Journal of Experimental Medicine

Year:

2012

Language:

english

File:

PDF, 3.24 MB

english, 2012

21

A child with a systemic febrile illness – differential diagnosis and management

Michaël Hofer, Nizar Mahlaoui, Anne-Marie Prieur

Journal:

Best Practice & Research Clinical Rheumatology

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

22

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006)

Claire Booth, Mike Hershfield, Luigi Notarangelo, Rebecca Buckley, Manfred Hoenig, Nizar Mahlaoui, Marina Cavazzana-Calvo, Alessandro Aiuti, H. Bobby Gaspar

Journal:

Clinical Immunology

Year:

2007

Language:

english

File:

PDF, 324 KB

english, 2007

23

Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases

Nizar Mahlaoui, Veronique Minard-Colin, Capucine Picard, Alexandre Bolze, Cheng-Lung Ku, Olivier Tournilhac, Brigitte Gilbert-Dussardier, Brigitte Pautard, Philippe Durand, Denis Devictor, Eric Lachas

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 349 KB

english, 2011

24

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

Christine Trivin, Kanetee Busiah, Nizar Mahlaoui, Christophe Recasens, Jean-Claude Souberbielle, Michel Zerah, Christian Sainte-Rose, Raja Brauner

Journal:

Year:

2009

Language:

english

File:

PDF, 261 KB

english, 2009

25

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

Neven, B., Leroy, S., Decaluwe, H., Le Deist, F., Picard, C., Moshous, D., Mahlaoui, N., Debre, M., Casanova, J.-L., Dal Cortivo, L.

Journal:

Year:

2009

Language:

english

File:

PDF, 422 KB

english, 2009

26

Syndrome lymphoprolifératif auto-immun chez l’adulte : une cause rare mais sous-diagnostiquée de cytopénies auto-immunes

O. Lambotte, B. Neven, L. Galicier, N. Schleinitz, O. Hermine, N. Mahlaoui, C. Picard, B. Godeau, A. Fischer, F. Rieux-Laucat

Journal:

La Revue de Médecine Interne

Year:

2010

Language:

french

File:

PDF, 67 KB

french, 2010

27

Efficacité de la Thalidomide dans les manifestations inflammatoires de la granulomatose septique chronique

N. Noël, N. Mahlaoui, S. Blanche, F. Suarez, H. Coignard-Biehler, O. Hermine, A. Fischer, O. Lortholary

Journal:

La Revue de Médecine Interne

Year:

2011

Language:

french

File:

PDF, 63 KB

french, 2011

28

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)

Journal:

La Revue de Médecine Interne

Year:

2009

Language:

french

File:

PDF, 146 KB

french, 2009

29

Explorations immunitaires chez l’enfant suivi pour infections respiratoires récurrentes

Journal:

Archives de Pédiatrie

Year:

2007

Language:

french

File:

PDF, 217 KB

french, 2007

30

SFCE-P19 – Cancérologie – Lymphome de Burkitt après transplantation d’organe en pédiatrie

S. Cohen Gogo, J. Landman-Parker, Y. Bertrand, B. Nelken, C. Schmitt, P. Lutz, G. Michel, N. Mahlaoui, G. Couillault, J. Clavel, C. Patte

Journal:

Archives de Pédiatrie

Year:

2008

Language:

french

File:

PDF, 97 KB

french, 2008

31

Infections fongiques et déficits immunitaires héréditaires

J. Bustamante, N. Mahlaoui, J.-L. Casanova, S. Blanche

Journal:

Archives de Pédiatrie

Year:

2011

Language:

french

File:

PDF, 338 KB

french, 2011

32

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Guillaume Vogt, Jacinta Bustamante, Ariane Chapgier, Jacqueline Feinberg, Stephanie Boisson-Dupuis, Capucine Picard, Nizar Mahlaoui, Laure Gineau, Alexandre Alcaïs, Christophe Lamaze, Jennifer M. Puck

Journal:

Journal of Biotechnology

Year:

2008

Language:

english

File:

PDF, 315 KB

english, 2008

33

Differences in Ig Replacement Therapy Dosing in Patients with Common Variable Immunodeficiency in Europe: Results from the ESID Database

Gathmann, B., Mahlaoui, N., Warnatz, K., Kuijpers, T.W., Kilic, S.S., Thon, V., Arkwright, P.D., Kumararatne, D., Exley, A., Borte, M.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 43 KB

english, 2011

34

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Micol, Romain, Ben Slama, Lilia, Suarez, Felipe, Le Mignot, Loïc, Beauté, Julien, Mahlaoui, Nizar, Dubois d’Enghien, Catherine, Laugé, Anthony, Hall, Janet, Couturier, Jérôme, Vallée, Louis, Delobel,

Journal:

Journal of Allergy and Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 393 KB

english, 2011

35

Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia

Micol, Romain, Kayal, Samer, Mahlaoui, Nizar, Beauté, Julien, Brosselin, Pauline, Dudoit, Yasmine, Obenga, Gaëlle, Barlogis, Vincent, Aladjidi, Nathalie, Kebaili, Kamila, Thomas, Caroline, Dulieu, Fab

Journal:

Journal of Allergy and Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 499 KB

english, 2012

36

Vaccination des patients ayant un déficit immunitaire héréditaire

Mahlaoui, N., Moulin, F., Launay, O., Gaudelus, J.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 591 KB

french, 2013

37

Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study

Audrain, Marie, Thomas, Caroline, Mirallie, Sophie, Bourgeois, Nathalie, Sebille, Véronique, Rabetrano, Hasina, Durand-Zaleski, Isabelle, Boisson, Rachel, Persyn, Mathieu, Pierres, Cécile, Mahlaoui, N

Journal:

Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 233 KB

english, 2014

38

Enterobacter cloacaepyomyositis complicating chronic granulomatous disease and review of gram-negative bacilli pyomyositis

Gousseff, M., Lanternier, F., Ferroni, A., Chandesris, O., Mahlaoui, N., Hermine, O., Lortholary, O., Lecuit, M.

Journal:

European Journal of Clinical Microbiology & Infectious Diseases

Year:

2013

Language:

english

File:

PDF, 147 KB

english, 2013

39

Epidemiology of Congenital Neutropenia

Donadieu, Jean, Beaupain, Blandine, Mahlaoui, Nizar, Bellanné-Chantelot, Christine

Journal:

Hematology/Oncology Clinics of North America

Year:

2013

Language:

english

File:

PDF, 142 KB

english, 2013

40

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Gathmann, Benjamin, Mahlaoui, Nizar, Gérard, Laurence, Oksenhendler, Eric, Warnatz, Klaus, Schulze, Ilka, Kindle, Gerhard, Kuijpers, Taco W., van Beem, Rachel T., Guzman, David, Workman, Sarita, Soler

Journal:

Journal of Allergy and Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 477 KB

english, 2014

41

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I., Vidaud, M., Abel, U., Dal-Cortivo, L., Caccavelli, L., Mahlaoui, N., Kiermer, V., Mittelstaedt, D., Belles

Journal:

Year:

2009

Language:

english

File:

PDF, 741 KB

english, 2009

42

Évaluation médico-économique de la prise en charge hospitalière des déficits immunitaires combinés sévères (DICS) selon l’âge au moment de la greffe de moelle osseuse

Clément, M.-C., Le Bihan, C., Mignot, C., Mahlaoui, N., Fischer, A., Durand-Zaleski, I.

Journal:

Revue d'Épidémiologie et de Santé Publique

Year:

2014

Language:

french

File:

PDF, 267 KB

french, 2014

43

Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: A retrospective case series

Noel, Nicolas, Mahlaoui, Nizar, Blanche, Stéphane, Suarez, Felipe, Coignard-Biehler, Hélène, Durieu, Isabelle, Godeberge, Philippe, Sokol, Harry, Catherinot, Emilie, Poiree, Sylvain, Chapdelaine, Hugo

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 844 KB

english, 2013

44

Une cause rare de tuméfaction faciale

Mahlaoui, J., Ech-Cherif El Kettani, N., Fikri, M., El Hassani, M.R., Jiddane, M.

Journal:

Revue de Stomatologie et de Chirurgie Maxillo-faciale

Year:

2012

Language:

french

File:

PDF, 469 KB

french, 2012

45

Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency

Bodemer, C., Sauvage, V., Mahlaoui, N., Cheval, J., Couderc, T., Leclerc-Mercier, S., Debré, M., Pellier, I., Gagnieur, L., Fraitag, S., Fischer, A., Blanche, S., Lecuit, M., Eloit, M.

Journal:

Clinical Microbiology and Infection

Year:

2014

Language:

english

File:

PDF, 325 KB

english, 2014

46

D-01: DIHosp – Motifs d’hospitalisation en urgence de patients porteurs de déficits immunitaires héréditaires

Coignard-Biehler, H., Mahlaoui, N., Brosselin, P., de Vergnes, N., Barlogis, V., Lortholary, O., Fischer, A.

Journal:

Médecine et Maladies Infectieuses

Year:

2014

Language:

french

File:

PDF, 158 KB

french, 2014

47

SFP CO-03 - Syndrome de Di George et manifestations auto immunes, à propos de 15 cas

Freychet, C., Debre, M., Bader Meunier, B., Lemelle, I., Pagnier, A., Taque, S., Munzer, M., Jeziorski, E., Hatchuel, Y., Launay, D., Quartier, P., Mahlaoui, N., Stephan, J.L.

Journal:

Archives de Pédiatrie

Year:

2014

Language:

french

File:

PDF, 36 KB

french, 2014

48

Invasive Mold Infections in Chronic Granulomatous Disease: A 25-Year Retrospective Survey

Blumental, S., Mouy, R., Mahlaoui, N., Bougnoux, M.-E., Debre, M., Beaute, J., Lortholary, O., Blanche, S., Fischer, A.

Journal:

Clinical Infectious Diseases

Year:

2011

Language:

english

File:

PDF, 254 KB

english, 2011

49

Dépistage néonatal des déficits immunitaires combinés sévères : présentation de l’étude DEPISTREC

Thomas, C., Mirallié, S., Pierres, C., Dert, C., Mahlaoui, N., Audrain, M.

Journal:

La Revue Sage-Femme

Year:

2014

File:

PDF, 327 KB

2014

50

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Vogt, G., Bustamante, J., Chapgier, A., Feinberg, J., Boisson Dupuis, S., Picard, C., Mahlaoui, N., Gineau, L., Alcais, A., Lamaze, C., Puck, J. M., de Saint Basile, G., Khayat, C. D., Mikhael, R., Ca

Journal:

Journal of Experimental Medicine

Year:

2008

Language:

english

File:

PDF, 2.26 MB

english, 2008

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