Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 113

1.

The NEW ESID Online Database Network.

Scheible R, Rusch S, Guzman D, Mahlaoui N, Ehl S, Kindle G.

Bioinformatics. 2019 Jul 2. pii: btz525. doi: 10.1093/bioinformatics/btz525. [Epub ahead of print]

PMID:
31263866
2.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, Nougues MC, Ioos C, Rougeot C, Masurel A, Bourjault C, Ginglinger E, Prieur F, Siri A, Bordigoni P, Nguyen K, Philippe N, Bellesme C, Demeocq F, Altuzarra C, Mathieu-Dramard M, Couderc F, Dörk T, Auger N, Parfait B, Abidallah K, Moncoutier V, Collet A, Stoppa-Lyonnet D, Stern MH.

Hum Mutat. 2019 May 3. doi: 10.1002/humu.23778. [Epub ahead of print]

PMID:
31050087
3.

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.

Thomas C, Durand-Zaleski I, Frenkiel J, Mirallié S, Léger A, Cheillan D, Picard C, Mahlaoui N, Riche VP, Roussey M, Sébille V, Rabetrano H, Dert C, Fischer A, Audrain M.

Clin Immunol. 2019 May;202:33-39. doi: 10.1016/j.clim.2019.03.012. Epub 2019 Apr 1.

PMID:
30946917
4.

Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.

Duréault A, Tcherakian C, Poiree S, Catherinot E, Danion F, Jouvion G, Bougnoux ME, Mahlaoui N, Givel C, Castelle M, Picard C, Chansdesris MO, Lortholary O, Lanternier F; French Mycoses Study Group.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1986-1995.e3. doi: 10.1016/j.jaip.2019.02.041. Epub 2019 Mar 13.

PMID:
30878710
5.

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

Leclerc-Mercier S, Moshous D, Neven B, Mahlaoui N, Martin L, Pellier I, Blanche S, Picard C, Fischer A, Perot P, Eloit M, Fraitag S, Bodemer C.

J Eur Acad Dermatol Venereol. 2019 Jul;33(7):1412-1420. doi: 10.1111/jdv.15568. Epub 2019 Apr 15.

PMID:
30869812
6.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP.

J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28.

PMID:
30819809
7.

Lymphoproliferative disease in patients with Wiskott-Aldrich syndrome: Analysis of the French Registry of Primary Immunodeficiencies.

Cheminant M, Mahlaoui N, Desconclois C, Canioni D, Ysebaert L, Dupré L, Vasconcelos Z, Malphettes M, Moshous D, Neven B, Rohrlich PS, Bernard M, Bertrand Y, Fischer A, Suarez F.

J Allergy Clin Immunol. 2019 Jun;143(6):2311-2315.e7. doi: 10.1016/j.jaci.2019.01.046. Epub 2019 Feb 20. No abstract available.

PMID:
30796981
8.

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

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15.

PMID:
30776527
9.

Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency.

Magnani A, Jouannic JM, Rosain J, Gabrion A, Touzot F, Roudaut C, Kracker S, Mahlaoui N, Toubert A, Clave E, Macintyre EA, Radford-Weiss I, Alcantara M, Magrin E, Ternaux B, Nisoy J, Caccavelli L, Darras AM, Picard C, Blanche S, Cavazzana M.

Blood Adv. 2019 Feb 12;3(3):237-241. doi: 10.1182/bloodadvances.2018023176. No abstract available.

10.

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.

Bucciol G, Nicholas SK, Calvo PL, Cant A, Edgar JDM, Español T, Ferrua F, Galicchio M, Gennery AR, Hadzic N, Hanson IC, Kusminsky G, Lange A, Lanternier F, Mahlaoui N, Moshous D, Nademi Z, Neven B, Oleastro M, Porta F, Quarello P, Silva M, Slatter MA, Soncini E, Stefanowicz M, Tandoi F, Teisseyre M, Torgerson TR, Veys P, Weinacht KG, Wolska-Kuśnierz B, Pirenne J, de la Morena MT, Meyts I.

J Allergy Clin Immunol. 2019 May;143(5):1952-1956.e6. doi: 10.1016/j.jaci.2018.12.1013. Epub 2019 Jan 22. No abstract available.

PMID:
30682461
11.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP.

J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.

12.

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

Mahlaoui N, Picard C, Bach P, Costes L, Courteille V, Ranohavimparany A, Alcaïs A, Jais JP, Fischer A; CEREDIH French PID study group.

J Allergy Clin Immunol. 2019 Apr;143(4):1646-1649.e10. doi: 10.1016/j.jaci.2018.12.994. Epub 2019 Jan 9. No abstract available.

PMID:
30639347
13.

Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.

Hadjadj J, Guffroy A, Delavaud C, Taieb G, Meyts I, Fresard A, Streichenberger N, L'Honneur AS, Rozenberg F, D'Aveni M, Aguilar C, Rosain J, Picard C, Mahlaoui N, Lecuit M, Hermine O, Lortholary O, Suarez F.

J Clin Immunol. 2019 Jan;39(1):55-64. doi: 10.1007/s10875-018-0578-8. Epub 2018 Dec 14.

PMID:
30552536
14.

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

Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, Ehl S, Mahlaoui N, Van Wilder P, Bogaerts K, de Vries E; Plasma Protein Therapeutics Association (PPTA) Taskforce.

Orphanet J Rare Dis. 2018 Nov 12;13(1):201. doi: 10.1186/s13023-018-0941-0.

15.

Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency.

Sokol H, Mahlaoui N, Aguilar C, Bach P, Join-Lambert O, Garraffo A, Seksik P, Danion F, Jegou S, Straube M, Lenoir C, Neven B, Moshous D, Blanche S, Pigneur B, Goulet O, Ruemmele F, Suarez F, Beaugerie L, Pannier S, Mazingue F, Lortholary O, Galicier L, Picard C, de Saint Basile G, Latour S, Fischer A.

J Allergy Clin Immunol. 2019 Feb;143(2):775-778.e6. doi: 10.1016/j.jaci.2018.09.021. Epub 2018 Oct 10. No abstract available.

PMID:
30312711
16.

Interest of immunodeficiency screening in adult after admission in medical intensive care unit for severe infection, a retrospective and a prospective study: the Intensive Care Unit and Primary and Secondary Immunodeficiency (ICUSPID) study.

Baldolli A, Martin Silva N, Seguin A, Maigne G, Sultan A, Deshayes S, Du Cheyron D, Joret A, Mahlaoui N, Bienvenu B.

Infection. 2019 Feb;47(1):87-93. doi: 10.1007/s15010-018-1215-4. Epub 2018 Sep 7.

PMID:
30194635
17.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

18.

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Berland A, Rosain J, Kaltenbach S, Allain V, Mahlaoui N, Melki I, Fievet A, Dubois d'Enghien C, Ouachée-Chardin M, Perrin L, Auger N, Cipe FE, Finocchi A, Dogu F, Suarez F, Moshous D, Leblanc T, Belot A, Fieschi C, Boutboul D, Malphettes M, Galicier L, Oksenhendler E, Blanche S, Fischer A, Revy P, Stoppa-Lyonnet D, Picard C, de Villartay JP.

J Allergy Clin Immunol. 2019 Jan;143(1):325-334.e2. doi: 10.1016/j.jaci.2018.05.028. Epub 2018 Jun 12.

PMID:
29906526
19.

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

Garcelon N, Neuraz A, Salomon R, Bahi-Buisson N, Amiel J, Picard C, Mahlaoui N, Benoit V, Burgun A, Rance B.

Orphanet J Rare Dis. 2018 May 31;13(1):85. doi: 10.1186/s13023-018-0830-6.

20.

Correction: Excess mortality and hospitalizations in transitional-age youths with a long-term disease: A national population-based cohort study.

Rachas A, Tuppin P, Meyer L, Falissard B, Faye A, Mahlaoui N, Rochebrochard E, Frank M, Durieux P, Warszawski J.

PLoS One. 2018 Apr 10;13(4):e0195926. doi: 10.1371/journal.pone.0195926. eCollection 2018.

21.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

22.

Excess mortality and hospitalizations in transitional-age youths with a long-term disease: A national population-based cohort study.

Rachas A, Tuppin P, Meyer L, Falissard B, Faye A, Mahlaoui N, de La Rochebrochard E, Frank M, Durieux P, Warszawski J.

PLoS One. 2018 Mar 13;13(3):e0193729. doi: 10.1371/journal.pone.0193729. eCollection 2018. Erratum in: PLoS One. 2018 Apr 10;13(4):e0195926.

23.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Besnard C, Levy E, Aladjidi N, Stolzenberg MC, Magerus-Chatinet A, Alibeu O, Nitschke P, Blanche S, Hermine O, Jeziorski E, Landman-Parker J, Leverger G, Mahlaoui N, Michel G, Pellier I, Suarez F, Thuret I, de Saint-Basile G, Picard C, Fischer A, Neven B, Rieux-Laucat F, Quartier P; Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE).

Clin Immunol. 2018 Mar;188:52-57. doi: 10.1016/j.clim.2017.12.009. Epub 2018 Jan 10.

PMID:
29330115
24.

Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency.

Barlogis V, Mahlaoui N, Auquier P, Fouyssac F, Pellier I, Vercasson C, Allouche M, De Azevedo CB, Moshous D, Neven B, Pasquet M, Jeziorski E, Aladjidi N, Thomas C, Gandemer V, Mazingue F, Picard C, Blanche S, Michel G, Fischer A.

J Pediatr. 2018 Mar;194:211-217.e5. doi: 10.1016/j.jpeds.2017.10.029. Epub 2017 Dec 6.

PMID:
29198545
25.

Prevalence of primary immunodeficiencies in France is underestimated.

Mahlaoui N, Jais JP, Brosselin P, Mignot C, Beaurain B, Brito C, Costes L, Courteille V, De Vergnes N, Alcaïs A, Fischer A; CEREDIH Prevalence Study Collaborators.

J Allergy Clin Immunol. 2017 Dec;140(6):1731-1733. doi: 10.1016/j.jaci.2017.06.020. Epub 2017 Jul 18. No abstract available.

PMID:
28732644
26.

Les enjeux de la transition de la pédiatrie vers la médecine d’adultes.

Mahlaoui N, Langellier-Bellevue B.

Soins Pediatr Pueric. 2017 Jul - Aug;38(297):12-15. doi: 10.1016/j.spp.2017.05.002. French.

PMID:
28705560
27.

Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood.

Mahlaoui N, Warnatz K, Jones A, Workman S, Cant A.

J Clin Immunol. 2017 Jul;37(5):452-460. doi: 10.1007/s10875-017-0401-y. Epub 2017 May 18. Review.

28.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium.

J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7.

29.

Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France.

Dunogué B, Pilmis B, Mahlaoui N, Elie C, Coignard-Biehler H, Amazzough K, Noël N, Salvator H, Catherinot E, Couderc LJ, Sokol H, Lanternier F, Fouyssac F, Bardet J, Bustamante J, Gougerot-Pocidalo MA, Barlogis V, Masseau A, Durieu I, Lecuit M, Suarez F, Fischer A, Blanche S, Hermine O, Lortholary O.

Clin Infect Dis. 2017 Mar 15;64(6):767-775. doi: 10.1093/cid/ciw837.

PMID:
28362954
30.

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies.

Fischer A, Provot J, Jais JP, Alcais A, Mahlaoui N; members of the CEREDIH French PID study group.

J Allergy Clin Immunol. 2017 Nov;140(5):1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978. Epub 2017 Feb 10.

PMID:
28192146
31.

Corrigendum: Evidence of innate lymphoid cell redundancy in humans.

Vély F, Barlogis V, Vallentin B, Neven B, Piperoglou C, Perchet T, Petit M, Yessaad N, Touzot F, Bruneau J, Mahlaoui N, Zucchini N, Farnarier C, Michel G, Moshous D, Blanche S, Dujardin A, Spits H, Distler JH, Ramming A, Picard C, Golub R, Fischer A, Vivier E.

Nat Immunol. 2016 Nov 16;17(12):1479. doi: 10.1038/ni1216-1479b. No abstract available.

PMID:
27849206
32.

Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies.

Neven B, Pérot P, Bruneau J, Pasquet M, Ramirez M, Diana JS, Luzi S, Corre-Catelin N, Chardot C, Moshous D, Leclerc Mercier S, Mahlaoui N, Aladjidi N, Le Bail B, Lecuit M, Bodemer C, Molina TJ, Blanche S, Eloit M.

Clin Infect Dis. 2017 Jan 1;64(1):83-86. Epub 2016 Oct 6. Erratum in: Clin Infect Dis. 2017 May 1;64(9):1297.

PMID:
27810866
33.

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

Leclerc-Mercier S, Lemoine R, Bigorgne AE, Sepulveda F, Leveau C, Fischer A, Mahlaoui N, Hadj-Rabia S, de Saint Basile G.

Br J Dermatol. 2016 Nov;175(5):1061-1064. doi: 10.1111/bjd.14644. Epub 2016 Aug 31. No abstract available.

PMID:
27059536
34.

Evidence of innate lymphoid cell redundancy in humans.

Vély F, Barlogis V, Vallentin B, Neven B, Piperoglou C, Ebbo M, Perchet T, Petit M, Yessaad N, Touzot F, Bruneau J, Mahlaoui N, Zucchini N, Farnarier C, Michel G, Moshous D, Blanche S, Dujardin A, Spits H, Distler JH, Ramming A, Picard C, Golub R, Fischer A, Vivier E.

Nat Immunol. 2016 Nov;17(11):1291-1299. doi: 10.1038/ni.3553. Epub 2016 Sep 12. Erratum in: Nat Immunol. 2016 Nov 16;17 (12 ):1479.

35.

Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study.

Barlogis V, Mahlaoui N, Auquier P, Pellier I, Fouyssac F, Vercasson C, Allouche M, De Azevedo CB, Suarez F, Moshous D, Neven B, Pasquet M, Jeziorski E, Aladjidi N, Schleinitz N, Thomas C, Gandemer V, Mazingue F, Lutz P, Hermine O, Picard C, Blanche S, Michel G, Fischer A.

J Allergy Clin Immunol. 2017 Apr;139(4):1275-1281.e7. doi: 10.1016/j.jaci.2016.08.027. Epub 2016 Sep 30.

PMID:
27697497
36.

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I.

J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4.

PMID:
27405666
37.

Evaluating Continuity During Transfer to Adult Care: A Systematic Review.

Rachas A, Lefeuvre D, Meyer L, Faye A, Mahlaoui N, de La Rochebrochard E, Warszawski J, Durieux P.

Pediatrics. 2016 Jul;138(1). pii: e20160256. doi: 10.1542/peds.2016-0256. Review.

38.

Managing Inflammatory Manifestations in Patients with Chronic Granulomatous Disease.

Magnani A, Mahlaoui N.

Paediatr Drugs. 2016 Oct;18(5):335-45. doi: 10.1007/s40272-016-0182-4.

PMID:
27299584
39.

Treatment of acute leukemia in children with ataxia telangiectasia (A-T).

Schoenaker MH, Suarez F, Szczepanski T, Mahlaoui N, Loeffen JL.

Eur J Med Genet. 2016 Dec;59(12):641-646. doi: 10.1016/j.ejmg.2016.05.012. Epub 2016 May 27.

PMID:
27238889
40.

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Conti F, Lugo-Reyes SO, Blancas Galicia L, He J, Aksu G, Borges de Oliveira E Jr, Deswarte C, Hubeau M, Karaca N, de Suremain M, Guérin A, Baba LA, Prando C, Guerrero GG, Emiroglu M, Öz FN, Yamazaki Nakashimada MA, Gonzalez Serrano E, Espinosa S, Barlan I, Pérez N, Regairaz L, Guidos Morales HE, Bezrodnik L, Di Giovanni D, Dbaibo G, Ailal F, Galicchio M, Oleastro M, Chemli J, Danielian S, Perez L, Ortega MC, Soto Lavin S, Hertecant J, Anal O, Kechout N, Al-Idrissi E, ElGhazali G, Bondarenko A, Chernyshova L, Ciznar P, Herbigneaux RM, Diabate A, Ndaga S, Konte B, Czarna A, Migaud M, Pedraza-Sánchez S, Zaidi MB, Vogt G, Blanche S, Benmustapha I, Mansouri D, Abel L, Boisson-Dupuis S, Mahlaoui N, Bousfiha AA, Picard C, Barbouche R, Al-Muhsen S, Espinosa-Rosales FJ, Kütükçüler N, Condino-Neto A, Casanova JL, Bustamante J.

J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3. doi: 10.1016/j.jaci.2015.11.041. Epub 2016 Feb 28.

PMID:
26936803
41.

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Sterlin D, Velasco G, Moshous D, Touzot F, Mahlaoui N, Fischer A, Suarez F, Francastel C, Picard C.

J Clin Immunol. 2016 Feb;36(2):149-59. doi: 10.1007/s10875-016-0240-2. Epub 2016 Feb 6.

PMID:
26851945
42.

Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis.

Frémond ML, Pérot P, Muth E, Cros G, Dumarest M, Mahlaoui N, Seilhean D, Desguerre I, Hébert C, Corre-Catelin N, Neven B, Lecuit M, Blanche S, Picard C, Eloit M.

J Pediatric Infect Dis Soc. 2015 Sep;4(3):e53-7. doi: 10.1093/jpids/piv040. Epub 2015 Jul 12.

PMID:
26407445
43.

Early-onset hypogammaglobulinemia: A survey of 44 patients.

Brignier AC, Mahlaoui N, Reimann C, Picard C, Kracker S, de Vergnes N, Rieux-Laucat F, Frange P, Suarez F, Neven B, Masseau A, Aladjidi N, Donadieu J, Corby A, Bienvenu B, Cony-Makhoul P, Fischer A, Cavazzana M, Durandy A.

J Allergy Clin Immunol. 2015 Oct;136(4):1097-9.e2. doi: 10.1016/j.jaci.2015.03.038. Epub 2015 May 8. No abstract available.

PMID:
25959671
44.

[Neonatal screening of severe combined immunodeficiencies].

Thomas C, Mirallié S, Pierres C, Dert C, Clément MC, Mahlaoui N, Durand-Zaleski I, Fischer A, Audrain M; DEPISTREC Group.

Arch Pediatr. 2015 Jun;22(6):646-52. doi: 10.1016/j.arcped.2015.03.001. Epub 2015 Apr 18. French.

PMID:
25896629
45.

Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.

Clément MC, Mahlaoui N, Mignot C, Le Bihan C, Rabetrano H, Hoang L, Neven B, Moshous D, Cavazzana M, Blanche S, Fischer A, Audrain M, Durand-Zaleski I.

J Allergy Clin Immunol. 2015 Jun;135(6):1589-93. doi: 10.1016/j.jaci.2015.02.004. Epub 2015 Apr 1.

PMID:
25840725
46.

Pulmonary manifestations in adult patients with chronic granulomatous disease.

Salvator H, Mahlaoui N, Catherinot E, Rivaud E, Pilmis B, Borie R, Crestani B, Tcherakian C, Suarez F, Dunogue B, Gougerot-Pocidalo MA, Hurtado-Nedelec M, Dreyfus JF, Durieu I, Fouyssac F, Hermine O, Lortholary O, Fischer A, Couderc LJ.

Eur Respir J. 2015 Jun;45(6):1613-23. doi: 10.1183/09031936.00118414. Epub 2015 Jan 22.

47.

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.

Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz Ö, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Güngör T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiency.

J Allergy Clin Immunol. 2015 Apr;135(4):988-97.e6. doi: 10.1016/j.jaci.2014.11.029. Epub 2015 Jan 14.

PMID:
25595268
48.

Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies.

Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d'Enghien C, Brousse N, Jais JP, Fischer A, Hermine O, Stoppa-Lyonnet D.

J Clin Oncol. 2015 Jan 10;33(2):202-8. doi: 10.1200/JCO.2014.56.5101. Epub 2014 Dec 8.

PMID:
25488969
49.

LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.

Sepulveda FE, Burgess A, Heiligenstein X, Goudin N, Ménager MM, Romao M, Côte M, Mahlaoui N, Fischer A, Raposo G, Ménasché G, de Saint Basile G.

Traffic. 2015 Feb;16(2):191-203. doi: 10.1111/tra.12244. Epub 2015 Jan 6.

50.

Prevention of infections during primary immunodeficiency.

Aguilar C, Malphettes M, Donadieu J, Chandesris O, Coignard-Biehler H, Catherinot E, Pellier I, Stephan JL, Le Moing V, Barlogis V, Suarez F, Gérart S, Lanternier F, Jaccard A, Consigny PH, Moulin F, Launay O, Lecuit M, Hermine O, Oksenhendler E, Picard C, Blanche S, Fischer A, Mahlaoui N, Lortholary O.

Clin Infect Dis. 2014 Nov 15;59(10):1462-70. doi: 10.1093/cid/ciu646. Epub 2014 Aug 14. Review.

PMID:
25124061

Supplemental Content

Loading ...
Support Center