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Items: 1 to 50 of 105

1.

Allogeneic stem-cell transplantation with sequential conditioning in adult patients with refractory or relapsed acute lymphoblastic leukemia: a report from the EBMT Acute Leukemia Working Party.

Bazarbachi AH, Al Hamed R, Labopin M, Afanasyev B, Hamladji RM, Beelen D, Eder M, Scheid C, Wu D, Bunjes D, Stepensky P, Tischer J, Kröger N, Peric Z, Aljurf M, Giebel S, Nagler A, Mohty M.

Bone Marrow Transplant. 2019 Sep 27. doi: 10.1038/s41409-019-0702-2. [Epub ahead of print]

PMID:
31562398
2.

Successful treatment with daratumumab for post-HSCT refractory hemolytic anemia.

Even-Or E, Naser Eddin A, Shadur B, Dinur Schejter Y, Najajreh M, Zelig O, Zaidman I, Stepensky P.

Pediatr Blood Cancer. 2019 Sep 22:e28010. doi: 10.1002/pbc.28010. [Epub ahead of print]

PMID:
31544339
3.

Gram-negative Bacteremia in Children With Hematological Malignancies and Following Hematopoietic Stem Cell Transplantation: Epidemiology, Resistance, and Outcome.

Vinker-Shuster M, Stepensky P, Temper V, Shayovitz V, Masarwa R, Averbuch D.

J Pediatr Hematol Oncol. 2019 Jul 16. doi: 10.1097/MPH.0000000000001556. [Epub ahead of print]

PMID:
31318820
4.

Primary Cutaneous Clonal CD8+ T-Cell Lymphoproliferative Disorder Associated With Immunodeficiency due to RAG1 Mutation.

Avitan-Hersh E, Stepensky P, Zaidman I, Nevet MJ, Hanna S, Bergman R.

Am J Dermatopathol. 2019 Jul 12. doi: 10.1097/DAD.0000000000001492. [Epub ahead of print]

PMID:
31313695
5.

Lymphocyte counts may predict a good response to mesenchymal stromal cells therapy in graft versus host disease patients.

Hinden L, Avner M, Stepensky P, Or R, Almogi-Hazan O.

PLoS One. 2019 Jun 12;14(6):e0217572. doi: 10.1371/journal.pone.0217572. eCollection 2019.

6.

Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.

Stepensky P, Grisariu S, Avni B, Zaidman I, Shadur B, Elpeleg O, Sirin M, Hoenig M, Schuetz C, Furlan I, Beer M, von Harsdorf S, Bunjes D, Debatin KM, Schulz AS.

Blood Adv. 2019 Mar 26;3(6):862-868. doi: 10.1182/bloodadvances.2018025890.

7.

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12.

8.

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death.

Damgaard RB, Elliott PR, Swatek KN, Maher ER, Stepensky P, Elpeleg O, Komander D, Berkun Y.

EMBO Mol Med. 2019 Mar;11(3). pii: e9324. doi: 10.15252/emmm.201809324.

9.

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.

Tometten I, Felgentreff K, Hönig M, Hauck F, Albert MH, Niehues T, Perez R, Ghosh S, Picard C, Stary J, Formankova R, Worth A, Soler-Palacín P, García-Prat M, Allende LM, Gonzalez-Granado LI, Stepensky P, Di Cesare S, Scarselli A, Cancrini C, Speckmann C, Gilmour K, Notarangelo L, Ehl S, Rohr JC.

Clin Immunol. 2019 Apr;201:30-34. doi: 10.1016/j.clim.2018.11.006. Epub 2019 Feb 15.

PMID:
30776520
10.

Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations.

Shadur B, Abuzaitoun O, NaserEddin A, Even-Or E, Zaidman I, Stepensky P.

Clin Immunol. 2019 Jan;198:39-45. doi: 10.1016/j.clim.2018.12.016. Epub 2018 Dec 17.

PMID:
30572125
11.

Leucocyte adhesion deficiency-A multicentre national experience.

Wolach B, Gavrieli R, Wolach O, Stauber T, Abuzaitoun O, Kuperman A, Amir Y, Stepensky P, Somech R, Etzioni A.

Eur J Clin Invest. 2019 Feb;49(2):e13047. doi: 10.1111/eci.13047. Epub 2019 Jan 4.

PMID:
30412664
12.

EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.

Schipp C, Schlütermann D, Hönscheid A, Nabhani S, Höll J, Oommen PT, Ginzel S, Fleckenstein B, Stork B, Borkhardt A, Stepensky P, Fischer U.

Front Immunol. 2018 Oct 16;9:2400. doi: 10.3389/fimmu.2018.02400. eCollection 2018.

13.

How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.

Shadur B, Asherie N, Newburger PE, Stepensky P.

Pediatr Blood Cancer. 2019 Jan;66(1):e27473. doi: 10.1002/pbc.27473. Epub 2018 Oct 7. Erratum in: Pediatr Blood Cancer. 2019 Apr;66(4):e27580.

PMID:
30294941
14.

Fludarabine-based reduced toxicity yet myeloablative conditioning is effective and safe particularly in patients with high-risk thalassemia undergoing allogeneic transplantation.

Sheth V, Grisariu S, Avni B, Stepensky P, Ashkenazi M, Shapira MY, Or R.

Pediatr Blood Cancer. 2018 Nov;65(11):e27312. doi: 10.1002/pbc.27312. Epub 2018 Aug 1.

PMID:
30070020
15.

Thiotepa, busulfan and fludarabine compared to busulfan and cyclophosphamide as conditioning regimen for allogeneic stem cell transplant from matched siblings and unrelated donors for acute myeloid leukemia.

Saraceni F, Beohou E, Labopin M, Arcese W, Bonifazi F, Stepensky P, Aljurf M, Bruno B, Pioltelli P, Passweg J, Sociè G, Santarone S, Yakoub-Agha I, Lanza F, Savani BN, Mohty M, Nagler A; Acute Leukemia Working Party (ALWP) of the European Society for Blood and Marrow Transplantation (EBMT).

Am J Hematol. 2018 Oct;93(10):1211-1219. doi: 10.1002/ajh.25225. Epub 2018 Aug 15.

16.

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K.

J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9.

PMID:
29948574
17.

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Shamriz O, Shadur B, NaserEddin A, Zaidman I, Simanovsky N, Elpeleg O, Kerem E, Reiter J, Stepensky P.

Eur J Pediatr. 2018 Aug;177(8):1163-1172. doi: 10.1007/s00431-018-3171-5. Epub 2018 May 18.

PMID:
29777306
18.

[EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].

Ta-Shma A, Edvardson S, Elpeleg O, Stepensky P.

Harefuah. 2018 Mar;157(3):188-191. Review. Hebrew.

PMID:
29582952
19.

Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning.

Shadur B, Zaidman I, NaserEddin A, Lokshin E, Hussein F, Oron HC, Avni B, Grisariu S, Stepensky P.

Pediatr Blood Cancer. 2018 Jun;65(6):e27010. doi: 10.1002/pbc.27010. Epub 2018 Feb 22.

PMID:
29469225
20.

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.

Rechavi E, Lev A, Simon AJ, Stauber T, Daas S, Saraf-Levy T, Broides A, Nahum A, Marcus N, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Almashanu S, Somech R.

Front Immunol. 2017 Nov 6;8:1448. doi: 10.3389/fimmu.2017.01448. eCollection 2017.

21.

Cutaneous Chronic Graft Versus Host Disease Following Allogeneic Haematopoietic Stem Cell Transplantation in Children: A Retrospective Study.

Shreberk-Hassidim R, Neumark M, Greenberger S, Goldstein G, Hassidim A, Dukler Y, Maly A, Stepensky P, Molho-Pessach V.

Acta Derm Venereol. 2018 Feb 7;98(2):206-211. doi: 10.2340/00015555-2824.

22.

T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.

Radomir L, Cohen S, Kramer MP, Bakos E, Lewinsky H, Barak A, Porat Z, Bucala R, Stepensky P, Becker-Herman S, Shachar I.

J Immunol. 2017 Oct 15;199(8):2745-2757. doi: 10.4049/jimmunol.1700557. Epub 2017 Sep 13.

23.

Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency.

Marquardsen FA, Baldin F, Wunderer F, Al-Herz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, Stepensky P, Meyer B, Jauch A, Bigler MB, Burgener AV, Higgins R, Navarini AA, Church JA, Chou J, Geha R, Notarangelo LD, Hess C, Berger CT, Bloch DB, Recher M.

J Clin Immunol. 2017 Oct;37(7):707-714. doi: 10.1007/s10875-017-0431-5. Epub 2017 Aug 21.

24.

STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds.

Nabhani S, Schipp C, Miskin H, Levin C, Postovsky S, Dujovny T, Koren A, Harlev D, Bis AM, Auer F, Keller B, Warnatz K, Gombert M, Ginzel S, Borkhardt A, Stepensky P, Fischer U.

Clin Immunol. 2017 Aug;181:32-42. doi: 10.1016/j.clim.2017.05.021. Epub 2017 Jun 1.

PMID:
28579554
25.

Correction: Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.

Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P.

J Exp Med. 2017 Jul 3;214(7):2165. doi: 10.1084/jem.2015111005242017c. Epub 2017 Jun 1. No abstract available.

26.

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.

Seidel MG, Böhm K, Dogu F, Worth A, Thrasher A, Florkin B, İkincioğulları A, Peters A, Bakhtiar S, Meeths M, Stepensky P, Meyts I, Sharapova SO, Gámez-Díaz L, Hammarström L, Ehl S, Grimbacher B, Gennery AR; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation.

J Allergy Clin Immunol. 2018 Feb;141(2):770-775.e1. doi: 10.1016/j.jaci.2017.04.023. Epub 2017 May 10. No abstract available.

PMID:
28502825
27.

Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome.

Shamriz O, Molho-Pessach V, Shaag A, Daum H, Stepensky P.

Isr Med Assoc J. 2016 Oct;18(10):636-638. No abstract available.

28.

Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis.

Breuer O, Daum H, Cohen-Cymberknoh M, Unger S, Shoseyov D, Stepensky P, Keller B, Warnatz K, Kerem E.

Respir Med. 2017 May;126:39-45. doi: 10.1016/j.rmed.2017.03.018. Epub 2017 Mar 22.

29.

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.

Stepensky P, Chacón-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Méndez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sánchez-Puig N, Elpeleg O.

J Med Genet. 2017 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22.

PMID:
28331068
30.

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party.

Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22.

31.

IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2.

Jandl C, Liu SM, Cañete PF, Warren J, Hughes WE, Vogelzang A, Webster K, Craig ME, Uzel G, Dent A, Stepensky P, Keller B, Warnatz K, Sprent J, King C.

Nat Commun. 2017 Mar 17;8:14647. doi: 10.1038/ncomms14647.

32.

Non-fermentative Gram-negative rods bacteremia in children with cancer: a 14-year single-center experience.

Averbuch D, Avaky C, Harit M, Stepensky P, Fried I, Ben-Ami T, Temper V, Peled Y, Troen H, Masarwa R, Abu Ahmad W, Weintraub M, Revel-Vilk S, Engelhard D.

Infection. 2017 Jun;45(3):327-334. doi: 10.1007/s15010-017-0988-1. Epub 2017 Feb 15.

PMID:
28205160
33.

miR-103 inhibits proliferation and sensitizes hemopoietic tumor cells for glucocorticoid-induced apoptosis.

Kfir-Erenfeld S, Haggiag N, Biton M, Stepensky P, Assayag-Asherie N, Yefenof E.

Oncotarget. 2017 Jan 3;8(1):472-489. doi: 10.18632/oncotarget.13447.

34.

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, González-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S; P-CID study of the Inborn Errors Working Party of the EBMT.

J Allergy Clin Immunol. 2017 Apr;139(4):1302-1310.e4. doi: 10.1016/j.jaci.2016.07.040. Epub 2016 Sep 19.

35.

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P.

J Pediatr. 2016 Oct;177:316-320. doi: 10.1016/j.jpeds.2016.06.058. Epub 2016 Aug 8.

PMID:
27514238
36.

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG.

J Exp Med. 2016 Jul 25;213(8):1589-608. doi: 10.1084/jem.20151467. Epub 2016 Jul 11.

37.

Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.

Schipp C, Nabhani S, Bienemann K, Simanovsky N, Kfir-Erenfeld S, Assayag-Asherie N, Oommen PT, Revel-Vilk S, Hönscheid A, Gombert M, Ginzel S, Schäfer D, Laws HJ, Yefenof E, Fleckenstein B, Borkhardt A, Stepensky P, Fischer U.

Haematologica. 2016 Oct;101(10):e392-e396. Epub 2016 Jun 30. No abstract available.

38.

Active acute leukaemia: should transplant be offered to all patients?

Avni B, Shapira MY, Resnick IB, Stepensky P, Or R, Grisariu S.

Hematol Oncol. 2017 Dec;35(4):797-803. doi: 10.1002/hon.2308. Epub 2016 Jun 24.

PMID:
27338621
39.

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.

Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P.

J Exp Med. 2016 Jun 27;213(7):1185-99. doi: 10.1084/jem.20151110. Epub 2016 May 30. Erratum in: J Exp Med. 2017 Jun 1;:.

40.

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Shamriz O, Shaag A, Yaacov B, NaserEddin A, Weintraub M, Elpeleg O, Stepensky P.

Clin Genet. 2017 Jul;92(1):80-85. doi: 10.1111/cge.12804. Epub 2016 Jun 2.

PMID:
27187610
41.

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A.

Blood. 2016 Jul 7;128(1):45-54. doi: 10.1182/blood-2016-01-688226. Epub 2016 Apr 29. Erratum in: Blood. 2017 Jun 15;129(24):3271.

42.

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds.

Simanovsky N, Rozovsky K, Hiller N, Weintraub M, Stepensky P.

Pediatr Blood Cancer. 2016 Jul;63(7):1222-6. doi: 10.1002/pbc.25952. Epub 2016 Mar 10.

PMID:
26970326
43.

Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.

Stepensky P, Keller B, Shamriz O, NaserEddin A, Rumman N, Weintraub M, Warnatz K, Elpeleg O, Barak Y.

Clin Immunol. 2016 Feb;163:91-5. doi: 10.1016/j.clim.2016.01.001. Epub 2016 Jan 6.

PMID:
26769277
44.

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B.

J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025.

PMID:
26768763
45.

Infants under two months of age with urinary tract infections are showing increasing resistance to empirical and oral antibiotics.

Segal Z, Cohen MJ, Engelhard D, Tenenbaum A, Simckes AM, Benenson S, Stepensky P, Averbuch D.

Acta Paediatr. 2016 Apr;105(4):e156-60. doi: 10.1111/apa.13322. Epub 2016 Jan 21.

PMID:
26709717
46.

Cytokine secretion and NK cell activity in human ADAM17 deficiency.

Tsukerman P, Eisenstein EM, Chavkin M, Schmiedel D, Wong E, Werner M, Yaacov B, Averbuch D, Molho-Pessach V, Stepensky P, Kaynan N, Bar-On Y, Seidel E, Yamin R, Sagi I, Elpeleg O, Mandelboim O.

Oncotarget. 2015 Dec 29;6(42):44151-60. doi: 10.18632/oncotarget.6629.

47.

De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

Kuhlen M, Hönscheid A, Loizou L, Nabhani S, Fischer U, Stepensky P, Schaper J, Klapper W, Siepermann M, Schuster F, Meisel R, Borkhardt A.

Clin Immunol. 2016 Jan;162:27-30. doi: 10.1016/j.clim.2015.10.008. Epub 2015 Oct 31.

PMID:
26529633
48.

Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning.

Natsheh J, Drozdinsky G, Simanovsky N, Lamdan R, Erlich O, Gorelik N, Or R, Weintraub M, Stepensky P.

Pediatr Blood Cancer. 2016 Mar;63(3):535-40. doi: 10.1002/pbc.25801. Epub 2015 Oct 20.

PMID:
26485304
49.

Bosentan-induced Reduction in Cyclosporine-A Levels: A Rare Interaction in an Infant With Osteopetrosis and Severe Pulmonary Hyperetension.

Masarwa R, Shamriz O, Zilkha A, Braun J, Kleid DM, Weintraub M, Schulz A, Stepensky P.

J Pediatr Hematol Oncol. 2015 Oct;37(7):573-4. doi: 10.1097/MPH.0000000000000409. No abstract available.

PMID:
26274036
50.

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.

Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, İkincioğullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2015 Oct;136(4):993-1006.e1. doi: 10.1016/j.jaci.2015.05.036. Epub 2015 Jul 7.

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