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Items: 1 to 50 of 235

1.

Time-dependent decline of T-cell receptor excision circle levels in ZAP-70 deficiency.

Suresh S, Dadi H, Reid B, Vong L, Bulman DE, Roifman CM.

J Allergy Clin Immunol Pract. 2019 Aug 23. pii: S2213-2198(19)30725-1. doi: 10.1016/j.jaip.2019.08.018. [Epub ahead of print] No abstract available.

PMID:
31449923
2.

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V.

RNA. 2019 Sep;25(9):1130-1149. doi: 10.1261/rna.071423.119. Epub 2019 Jun 7.

3.

NF-κB pathway and the Goldilocks principle: Lessons from human disorders of immunity and inflammation.

Scott O, Roifman CM.

J Allergy Clin Immunol. 2019 May;143(5):1688-1701. doi: 10.1016/j.jaci.2019.03.016. Epub 2019 Mar 30. Erratum in: J Allergy Clin Immunol. 2019 Aug;144(2):626.

PMID:
30940520
4.

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.

Ovadia A, Sharfe N, Hawkins C, Laughlin S, Roifman CM.

NPJ Genom Med. 2018 Aug 20;3:23. doi: 10.1038/s41525-018-0063-6. eCollection 2018.

5.

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.

Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM.

NPJ Genom Med. 2017 Jul 10;2:23. doi: 10.1038/s41525-017-0024-5. eCollection 2017.

6.

Newborn screening for severe combined immunodeficiency: a primer for clinicians.

Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE.

CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561. Review. No abstract available.

7.

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM.

J Allergy Clin Immunol. 2018 Aug;142(2):618-629. doi: 10.1016/j.jaci.2017.10.033. Epub 2017 Nov 26.

PMID:
29180244
8.

Long-term immune reconstitution after matched unrelated hematopoietic stem cell transplantation for immunodeficiency.

Kim VH, Reid B, Atkinson A, Upton J, Grunebaum E, Roifman CM.

J Allergy Clin Immunol. 2018 Mar;141(3):1154-1157.e3. doi: 10.1016/j.jaci.2017.10.015. Epub 2017 Nov 8. No abstract available.

PMID:
29128672
9.

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).

Dadi H, Jones TA, Merico D, Sharfe N, Ovadia A, Schejter Y, Reid B, Sun M, Vong L, Atkinson A, Lavi S, Pomerantz JL, Roifman CM.

J Allergy Clin Immunol. 2018 May;141(5):1818-1830.e2. doi: 10.1016/j.jaci.2017.06.047. Epub 2017 Aug 19.

PMID:
28826773
10.

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

Chinn IK, Sanders RP, Stray-Pedersen A, Coban-Akdemir ZH, Kim VH, Dadi H, Roifman CM, Quigg T, Lupski JR, Orange JS, Hanson IC.

Front Immunol. 2017 May 26;8:576. doi: 10.3389/fimmu.2017.00576. eCollection 2017.

11.

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium.

J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7.

PMID:
28601685
12.

Hematopoietic stem cell transplantation for RelB deficiency.

Ovadia A, Dinur Schejter Y, Grunebaum E, Kim VH, Reid B, Schechter T, Pope E, Roifman CM.

J Allergy Clin Immunol. 2017 Oct;140(4):1199-1201.e3. doi: 10.1016/j.jaci.2017.05.007. Epub 2017 May 26. No abstract available.

PMID:
28552761
13.

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.

Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM.

Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816.

14.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2016 Nov 1;126(11):4389. doi: 10.1172/JCI91162. Epub 2016 Nov 1. No abstract available.

15.

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.

de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM.

J Allergy Clin Immunol. 2017 Apr;139(4):1282-1292. doi: 10.1016/j.jaci.2016.07.039. Epub 2016 Sep 30.

16.

Primary Effusion Lymphoma (PEL)-Like Lymphoma in a Child With Congenital Immunodeficiency.

Lam GK, Abdelhaleem M, Somers GR, Roifman C, Read S, Abla O.

Pediatr Blood Cancer. 2016 Sep;63(9):1674-6. doi: 10.1002/pbc.26069. Epub 2016 May 17.

PMID:
27186682
17.

Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency.

Grunebaum E, Kim VH, Somers GR, Shammas A, Roifman CM.

J Allergy Clin Immunol. 2016 Aug;138(2):612-615.e1. doi: 10.1016/j.jaci.2016.02.009. Epub 2016 Apr 6. No abstract available.

PMID:
27061251
18.

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao Y, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie R, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters TD, Shouval DS, Curran M, Dobrin R, Brodmerkel C, Snapper SB, Klein C, Brumell JH, Hu M, Nanan R, Snanter-Nanan B, Wong M, Le Deist F, Haddad E, Roifman CM, Deslandres C, Griffiths AM, Gaskin KJ, Uhlig HH, Schadt EE, Muise AM.

Gastroenterology. 2016 May;150(5):1196-1207. doi: 10.1053/j.gastro.2016.01.031. Epub 2016 Feb 4.

19.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW.

Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718.

20.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12. Erratum in: J Clin Invest. 2016 Nov 1;126(11):4389.

21.

The effects of RelB deficiency on lymphocyte development and function.

Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM.

J Autoimmun. 2015 Dec;65:90-100. doi: 10.1016/j.jaut.2015.09.001. Epub 2015 Sep 15.

PMID:
26385063
22.

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM.

Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7.

23.

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.

24.

Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery.

Modell V, Knaus M, Modell F, Roifman C, Orange J, Notarangelo LD.

Immunol Res. 2014 Oct;60(1):132-44. doi: 10.1007/s12026-014-8498-z.

PMID:
24668296
25.

Pulmonary alveolar proteinosis in adenosine deaminase-deficient mice.

Dhanju R, Min W, Ackerley C, Cimpean L, Palaniyar N, Roifman CM, Grunebaum E.

J Allergy Clin Immunol. 2014 May;133(5):1467-71, 1471.e1-4. doi: 10.1016/j.jaci.2013.11.029. Epub 2014 Jan 15. No abstract available.

PMID:
24439080
26.

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.

Sharfe N, Nahum A, Newell A, Dadi H, Ngan B, Pereira SL, Herbrick JA, Roifman CM.

J Allergy Clin Immunol. 2014 Mar;133(3):807-17. doi: 10.1016/j.jaci.2013.09.032. Epub 2013 Nov 13.

PMID:
24239102
27.

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

Berglund LJ, Avery DT, Ma CS, Moens L, Deenick EK, Bustamante J, Boisson-Dupuis S, Wong M, Adelstein S, Arkwright PD, Bacchetta R, Bezrodnik L, Dadi H, Roifman CM, Fulcher DA, Ziegler JB, Smart JM, Kobayashi M, Picard C, Durandy A, Cook MC, Casanova JL, Uzel G, Tangye SG.

Blood. 2013 Dec 5;122(24):3940-50. doi: 10.1182/blood-2013-06-506865. Epub 2013 Oct 24.

28.

Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.

Grunebaum E, Cohen A, Roifman CM.

Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. Review.

PMID:
24113229
29.

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y.

J Clin Immunol. 2013 Oct;33(7):1150-5. doi: 10.1007/s10875-013-9927-9. Epub 2013 Aug 14.

PMID:
23943155
30.

Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis.

Al-Zahrani D, Al-Ghonaium A, Al-Mousa H, Al-Kassar A, Roifman CM.

J Allergy Clin Immunol. 2013 Oct;132(4):993-6. doi: 10.1016/j.jaci.2013.04.055. Epub 2013 Jun 12. No abstract available.

PMID:
23763981
31.

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside.

Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL.

J Clin Immunol. 2013 Aug;33(6):1078-87. doi: 10.1007/s10875-013-9901-6. Epub 2013 May 9.

32.

Multiple osteochondromas following irradiation-containing conditioning in severe combined immunodeficiency.

Grunebaum E, Daneman A, Murguia-Favela L, Manson D, Kim VH, Roifman CM, Grunebaum M.

Br J Haematol. 2013 May;161(3):446-8. doi: 10.1111/bjh.12248. Epub 2013 Feb 6. No abstract available.

PMID:
23384194
33.

Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression.

Muñoz-Ruiz M, Pérez-Flores V, Garcillán B, Guardo AC, Mazariegos MS, Takada H, Allende LM, Kilic SS, Sanal O, Roifman CM, López-Granados E, Recio MJ, Martínez-Naves E, Fernández-Malavé E, Regueiro JR.

BMC Immunol. 2013 Jan 21;14:3. doi: 10.1186/1471-2172-14-3.

34.

ζ Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance.

Poliani PL, Fontana E, Roifman CM, Notarangelo LD.

J Allergy Clin Immunol. 2013 Feb;131(2):597-600.e1-2. doi: 10.1016/j.jaci.2012.11.002. Epub 2012 Dec 14. No abstract available.

PMID:
23245794
35.

Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.

Manson D, Diamond L, Oudjhane K, Hussain FB, Roifman C, Grunebaum E.

Pediatr Radiol. 2013 Mar;43(5):589-92. doi: 10.1007/s00247-012-2564-2. Epub 2012 Nov 24.

PMID:
23179487
36.

Emergency treatment for ζ chain-associated protein of 70 kDa (ZAP70) deficiency.

Kim VH, Murguia L, Schechter T, Grunebaum E, Roifman CM.

J Allergy Clin Immunol. 2013 Apr;131(4):1233-5. doi: 10.1016/j.jaci.2012.09.020. Epub 2012 Nov 6. No abstract available.

PMID:
23141738
37.

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients.

Weller S, Bonnet M, Delagreverie H, Israel L, Chrabieh M, Maródi L, Rodriguez-Gallego C, Garty BZ, Roifman C, Issekutz AC, Zitnik SE, Hoarau C, Camcioglu Y, Vasconcelos J, Rodrigo C, Arkwright PD, Cerutti A, Meffre E, Zhang SY, Alcais A, Puel A, Casanova JL, Picard C, Weill JC, Reynaud CA.

Blood. 2012 Dec 13;120(25):4992-5001. doi: 10.1182/blood-2012-07-440776. Epub 2012 Sep 21.

38.

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Hönig M, Friedrich W, Gennery A, Slatter M, Bredius R, Finocchi A, Cancrini C, Aiuti A, Porta F, Lanfranchi A, Ridella M, Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency.

Blood. 2012 Oct 25;120(17):3615-24; quiz 3626. doi: 10.1182/blood-2011-12-396879. Epub 2012 Jul 12.

PMID:
22791287
39.

Effect of acute graft-versus-host disease on the outcome of second allogeneic hematopoietic stem cell transplant in children.

Schechter T, Avila L, Frangoul H, Domm J, Dupuis LL, Naithani R, Zhao X, Pollock-Barziv S, Roifman C, Gassas A, Doyle J.

Leuk Lymphoma. 2013 Jan;54(1):105-9. doi: 10.3109/10428194.2012.704998. Epub 2012 Sep 5.

PMID:
22721498
40.

Defining combined immunodeficiency.

Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E.

J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029. Epub 2012 Jun 2.

PMID:
22664165
41.

IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.

Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM.

Inflamm Bowel Dis. 2013 Jan;19(1):115-23. doi: 10.1002/ibd.22974.

42.

Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice.

Mansouri A, Min W, Cole CJ, Josselyn SA, Henderson JT, van Eede M, Henkelman RM, Ackerley C, Grunebaum E, Roifman CM.

Neurobiol Dis. 2012 Aug;47(2):201-9. doi: 10.1016/j.nbd.2012.04.001. Epub 2012 Apr 11.

PMID:
22521465
43.

Thymic mucosa-associated lymphoid tissue lymphoma in an adolescent girl.

Naithani R, Ngan BY, Roifman C, Crump M, Baruchel S, Abla O.

J Pediatr Hematol Oncol. 2012 Oct;34(7):552-5.

PMID:
22469942
44.

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.

Grunebaum E, Cutz E, Roifman CM.

J Allergy Clin Immunol. 2012 Jun;129(6):1588-93. doi: 10.1016/j.jaci.2012.02.003. Epub 2012 Mar 10.

PMID:
22409989
45.

The biological significance of TLR3 variant, L412F, in conferring susceptibility to cutaneous candidiasis, CMV and autoimmunity.

Nahum A, Dadi H, Bates A, Roifman CM.

Autoimmun Rev. 2012 Mar;11(5):341-7. doi: 10.1016/j.autrev.2011.10.007. Epub 2011 Oct 17.

PMID:
22024499
46.

Global study of primary immunodeficiency diseases (PI)--diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation.

Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, Sorensen RU, Notarangelo LD, Modell F.

Immunol Res. 2011 Oct;51(1):61-70. doi: 10.1007/s12026-011-8241-y.

PMID:
21935653
47.

Effects of purine nucleoside phosphorylase deficiency on thymocyte development.

Papinazath T, Min W, Sujiththa S, Cohen A, Ackerley C, Roifman CM, Grunebaum E.

J Allergy Clin Immunol. 2011 Oct;128(4):854-863.e1. doi: 10.1016/j.jaci.2011.07.039. Epub 2011 Aug 25.

PMID:
21868080
48.

Hematopoietic stem cell transplantation for CD3δ deficiency.

Marcus N, Takada H, Law J, Cowan MJ, Gil J, Regueiro JR, Plaza Lopez de Sabando D, Lopez-Granados E, Dalal J, Friedrich W, Manfred H, Hanson IC, Grunebaum E, Shearer WT, Roifman CM.

J Allergy Clin Immunol. 2011 Nov;128(5):1050-7. doi: 10.1016/j.jaci.2011.05.031. Epub 2011 Jul 16. Erratum in: J Allergy Clin Immunol. 2013 Nov;132(5):1259.

49.

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y.

J Med Genet. 2011 Sep;48(9):618-28. doi: 10.1136/jmg.2011.089821. Epub 2011 Jun 9. Erratum in: J Med Genet. 2012 Sep;49(9):597.

PMID:
21659346
50.

Increased resting energy expenditure is associated with failure to thrive in infants with severe combined immunodeficiency.

Barron MA, Makhija M, Hagen LE, Pencharz P, Grunebaum E, Roifman CM.

J Pediatr. 2011 Oct;159(4):628-32.e1. doi: 10.1016/j.jpeds.2011.03.041. Epub 2011 May 17.

PMID:
21592502

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