domingo, 2 de diciembre de 2018

Severe combined immunodeficiency AND (genetic OR genomic) AND review - PubMed - NCBI

Severe combined immunodeficiency AND (genetic OR genomic) AND review - PubMed - NCBI

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Best matches for Severe combined immunodeficiency AND (genetic OR genomic) AND review:

Severe combined immunodeficiency: From its discovery to the perspective.Kanegane H et al. Nihon Rinsho Meneki Gakkai Kaishi. (2017)

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Items: 1 to 20 of 617

1.
TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.
Fayard J, Collardeau S, Bertrand Y, Cordier MP, Malcus C, Dubois R, Mure PY, de Saint Basile G, Louazon T, Rohmer B, Lachaux A, Duclaux R, Peretti N.
Arch Pediatr. 2018 Jun 16. pii: S0929-693X(18)30112-X. doi: 10.1016/j.arcped.2018.05.006. [Epub ahead of print]

PMID:
 
29921470
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2.
Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.
Mandiá N, Pérez-Muñuzuri A, López-Suárez O, López-Sanguos C, Bautista-Casanovas A, Couce ML.
Medicine (Baltimore). 2018 Jun;97(23):e10939. doi: 10.1097/MD.0000000000010939. Review.

PMID:
 
29879038
 
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3.
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders.
Mäkitie O, Vakkilainen S.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Mar 15 [updated 2018 May 24].

PMID:
 
22420014
 
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4.
Immunodeficiency.
Justiz Vaillant AA, Qurie A.
StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-.
2018 Oct 27.

PMID:
 
29763203
 
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5.
Newborn Screening for Severe Combined Immunodeficiency.
Routes J, Verbsky J.
Curr Allergy Asthma Rep. 2018 May 10;18(6):34. doi: 10.1007/s11882-018-0783-9. Review.

PMID:
 
29749587
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6.
Adenosine deaminase deficiency: a review.
Flinn AM, Gennery AR.
Orphanet J Rare Dis. 2018 Apr 24;13(1):65. doi: 10.1186/s13023-018-0807-5. Review.

PMID:
 
29690908
 
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7.
A Novel Approach to the Treatment of Plasma Protein Deficiency: Ex Vivo-Manipulated Adipocytes for Sustained Secretion of Therapeutic Proteins.
Kuroda M, Saito Y, Aso M, Yokote K.
Chem Pharm Bull (Tokyo). 2018;66(3):217-224. doi: 10.1248/cpb.c17-00786. Review.

PMID:
 
29491255
 
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8.
[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].
He TY, Xia Y, Li CG, Li CR, Qi ZX, Yang J.
Zhonghua Er Ke Za Zhi. 2018 Jan 2;56(1):48-52. doi: 10.3760/cma.j.issn.0578-1310.2018.01.013. Review. Chinese.

PMID:
 
29342998
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9.
Immunodeficiency in CHARGE syndrome.
Mehr S, Hsu P, Campbell D.
Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):516-523. doi: 10.1002/ajmg.c.31594. Epub 2017 Nov 21. Review.

PMID:
 
29159871
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10.
SCID pigs: An emerging large animal NK model.
Powell EJ, Cunnick JE, Tuggle CK.
J Rare Dis Res Treat. 2017;2(3):1-6. Epub 2017 Apr 18.

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29152615
 
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11.
Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.
King JR, Hammarström L.
J Clin Immunol. 2018 Jan;38(1):56-66. doi: 10.1007/s10875-017-0455-x. Epub 2017 Nov 8.

PMID:
 
29116556
 
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12.
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.
Zhong L, Wang W, Ma M, Gou L, Tang X, Song H.
Medicine (Baltimore). 2017 Oct;96(42):e7989. doi: 10.1097/MD.0000000000007989. Review.

PMID:
 
29049190
 
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13.
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.
Gallo V, Cirillo E, Giardino G, Pignata C.
J Clin Immunol. 2017 Nov;37(8):751-758. doi: 10.1007/s10875-017-0445-z. Epub 2017 Sep 21. Review.

PMID:
 
28932937
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14.
Long term outcomes of severe combined immunodeficiency: therapy implications.
Heimall J, Cowan MJ.
Expert Rev Clin Immunol. 2017 Nov;13(11):1029-1040. doi: 10.1080/1744666X.2017.1381558. Epub 2017 Sep 23. Review.

PMID:
 
28918671
 
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15.
Gene Therapy Approaches to Immunodeficiency.
Ghosh S, Gaspar HB.
Hematol Oncol Clin North Am. 2017 Oct;31(5):823-834. doi: 10.1016/j.hoc.2017.05.003. Epub 2017 Jun 29. Review.

PMID:
 
28895850
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16.
Opening Marrow Niches in Patients Undergoing Autologous Hematopoietic Stem Cell Gene Therapy.
Cowan MJ, Dvorak CC, Long-Boyle J.
Hematol Oncol Clin North Am. 2017 Oct;31(5):809-822. doi: 10.1016/j.hoc.2017.06.003. Epub 2017 Jul 28. Review.

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28895849
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17.
Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug.
Ferrua F, Aiuti A.
Hum Gene Ther. 2017 Nov;28(11):972-981. doi: 10.1089/hum.2017.175. Review.

PMID:
 
28847159
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18.
Advances in basic and clinical immunology in 2016.
Chinen J, Badran YR, Geha RS, Chou JS, Fried AJ.
J Allergy Clin Immunol. 2017 Oct;140(4):959-973. doi: 10.1016/j.jaci.2017.07.023. Epub 2017 Aug 19. Review.

PMID:
 
28826774
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19.
Haematopoietic stem cell transplantation for primary immunodeficiency syndromes: A 5-year single-centre experience.
Norman M, David C, Wainstein B, Ziegler JB, Cohn R, Mitchell R, O'Brien T, Russell S, Trahair T, Trickett A, Frith K, Gray P.
J Paediatr Child Health. 2017 Oct;53(10):988-994. doi: 10.1111/jpc.13643. Epub 2017 Jul 28.

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28752571
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20.
Omenn Syndrome and DNA recombination defects.
Yachie A.
Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(3):179-189. doi: 10.2177/jsci.40.179. Review. Japanese.

PMID:
 
28747605
 
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