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Items: 1 to 20 of 379

1.

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
2.

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.

Somech R, Lev A, Simon AJ, Korn D, Garty BZ, Amariglio N, Rechavi G, Almashanu S, Zlotogora J, Etzioni A.

Isr Med Assoc J. 2013 Aug;15(8):404-9.

3.

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.

Froňková E, Klocperk A, Svatoň M, Nováková M, Kotrová M, Kayserová J, Kalina T, Keslová P, Votava F, Vinohradská H, Freiberger T, Mejstříková E, Trka J, Sedivá A.

PLoS One. 2014 Dec 8;9(12):e114514. doi: 10.1371/journal.pone.0114514. eCollection 2014.

4.

Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency.

Amariglio N, Lev A, Simon A, Rosenthal E, Spirer Z, Efrati O, Broides A, Rechavi G, Somech R.

Pediatr Res. 2010 Feb;67(2):211-6. doi: 10.1203/PDR.0b013e3181c6e554.

PMID:
19858778
5.

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.

6.

Newborn screening for SCID: three years of experience.

Chase NM, Verbsky JW, Routes JM.

Ann N Y Acad Sci. 2011 Nov;1238:99-105. doi: 10.1111/j.1749-6632.2011.06241.x.

PMID:
22129057
7.

Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.

Lingman Framme J, Borte S, von Döbeln U, Hammarström L, Oskarsdóttir S.

J Clin Immunol. 2014 May;34(4):514-9. doi: 10.1007/s10875-014-0002-y. Epub 2014 Mar 9.

PMID:
24610337
8.

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

Gerstel-Thompson JL, Wilkey JF, Baptiste JC, Navas JS, Pai SY, Pass KA, Eaton RB, Comeau AM.

Clin Chem. 2010 Sep;56(9):1466-74. doi: 10.1373/clinchem.2010.144915. Epub 2010 Jul 21.

9.

Thymic function in MHC class II-deficient patients.

Lev A, Simon AJ, Broides A, Levi J, Garty BZ, Rosenthal E, Amariglio N, Rechavi G, Somech R.

J Allergy Clin Immunol. 2013 Mar;131(3):831-9. doi: 10.1016/j.jaci.2012.10.040. Epub 2012 Dec 8.

PMID:
23228244
10.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C.

J Allergy Clin Immunol. 2014 Jul;134(1):155-9. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24.

PMID:
24767876
11.

Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient.

Thoenes G, Soudais C, le Deist F, Griscelli C, Fischer A, Lisowska-Grospierre B.

J Biol Chem. 1992 Jan 5;267(1):487-93.

12.

T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation.

Sarzotti M, Patel DD, Li X, Ozaki DA, Cao S, Langdon S, Parrott RE, Coyne K, Buckley RH.

J Immunol. 2003 Mar 1;170(5):2711-8.

13.

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.

Turul T, Tezcan I, Artac H, de Bruin-Versteeg S, Barendregt BH, Reisli I, Sanal O, van Dongen JJ, van der Burg M.

Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29.

PMID:
18509675
14.

NK cell function in severe combined immunodeficiency (SCID): evidence of a common T and NK cell defect in some but not all SCID patients.

Peter HH, Friedrich W, Dopfer R, Müller W, Kortmann C, Pichler WJ, Heinz F, Rieger CH.

J Immunol. 1983 Nov;131(5):2332-9.

PMID:
6415162
15.

Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

Patel DD, Gooding ME, Parrott RE, Curtis KM, Haynes BF, Buckley RH.

N Engl J Med. 2000 May 4;342(18):1325-32.

16.

The Wisconsin approach to newborn screening for severe combined immunodeficiency.

Verbsky J, Thakar M, Routes J.

J Allergy Clin Immunol. 2012 Mar;129(3):622-7. doi: 10.1016/j.jaci.2011.12.004. Epub 2012 Jan 11.

PMID:
22244594
17.

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, Kaneda Y, Taga T, Hisakawa H, Miyaji R, Endo M, Oh-Ishi T, Kamachi Y, Akahane K, Kobayashi C, Tsuchida M, Morio T, Sasahara Y, Kumaki S, Ishigaki K, Yoshida M, Urabe T, Kobayashi N, Okimoto Y, Reichenbach J, Hashii Y, Tsuji Y, Kogawa K, Yamaguchi S, Kanegane H, Miyawaki T, Yamada M, Ariga T, Nonoyama S.

J Pediatr. 2009 Dec;155(6):829-33. doi: 10.1016/j.jpeds.2009.05.026. Epub 2009 Jul 22.

PMID:
19628217
18.

An in vivo functional immune system lacking polyclonal T-cell surface expression of the CD3/Ti(WT31) complex.

Regueiro JR, López-Botet M, De Landazuri MO, Alcami J, Corell A, Martín-Villa JM, Vicario JL, Arnaiz-Villena A.

Scand J Immunol. 1987 Dec;26(6):699-708.

PMID:
2962274
19.

CD3 delta immunodeficiency.

Roifman CM.

Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):479-84. Review.

PMID:
15640687
20.

Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).

Verbsky JW, Baker MW, Grossman WJ, Hintermeyer M, Dasu T, Bonacci B, Reddy S, Margolis D, Casper J, Gries M, Desantes K, Hoffman GL, Brokopp CD, Seroogy CM, Routes JM.

J Clin Immunol. 2012 Feb;32(1):82-8. doi: 10.1007/s10875-011-9609-4. Epub 2011 Nov 10.

PMID:
22068910

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