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Items: 1 to 20 of 75

1.

A loss of naivete.

Risma K.

Blood. 2012 Apr 12;119(15):3371-2. doi: 10.1182/blood-2012-02-410399.

2.

The phenotype of human STK4 deficiency.

Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C.

Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158.

3.

Neutropenia and primary immunodeficiency diseases.

Rezaei N, Moazzami K, Aghamohammadi A, Klein C.

Int Rev Immunol. 2009;28(5):335-66. doi: 10.1080/08830180902995645. Review.

PMID:
19811314
4.

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.

Nehme NT, Pachlopnik Schmid J, Debeurme F, André-Schmutz I, Lim A, Nitschke P, Rieux-Laucat F, Lutz P, Picard C, Mahlaoui N, Fischer A, de Saint Basile G.

Blood. 2012 Apr 12;119(15):3458-68. doi: 10.1182/blood-2011-09-378364.

5.

Genetic insights into congenital neutropenia.

Klein C, Welte K.

Clin Rev Allergy Immunol. 2010 Feb;38(1):68-74. doi: 10.1007/s12016-009-8130-5. Review.

PMID:
19440858
6.

Human tyk2 kinase deficiency: another primary immunodeficiency syndrome.

Watford WT, O'Shea JJ.

Immunity. 2006 Nov;25(5):695-7. Review.

7.

Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.

Dotta L, Badolato R.

Immunol Lett. 2014 Oct;161(2):222-5. doi: 10.1016/j.imlet.2013.11.018. Review.

PMID:
24316408
8.

[Primary immunodeficiency diseases].

Futatani T, Kanegane H, Miyawaki T.

Nihon Rinsho. 2005 May;63 Suppl 5:559-64. Review. Japanese. No abstract available.

PMID:
15954409
9.

Genetic analysis of the human CD3-epsilon gene in a T cell receptor/CD3 immunodeficiency.

Soudais C, De Villartay JP, Le Deist F, Fischer A, Lisowska-Grospierre B.

Immunodeficiency. 1993;4(1-4):117-9. No abstract available.

PMID:
8167684
10.

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.

Ehlayel M, de Beaucoudrey L, Fike F, Nahas SA, Feinberg J, Casanova JL, Gatti RA.

J Allergy Clin Immunol. 2008 Dec;122(6):1217-9. doi: 10.1016/j.jaci.2008.07.005. No abstract available.

PMID:
18718650
11.

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.

Gruber TA, Shah AJ, Hernandez M, Crooks GM, Abdel-Azim H, Gupta S, McKnight S, White D, Kapoor N, Kohn DB.

Pediatr Transplant. 2009 Mar;13(2):244-50. doi: 10.1111/j.1399-3046.2008.00970.x.

PMID:
18822103
12.

Signal-transduction defects in T cells.

Grunebaum E, Roifman CM.

Clin Rev Allergy Immunol. 2001 Feb;20(1):27-42. Review.

PMID:
11269226
13.

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.

Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA.

Nat Genet. 2003 May;34(1):70-4.

PMID:
12692554
14.

Phenotypic features of selective T cell deficiency characterized by absence of CD8+ T lymphocytes and undetectable mRNA for ZAP-70 kinase.

Mazer B, Harbeck RJ, Franklin R, Schwinzer R, Kubo R, Hayward A, Gelfand EW.

Clin Immunol Immunopathol. 1997 Aug;84(2):129-38.

PMID:
9245543
15.

Disabled receptor signaling and new primary immunodeficiency disorders.

Rudd CE.

N Engl J Med. 2006 May 4;354(18):1874-7. No abstract available.

PMID:
16672698
16.

Update on primary immunodeficiency: defects of lymphocytes.

Simonte SJ, Cunningham-Rundles C.

Clin Immunol. 2003 Nov;109(2):109-18. Review.

PMID:
14597209
17.

Foreword: Hematopoietic stem cell transplantation for primary immunodeficiency disorders, part II.

Alam R.

Immunol Allergy Clin North Am. 2010 May;30(2):ix-x. doi: 10.1016/j.iac.2010.03.005. No abstract available.

PMID:
20493391
18.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S.

J Clin Immunol. 2016 Feb;36(2):117-22. doi: 10.1007/s10875-016-0232-2. Erratum in: J Clin Immunol. 2016 Apr;36(3):336-7.

19.

Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor.

Arnaiz-Villena A, Timon M, Corell A, Perez-Aciego P, Martin-Villa JM, Regueiro JR.

N Engl J Med. 1992 Aug 20;327(8):529-33. No abstract available.

20.

Primary immunodeficiency diseases due to defects in lymphocytes.

Buckley RH.

N Engl J Med. 2000 Nov 2;343(18):1313-24. Review. No abstract available.

PMID:
11058677

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