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Items: 15


Unbalanced Immune System: Immunodeficiencies and Autoimmunity.

Giardino G, Gallo V, Prencipe R, Gaudino G, Romano R, De Cataldis M, Lorello P, Palamaro L, Di Giacomo C, Capalbo D, Cirillo E, D'Assante R, Pignata C.

Front Pediatr. 2016 Oct 6;4:107. eCollection 2016. Review.


Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Boisson B, Quartier P, Casanova JL.

Curr Opin Immunol. 2015 Feb;32:90-105. doi: 10.1016/j.coi.2015.01.005. Epub 2015 Jan 31. Review.


Congenital defects in neutrophil dynamics.

Keszei M, Westerberg LS.

J Immunol Res. 2014;2014:303782. doi: 10.1155/2014/303782. Epub 2014 Aug 5. Review.


Variation Ontology for annotation of variation effects and mechanisms.

Vihinen M.

Genome Res. 2014 Feb;24(2):356-64. doi: 10.1101/gr.157495.113. Epub 2013 Oct 25.


Actin cytoskeletal defects in immunodeficiency.

Moulding DA, Record J, Malinova D, Thrasher AJ.

Immunol Rev. 2013 Nov;256(1):282-99. doi: 10.1111/imr.12114. Review. Erratum in: Immunol Rev. 2016 May;271(1):293.


Excess F-actin mechanically impedes mitosis leading to cytokinesis failure in X-linked neutropenia by exceeding Aurora B kinase error correction capacity.

Moulding DA, Moeendarbary E, Valon L, Record J, Charras GT, Thrasher AJ.

Blood. 2012 Nov 1;120(18):3803-11. doi: 10.1182/blood-2012-03-419663. Epub 2012 Sep 12.


Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS.

Vandenberghe P, Beel K.

Pediatr Rep. 2011 Jun 22;3 Suppl 2:e9. doi: 10.4081/pr.2011.s2.e9.


Congenital neutropenia: diagnosis, molecular bases and patient management.

Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB.

Orphanet J Rare Dis. 2011 May 19;6:26. doi: 10.1186/1750-1172-6-26. Review.


Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.

Westerberg LS, Meelu P, Baptista M, Eston MA, Adamovich DA, Cotta-de-Almeida V, Seed B, Rosen MK, Vandenberghe P, Thrasher AJ, Klein C, Alt FW, Snapper SB.

J Exp Med. 2010 Jun 7;207(6):1145-52. doi: 10.1084/jem.20091245. Epub 2010 May 31.


Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.

Pai SY, Notarangelo LD.

Immunol Allergy Clin North Am. 2010 May;30(2):179-94. doi: 10.1016/j.iac.2010.02.001. Review.


A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes.

Burns SO, Killock DJ, Moulding DA, Metelo J, Nunes J, Taylor RR, Forge A, Thrasher AJ, Ivetic A.

Blood. 2010 Jul 1;115(26):5355-65. doi: 10.1182/blood-2009-08-236174. Epub 2010 Mar 30.


Phosphorylation of WASp is a key regulator of activity and stability in vivo.

Blundell MP, Bouma G, Metelo J, Worth A, Calle Y, Cowell LA, Westerberg LS, Moulding DA, Mirando S, Kinnon C, Cory GO, Jones GE, Snapper SB, Burns SO, Thrasher AJ.

Proc Natl Acad Sci U S A. 2009 Sep 15;106(37):15738-43. doi: 10.1073/pnas.0904346106. Epub 2009 Sep 1.


G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.

Beel K, Vandenberghe P.

Haematologica. 2009 Oct;94(10):1449-52. doi: 10.3324/haematol.2009.009001.


Molecular basis of congenital neutropenia.

Klein C.

Haematologica. 2009 Oct;94(10):1333-6. doi: 10.3324/haematol.2009.012260. No abstract available.


Genetics of hypogammaglobulinemia: what do we really know?

Conley ME.

Curr Opin Immunol. 2009 Oct;21(5):466-71. doi: 10.1016/j.coi.2009.07.003. Epub 2009 Aug 3. Review.

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