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1.
Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome.
Blood
; 136(26): 2994-3003, 2020 12 24.
Article
in English
| MEDLINE | ID: mdl-32870250
2.
ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
J Allergy Clin Immunol
; 147(2): 743-745.e1, 2021 02.
Article
in English
| MEDLINE | ID: mdl-32628964
3.
Combined immunodeficiency in a patient with c-Rel deficiency.
J Allergy Clin Immunol
; 144(2): 606-608.e4, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31103457
4.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
J Allergy Clin Immunol
; 143(6): 2317-2321.e12, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30822429
5.
DOCK8 Mutation Syndrome: A Diagnostic Challenge for Dermatologists.
Acta Derm Venereol
; 96(7): 991-992, 2016 11 02.
Article
in English
| MEDLINE | ID: mdl-26573532
6.
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
J Clin Invest
; 131(3)2021 02 01.
Article
in English
| MEDLINE | ID: mdl-33529166
7.
Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization.
J Exp Med
; 214(7): 2023-2040, 2017 Jul 03.
Article
in English
| MEDLINE | ID: mdl-28550161
8.
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
Orphanet J Rare Dis
; 7: 71, 2012 Sep 25.
Article
in English
| MEDLINE | ID: mdl-23009155
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