Search details
1.
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
N Engl J Med
; 382(3): 256-265, 2020 01 16.
Article
in English
| MEDLINE | ID: mdl-31940699
2.
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.
J Clin Immunol
; 40(8): 1103-1110, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32851577
3.
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
J Clin Immunol
; 35(2): 189-98, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25627830
4.
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.
Blood
; 120(17): 3615-24; quiz 3626, 2012 Oct 25.
Article
in English
| MEDLINE | ID: mdl-22791287
5.
Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.
J Clin Immunol
; 33(1): 55-67, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22968740
6.
Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB.
Front Pediatr
; 8: 9, 2020.
Article
in English
| MEDLINE | ID: mdl-32117824
7.
In DOCK8 deficiency donor cell engraftment post-genoidentical hematopoietic stem cell transplantation is possible without conditioning.
J Allergy Clin Immunol
; 131(4): 1244-5, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23352633
8.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.
Nat Med
; 25(12): 1873-1884, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31806906
9.
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Medicine (Baltimore)
; 92(2): 109-122, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23429356
10.
Primary immunodeficiency diseases in the Middle East.
Ann N Y Acad Sci
; 1250: 56-61, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22299606
11.
Disseminated cryptococcal infection in patient with novel JAK3 mutation severe combined immunodeficiency, with resolution after stem cell transplantation.
Pediatr Infect Dis J
; 31(2): 204-6, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22138680
12.
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.
J Clin Invest
; 121(12): 4889-902, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22105173
13.
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.
Genet Test Mol Biomarkers
; 14(1): 135-9, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-19916794
14.
Revisiting human IL-12Rß1 deficiency: a survey of 141 patients from 30 countries.
Medicine (Baltimore)
; 89(6): 381-402, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-21057261
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