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A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

artículo científico publicado en 2016

Abdominal cocoon: a unique presentation in an immunodeficient infant

artículo científico publicado en 2011

Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome

article

B cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.

artículo científico publicado en 2018

Chronic Rotavirus Infection in an Infant with Severe Combined Immunodeficiency: Successful Treatment by Hematopoietic Stem Cell Transplantation ⬇️

artículo científico publicado el 22 de diciembre de 2011

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

artículo científico publicado en 2013

Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease

artículo científico publicado en 2011

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

artículo científico publicado en 2021

Hemophagocytic lymphohistiocytosis in a patient with x-linked lymphoproliferative disease.

artículo científico publicado en 2009

High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease

artículo científico publicado en 2018

Lichen planus associated with omalizumab administration in an adult with allergic asthma

artículo científico publicado en 2009

Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb

article

Methicillin-susceptible Staphylococcus aureus brain abscess in common variable immunodeficiency after an 8-month gap in return to the immunologist

artículo científico publicado en 2008

Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome

artículo científico publicado en 2015

Role of IL-7 in the regulation of T-cell homeostasis in partial DiGeorge syndrome

artículo científico publicado en 2009

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

artículo científico publicado en 2017

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

artículo científico publicado en 2017

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

scientific article published on 28 August 2018

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

artículo científico publicado en 2014

Use of enteral immunoglobulin in NEMO syndrome for eradication of persistent symptomatic norovirus enteritis

scientific article published on 18 January 2016

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