Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
JE Walter, LB Rosen, K Csomos… - The Journal of …, 2015 - Am Soc Clin Investig
Patients with mutations of the recombination-activating genes (RAG) present with diverse
clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity …
clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity …
Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency
OM Delmonte, A Villa… - Blood, The Journal of the …, 2020 - ashpublications.org
Traditionally, primary immune deficiencies have been defined based on increased
susceptibility to recurrent and/or severe infections. However, immune dysregulation …
susceptibility to recurrent and/or severe infections. However, immune dysregulation …
[HTML][HTML] Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency
JR Farmer, Z Foldvari, B Ujhazi, SS De Ravin… - The Journal of Allergy …, 2019 - Elsevier
Background Although autoimmunity and hyperinflammation secondary to recombination
activating gene (RAG) deficiency have been associated with delayed diagnosis and even …
activating gene (RAG) deficiency have been associated with delayed diagnosis and even …
RAG deficiency: two genes, many diseases
Purpose To review the clinical and laboratory spectrum of RAG gene defects in humans, and
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …
Leaky RAG deficiency in adult patients with impaired antibody production against bacterial polysaccharide antigens
CB Geier, A Piller, A Linder, KMT Sauerwein, MM Eibl… - PloS one, 2015 - journals.plos.org
Loss of function mutations in the recombination activating genes RAG1 and RAG2 have
been reported to cause a TB-NK+ type of severe combined immunodeficiency. In addition …
been reported to cause a TB-NK+ type of severe combined immunodeficiency. In addition …
Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations
Hypomorphic mutations that lead to “leaky” severe combined immunodeficiency
presentation with partial protein function are increasingly being identified. Mutations in …
presentation with partial protein function are increasingly being identified. Mutations in …
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency
H Abolhassani, N Wang, A Aghamohammadi… - Journal of allergy and …, 2014 - Elsevier
Background Recombination-activating gene 1 (RAG1) deficiency presents with a varied
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+ …
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+ …
Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders
D Buchbinder, R Baker, YN Lee, J Ravell… - Journal of clinical …, 2015 - Springer
Purpose Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two
patients presented with the prior clinical diagnosis of common variable immunodeficiency …
patients presented with the prior clinical diagnosis of common variable immunodeficiency …
More than just SCID—the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2
Combined immunodeficiencies with impaired numbers and function of T-and B-cells can be
attributed to defects in the recombinase activating genes (RAG). The products of these …
attributed to defects in the recombinase activating genes (RAG). The products of these …
RAG gene defects at the verge of immunodeficiency and immune dysregulation
A Villa, LD Notarangelo - Immunological reviews, 2019 - Wiley Online Library
Mutations of the recombinase activating genes (RAG) in humans underlie a broad spectrum
of clinical and immunological phenotypes that reflect different degrees of impairment of T …
of clinical and immunological phenotypes that reflect different degrees of impairment of T …