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Articles by J. Shliozberg
M252 IMMUNOREGULATORY GENE MUTATIONS IN A PATIENT WITH HYPER IGD SYNDROME
To view the full text, please login as a subscribed user or purchase a subscription. Click here to view the full text on ScienceDirect. Hyper IgD syndrome (HIDS) associated with mutations in the gene encoding mevalonate kinase ( MVK) is reported in approximately 75% of cases. Similar clinical phenotypes have been described in the absence of such mutations, known as variant HIDS. Gene mutations in variant HIDS have not been well characterized in literature.
NEW PATHOGENIC VARIANT ON IL-7R GENE ASSOCIATED WITH SCID
NEW PATHOGENIC VARIANT ON IL-7R GENE ASSOCIATED WITH SCID © 2018 Published by Elsevier Inc.
P181 17 year-old female with idiopathic hypereosinophilic syndrome presenting as angioedema and eosinophilic pleural effusions
To view the full text, please login as a subscribed user or purchase a subscription. Click here to view the full text on ScienceDirect. FiguresComputed tomography of the chest showing bilateral pleural effusions (red arrows), axillary lymphadenopathy (blue arrows), and mediastinal lymphadenopathy (yellow arrow).Idiopathic hypereosinophilic syndrome (IHES) is defined as eosinophils greater than 1,500 cells/?L with end organ damage and exclusion of other causes of eosinophilia.
P276 Homozygous TRNT1 (TRNA nucleotidyl transferase 1) mutation in a patient with pyropoikilocytosis and humoral immunodeficiency
To view the full text, please login as a subscribed user or purchase a subscription. Click here to view the full text on ScienceDirect. Mutation of TRNT1 can lead to sideroblastic anemia, developmental delay, sensorineural hearing loss, periodic fevers, and hypogammaglobulienmia. We describe a unique presentation of homozygous TRNT1 mutation. To access this article, please choose from the options below ACAAI Member Login Login with your ACAAI username and password.
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