Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) Associated with KMT2D Gene Mutation in Kabuki Syndrome

Authors
Category Primary study
JournalJournal of Allergy and Clinical Immunology, suppl. S
Year 2016
[...]GLILD is well described in an increasing number of monogenic defects associated with immunodeficiency and immunodysregulation such as CTLA4 haploinsufficiency, LRBA deficiency and hypomorphic RAG1 mutations.
Epistemonikos ID: fe120184d76ae47b6194ec739de249de52191e6f
First added on: Feb 06, 2024