Area of research
Immunology · Genetics
Research interest
Research interests include Immunodeficiency and Autoimmune Disorders, Inflammatory Bowel Disease, Immune Cell Function and Interaction, and T-cell and B-cell Immunology.
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
Optimized human intestinal organoid model reveals interleukin-22-dependency of paneth cell formation
Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease
Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases
Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency
Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations
Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation
Human IL-21 and IL-21R deficiencies
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy
The phenotype of human STK4 deficiency