İlhan Tezcan

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Despina Moshous, Isabelle Callebaut, Régina de Chasseval et al. · Cell · 2001 · 893 citations · Full text

Primary Immunodeficiency, Is Mutated, Genome Instability +11

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Xianqin Zhang, Dusan Bogunovic, Béatrice Payelle‐Brogard et al. · Nature · 2014 · 539 citations · Full text

Inflammation, Cytokine, Immunology +6

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

Matteo M. Guerrini, Cristina Sobacchi, Barbara Cassani et al. · The American Journal of Human Genetics · 2008 · 299 citations · Full text

Bone Disease, Rheumatology, Immunology +5

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Gaël Ménasché, Chen Hsuan Ho, Özden Sanal et al. · Journal of Clinical Investigation · 2003 · 289 citations · Full text

Melanophilin Defect, Genetics, Pathology +18