Gene abbreviation | Full gene name | Inheritance | Disorder name/phenotype* |
ADA2 | Adenosine deaminase 2 | AR | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome |
CASP8 | Caspase 8 | AR | Autoimmune lymphoproliferative syndrome, type IIB |
CASP10 | Caspase 10 | AD | Autoimmune lymphoproliferative syndrome, type IIA |
CD27 | CD27 molecule | AR | Lymphoproliferative syndrome 2 |
CD70 | CD70 molecule | AR | Lymphoproliferative syndrome 3 |
CDC42 | Cell division cycle 42 | AD | CDC42 deficiency |
CTLA4 | Cytotoxic T-lymphocyte-associated protein 4 | AD | Autoimmune lymphoproliferative syndrome, type V |
FAS | Fas cell surface death receptor | AD | Autoimmune lymphoproliferative syndrome, type IA |
FASLG | Fas ligand | AD | Autoimmune lymphoproliferative syndrome, type IB |
FCHO1 | FCH domain only protein 1 | AR | Immunodeficiency 76 |
IL2RB | Interleukin 2 receptor beta | AR | Immunodeficiency 63 with lymphoproliferation and autoimmunity |
ITK | Interleukin 2-inducible T cell kinase | AR | Lymphoproliferative syndrome 1 |
KRAS | Kras protooncogene GTPase | AD | RAS-associated autoimmune leukoproliferative disorder |
LAT | Linker for activation of T cells | AR | Immunodeficiency 52 |
LRBA | LPS-responsive beige-like anchor protein | AR | Common variable immunodeficiency-8 with autoimmunity |
MAGT1 | Magnesium transporter 1 | XLR | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
NCKAP1L | NCK-associated protein 1-like | AR | Immunodeficiency 72 with autoinflammation |
NRAS | Nras protooncogene GTPase | AR | RAS-associated autoimmune leukoproliferative disorder |
PIK3CD | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | AD | Activated PI3K delta syndrome 1 |
PIK3R1 | Phosphoinositide-3-kinase regulatory subunit 1 | AD | Activated PI3K delta syndrome 2 |
PRKCD | Protein kinase C delta | AR | Autoimmune lymphoproliferative syndrome, type III |
RASGRP1 | RAS guanyl-releasing protein 1 | AR | Immunodeficiency 64 |
RBCK1 | RANBP2-type and C3HC4-type zinc finger containing 1 | AR | Polyglucosan body myopathy 1 with or without immunodeficiency |
RIPK1 | Receptor-interacting serine/threonine kinase 1 | AD | Autoinflammation with episodic fever and lymphadenopathy |
SH2D1A | SH2 domain containing 1A | XLR | X-linked lymphoproliferative syndrome 1 |
STAT3 | Signal transducer and activator of transcription 3 | AD | Autoimmune disease, multisystem, infantile onset |
STK4 | Serine/threonine kinase 4 | AR | T cell immunodeficiency with recurrent infections, autoimmunity, and cardiac malformations |
TET2 | Tet methylcytosine dioxygenase 2 | AR | Immunodeficiency 75 |
TLR8 | Toll-like receptor 8 | XLR | Immunodeficiency 98 with autoinflammation, X linked |
TNFRSF9 | Tumor necrosis factor receptor superfamily member 9 | AR | 4-1BB (CD137) deficiency |
XIAP | X-linked inhibitor of apoptosis | XLR | X-linked lymphoproliferative syndrome 2 |
AR: autosomal recessive; AD: autosomal dominant; IgE: immunoglobulin E; OMIM: Online Mendelian Inheritance in Man; XLR: X-linked recessive.
* The phenotypic descriptions were derived from OMIM phenotype labels.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟