The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous. Herein, we report an Iranian patient with MHC II deficiency harbouring a novel mutation in RFXANK and novel misleading clinical features. He had ataxic gait and dysarthria from 30 months of age. Epidemiology, clin...
Major histocompatibility class II (MHC-II) molecules are transmembrane proteins that have a central ...
Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosoma...
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in...
The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased...
PurposeMajor histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immun...
Abstract BACKGROUND: MHC class II deficiency leads to defective CD4+ T-cell function that results f...
Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of pri...
BACKGROUND: Major-histocompatibility-complex (MHC) class II deficiency is an autosomal recessive pri...
Major histocompatibility complex class II (MHCII) deficiency is a primary immunodeficiency resulting...
MHC class II deficiency is a severe primary immunodeficiency characterized by the absence of Major H...
The class II major histocompatibility complex antigen deficiency syndrome is a rare immunodeficiency...
PubMed ID: 25702838Background Most patients with MHC class I (MHC-I) deficiency carry genetic defect...
Background: Primary immunodeficiency (PID) is a heterogeneous group of inheritable genetic disorders...
Currently, primary immunodeficiencies (PID) are becoming an increasingly relevant issue: it is now e...
Pelizaeus¬-Merzbacher-like disease (PMLD) is a hypomyelinating leukoencephalopathy disorder with a g...
Major histocompatibility class II (MHC-II) molecules are transmembrane proteins that have a central ...
Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosoma...
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in...
The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased...
PurposeMajor histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immun...
Abstract BACKGROUND: MHC class II deficiency leads to defective CD4+ T-cell function that results f...
Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of pri...
BACKGROUND: Major-histocompatibility-complex (MHC) class II deficiency is an autosomal recessive pri...
Major histocompatibility complex class II (MHCII) deficiency is a primary immunodeficiency resulting...
MHC class II deficiency is a severe primary immunodeficiency characterized by the absence of Major H...
The class II major histocompatibility complex antigen deficiency syndrome is a rare immunodeficiency...
PubMed ID: 25702838Background Most patients with MHC class I (MHC-I) deficiency carry genetic defect...
Background: Primary immunodeficiency (PID) is a heterogeneous group of inheritable genetic disorders...
Currently, primary immunodeficiencies (PID) are becoming an increasingly relevant issue: it is now e...
Pelizaeus¬-Merzbacher-like disease (PMLD) is a hypomyelinating leukoencephalopathy disorder with a g...
Major histocompatibility class II (MHC-II) molecules are transmembrane proteins that have a central ...
Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosoma...
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in...
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