A large single‐center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey

Improved transplant survival and long-term disease outcome in children with MHC class II deficiency

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A novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency: a case report

(2020) Farhad Abolnezhadian et al.   IMMUNOLOGIC RESEARCH

Cytomegalovirus Retinitis: A Review

(2017) Alexander D. Port et al.   JOURNAL OF OCULAR PHARMACOLOGY AND THERAPEUTICS

Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management

(2017) Seza Özen et al.   Frontiers in Immunology

Practice parameter for the diagnosis and management of primary immunodeficiency

(2015) Francisco A. Bonilla et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Severe combined immunodeficiencies and related disorders

(2015) Alain Fischer et al.   Nature Reviews Disease Primers

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(2014) Suheir Hanna et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach

(2013) Isabelle Jéru et al.   PLoS One

Alternative donor SCT for the treatment of MHC Class II deficiency

(2012) T N Small et al.   BONE MARROW TRANSPLANTATION

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)

(2012) Alessandra Fierabracci et al.   GENE

Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile

(2012) Waleed Al-Herz et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

(2012) Donatella Capalbo et al.   International Journal of Endocrinology

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

(2011) M. Ouederni et al.   BLOOD

Allogeneic Stem Cell Transplantation Using Myeloablative and Reduced-Intensity Conditioning in Patients with Major Histocompatibility Complex Class II Deficiency

(2010) Hamoud Al-Mousa et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

The Transcription Factor RFX Protects MHC Class II Genes against Epigenetic Silencing by DNA Methylation

(2009) Q. Seguin-Estevez et al.   JOURNAL OF IMMUNOLOGY

Adrenal insufficiency associated with cytomegalovirus infection in two infants

(2008) Ener Cagri Dinleyici et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Transcriptional silencing of RFXAP in MHC class II-deficiency☆

(2008) Marja C.J.A. van Eggermond et al.   MOLECULAR IMMUNOLOGY