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Inicio Allergologia et Immunopathologia MHC class II deficiency: Report of a novel mutation and special review
Journal Information
Vol. 46. Issue 3.
Pages 263-275 (May - June 2018)
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Vol. 46. Issue 3.
Pages 263-275 (May - June 2018)
Review
DOI: 10.1016/j.aller.2017.04.006
MHC class II deficiency: Report of a novel mutation and special review
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S. Farrokhia, M. Shabanib,c,j, Z. Aryanb,d, S. Zoghib,c, A. Kroloe,f,g,h, K. Boztuge,f,g,h, N. Rezaeib,i,j,
Corresponding author
rezaei_nima@tums.ac.ir

Corresponding author.
a Department of Immunology, Asthma and Allergy, The Persian Gulf Tropical Medicine Research Center, Bushehr University of Medical Sciences, Bushehr, Iran
b Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
c Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran
d Pediatric Respiratory Diseases Education and Research Network (PRDERN), Universal Scientific Education and Research Network (USERN), Tehran, Iran
e CeMM Research Center of Molecular Medicine, Austrian Academy of Sciences, and Division of Neonatal Medicine and Intensive Care, Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria
f Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria
g Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
h St Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria
i Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
j Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Boston, MA, USA
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Figures (2)
Tables (5)
Table 1. Immunological features of the patient with the associated normal range in this patient's age group. white blood cells (WBC), immunoglobulin (Ig).
Table 2. Group A mutations. Not determined (ND), number (N.), patients (Pts).
Table 3. Group B mutations. Not determined (ND), failure to thrive (FTT), HPV (human papilloma virus), number (N.), patients (Pts).
Table 4. Group C mutations. DNA binding domain (DBD), not determined (ND), number (N.), patients (Pts).
Table 5. Group D mutations. Amino acid (aa), not determined (ND), cytomegalovirus (CMV), number (N.), patients (Pts).
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Abstract

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, clinical and immunological features, therapeutic options and prognosis of patients with MHC II are reviewed in this paper.

Keywords:
MHC class II deficiency
CIITA
RFXANK
RFX5
RFXAP

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