title: Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.
abstract: BACKGROUND
  The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely reported to be associated with growth hormone deficiency (GHD).
  
  
  RESULTS
  A nine-year-old girl with recurrent urinary tract infections, diarrhoea, sinopulmonary infections, and failure to thrive since the age of six months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and natural killer (NK) cells, but extremely elevated IgM and significantly decreased IgG and IgA. In view of the patient's short stature, growth hormone evaluation was carried out and growth hormone deficiency established. The patient underwent Ig replacement therapy and received growth hormone therapy in addition to antibiotics and responded well. Furthermore, the patient developed benign cervical lymphadenopathy, as well as elevated erythrocyte sedimentation rate, positive autoantibodies to SSA-Ro, and severely dry eyes, which partially responded to both the punctate occlusion and systemic corticosteroids, at the age of seven years. Sequencing analysis of the exons from activation-induced cytidine deaminase (AICDA) gene revealed that the patient was homozygous for a single T to C transversion at position 455 in exon 4, which replaces a Valine with an Alanine.
  
  
  CONCLUSIONS
  To our knowledge, this is a new AICDA mutation, which has not been reported previously in HIGM. The mutation analysis could improve diagnosis of HIGM patients and also elaborating on the spectrum of AICDA mutations.
authors: Allergy Research Center, Division of Pediatric Immunology and Allergy, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: A
authors: A
authors: Fazel
authors: Allergy Research Center, Division of Pediatric Immunology and Allergy, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: sara.kashef@gmail.com.
authors: S
authors: S
authors: Kashef
authors: Allergy Research Center, Division of Pediatric Immunology and Allergy, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: S
authors: S
authors: Aleyasin
authors: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
authors: S
authors: S
authors: Harsini
authors: Division of Pediatric Endocrinology, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Z
authors: Z
authors: Karamizadeh
authors: Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors: S
authors: S
authors: Zoghi
authors: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors: S K
authors: SK
authors: Flores
authors: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors: K
authors: K
authors: Boztug
authors: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Sheffield, UK. Electronic address: rezaei_nima@tums.ac.ir.
authors: N
authors: N
authors: Rezaei
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D015551:Autoimmunity / Q000235:genetics; D002648:Child; D003564:Cytidine Deaminase / Q000235:genetics*; D004252:DNA Mutational Analysis; D004393:Dwarfism, Pituitary / Q000235:genetics*; D005260:Female; D005838:Genotype; D013006:Growth Hormone / Q000627:therapeutic use*; D020249:Hormone Replacement Therapy; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000235:genetics*; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D007492:Iran; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D000305:Adrenal Cortex Hormones; D007075:Immunoglobulin M; D013006:Growth Hormone; D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase
keywords: Autoimmunity; Class switch recombination; Growth hormone deficiency; Hyper-IgM syndrome