Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.

Fazel, A

Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. [electronic resource] - Allergologia et immunopathologia - 82-86 p. digital

Publication Type: Case Reports; Journal Article

1578-1267

10.1016/j.aller.2016.08.005 doi


Adrenal Cortex Hormones--therapeutic use
Autoimmunity--genetics
Child
Cytidine Deaminase--genetics
DNA Mutational Analysis
Dwarfism, Pituitary--genetics
Female
Genotype
Growth Hormone--therapeutic use
Hormone Replacement Therapy
Humans
Hyper-IgM Immunodeficiency Syndrome--genetics
Immunoglobulin M--blood
Infant
Iran
Mutation, Missense--genetics
Pedigree
Phenotype
AICDA (Activation-Induced Cytidine Deaminase)