TY  - GEN
AU  - Fazel,A
AU  - Kashef,S
AU  - Aleyasin,S
AU  - Harsini,S
AU  - Karamizadeh,Z
AU  - Zoghi,S
AU  - Flores,S K
AU  - Boztug,K
AU  - Rezaei,N
TI  - Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity
SN  - 1578-1267
PY  - 2017///0130
KW  - Adrenal Cortex Hormones
KW  - therapeutic use
KW  - Autoimmunity
KW  - genetics
KW  - Child
KW  - Cytidine Deaminase
KW  - DNA Mutational Analysis
KW  - Dwarfism, Pituitary
KW  - Female
KW  - Genotype
KW  - Growth Hormone
KW  - Hormone Replacement Therapy
KW  - Humans
KW  - Hyper-IgM Immunodeficiency Syndrome
KW  - Immunoglobulin M
KW  - blood
KW  - Infant
KW  - Iran
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - AICDA (Activation-Induced Cytidine Deaminase)
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.aller.2016.08.005
ER  -