PMID- 27419275
OWN - NLM
STAT- MEDLINE
DCOM- 20180827
LR  - 20201209
IS  - 1744-5078 (Electronic)
IS  - 0927-3948 (Linking)
VI  - 26
IP  - 1
DP  - 2018
TI  - A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and 
      Molecular Analysis.
PG  - 57-64
LID - 10.1080/09273948.2016.1185529 [doi]
AB  - PURPOSE: To describe the clinical and molecular implications of a novel mutation 
      in the NOD2/CARD15 gene on a family and its seven affected members. METHODS: We 
      reviewed the clinical presentations of family members who came to our center for 
      refractory uveitis. Genetic testing and molecular testing was performed. RESULTS: 
      All affected members had adult onset recurrent non-granulomatous panuveitis. The 
      inheritance pattern suggested an autosomal dominant disease and genetic analysis 
      identified a novel mutation in the NOD2 gene that converted amino acid 600 from 
      glutamate to alanine (E600A). Transfection of the E600A NOD2 into human embryonic 
      kidney-293 (HEK293) cells revealed constitutive activation and a reduced ability 
      to respond to the NOD2 ligand, muramyl dipeptide (MDP) as compared with wild-type 
      NOD2. CONCLUSIONS: The E600A mutation in the NOD2 gene may confer a higher 
      penetrance of uveitis but a later onset of milder forms of non-ocular 
      involvement.
FAU - Ebrahimiadib, Nazanin
AU  - Ebrahimiadib N
AD  - a Massachusetts Eye Research and Surgery Institution , Waltham , MA , USA.
AD  - b Ocular Immunology and Uveitis Foundation , Waltham , MA , USA.
FAU - Samra, Khawla Abu
AU  - Samra KA
AD  - a Massachusetts Eye Research and Surgery Institution , Waltham , MA , USA.
AD  - b Ocular Immunology and Uveitis Foundation , Waltham , MA , USA.
FAU - Domina, Aaron M
AU  - Domina AM
AD  - c Husson University School of Pharmacy , Bangor , Maine , USA.
FAU - Stiles, Ethan R
AU  - Stiles ER
AD  - c Husson University School of Pharmacy , Bangor , Maine , USA.
FAU - Ewer, Roger
AU  - Ewer R
AD  - c Husson University School of Pharmacy , Bangor , Maine , USA.
FAU - Bocian, Charlie P
AU  - Bocian CP
AD  - c Husson University School of Pharmacy , Bangor , Maine , USA.
FAU - Foster, C Stephen
AU  - Foster CS
AD  - a Massachusetts Eye Research and Surgery Institution , Waltham , MA , USA.
AD  - b Ocular Immunology and Uveitis Foundation , Waltham , MA , USA.
AD  - d Harvard Medical School, Department of Ophthalmology , Boston , Massachusetts , 
      USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160715
PL  - England
TA  - Ocul Immunol Inflamm
JT  - Ocular immunology and inflammation
JID - 9312169
RN  - 0 (Angiogenesis Inhibitors)
RN  - 0 (Glucocorticoids)
RN  - 0 (Immunosuppressive Agents)
RN  - 0 (NOD2 protein, human)
RN  - 0 (Nod2 Signaling Adaptor Protein)
RN  - 53678-77-6 (Acetylmuramyl-Alanyl-Isoglutamine)
RN  - Blau syndrome
SB  - IM
MH  - Acetylmuramyl-Alanyl-Isoglutamine/pharmacology
MH  - Adolescent
MH  - Adult
MH  - Angiogenesis Inhibitors/therapeutic use
MH  - Arthritis/diagnosis/drug therapy/*genetics
MH  - Child
MH  - Drug Therapy, Combination
MH  - Female
MH  - Fluorescein Angiography
MH  - Glucocorticoids/therapeutic use
MH  - HEK293 Cells
MH  - Humans
MH  - Immunosuppressive Agents/therapeutic use
MH  - Macular Edema/diagnosis
MH  - Male
MH  - Middle Aged
MH  - Molecular Biology
MH  - *Mutation
MH  - Nod2 Signaling Adaptor Protein/*genetics/metabolism
MH  - Optic Neuritis/diagnosis
MH  - Phenotype
MH  - Retinitis/diagnosis
MH  - Sarcoidosis
MH  - Scleritis/diagnosis
MH  - Synovitis/diagnosis/drug therapy/*genetics
MH  - Transfection
MH  - Uveitis/diagnosis/drug therapy/*genetics
MH  - Young Adult
OTO - NOTNLM
OT  - Arthritis
OT  - Blau syndrome
OT  - NOD2 associated auto-inflammatory disorder
OT  - NOD2/CARD15
OT  - dermatitis
OT  - early onset sarcoidosis
OT  - uveitis
EDAT- 2016/07/16 06:00
MHDA- 2018/08/28 06:00
CRDT- 2016/07/16 06:00
PHST- 2016/07/16 06:00 [pubmed]
PHST- 2018/08/28 06:00 [medline]
PHST- 2016/07/16 06:00 [entrez]
AID - 10.1080/09273948.2016.1185529 [doi]
PST - ppublish
SO  - Ocul Immunol Inflamm. 2018;26(1):57-64. doi: 10.1080/09273948.2016.1185529. Epub 
      2016 Jul 15.