PMID- 14635404
OWN - NLM
STAT- MEDLINE
DCOM- 20040210
LR  - 20191108
IS  - 0911-4300 (Print)
IS  - 0911-4300 (Linking)
VI  - 26
IP  - 5
DP  - 2003 Oct
TI  - [A case of Williams syndrome with p47-phox-deficient chronic granulomatous 
      disease].
PG  - 299-303
AB  - A 2-month-old boy with a characteristic elfin face was diagnosed as having 
      Williams syndrome by means of specific fluorescence in situ hybridization (FISH) 
      analysis for a chromosomal microdeletion located in 7q11.23. He was suspected to 
      have immunodeficiency because of a persistent enlargement of axillary lymphnodes 
      after immunization with Bacille Calmette-Guerin (BCG) vaccine since 7 month-old 
      of age. The nitroblue tetrazolium test (NBT) and the chemiluminescence test 
      revealed an absence of superoxide production. Western blotting and DNA sequence 
      analysis confirmed the diagnosis of p47-phox-deficient autosomal recessive 
      chronic granulomatous disease (CGD) (A47 degrees CGD). The predominant genetic 
      defect in A47 degrees CGD was a GT deletion at the beginning of exon 2 in 
      neutrophil cytosol factor 1 gene (NCF1) located in 7q11.23. It suggests that CGD 
      in this patient resulted from the hemizygosity of recessive genetic mutation in 
      NCF1 located at 7q11.23 associated with Williams syndrome. In such a disease with 
      the chromosomal microdeletion like Williams syndrome, we should consider a 
      combination with autosomal recessive diseases, the genes of which are located in 
      the hemizygous region.
FAU - Kabuki, Tomoyuki
AU  - Kabuki T
AD  - Division of Infectious Diseases, Immunology and Allergy, Saitama Children's 
      Medical Center.
FAU - Kawai, Toshinao
AU  - Kawai T
FAU - Kin, Yoshiaki
AU  - Kin Y
FAU - Joh, Kohsuke
AU  - Joh K
FAU - Ohashi, Hirofumi
AU  - Ohashi H
FAU - Kosho, Tomoki
AU  - Kosho T
FAU - Yachie, Akihiro
AU  - Yachie A
FAU - Kanegane, Hirokazu
AU  - Kanegane H
FAU - Miyawaki, Toshio
AU  - Miyawaki T
FAU - Oh-ishi, Tsutomu
AU  - Oh-ishi T
LA  - jpn
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Nihon Rinsho Meneki Gakkai Kaishi
JT  - Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology
JID - 9505992
RN  - 0 (Phosphoproteins)
RN  - EC 1.6.3.- (NADPH Oxidases)
RN  - EC 1.6.3.1 (neutrophil cytosolic factor 1)
SB  - IM
MH  - Granulomatous Disease, Chronic/*complications/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - NADPH Oxidases
MH  - Phosphoproteins/*genetics
MH  - Williams Syndrome/*complications/*genetics
EDAT- 2003/11/26 05:00
MHDA- 2004/02/11 05:00
CRDT- 2003/11/26 05:00
PHST- 2003/11/26 05:00 [pubmed]
PHST- 2004/02/11 05:00 [medline]
PHST- 2003/11/26 05:00 [entrez]
AID - 10.2177/jsci.26.299 [doi]
PST - ppublish
SO  - Nihon Rinsho Meneki Gakkai Kaishi. 2003 Oct;26(5):299-303. doi: 
      10.2177/jsci.26.299.