PMID- 26479985
OWN - NLM
STAT- MEDLINE
DCOM- 20160428
LR  - 20151023
IS  - 1536-3678 (Electronic)
IS  - 1077-4114 (Linking)
VI  - 37
IP  - 8
DP  - 2015 Nov
TI  - G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.
PG  - 616-22
LID - 10.1097/MPH.0000000000000441 [doi]
AB  - Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined 
      as a new severe congenital neutropenia subgroup remarkable with congenital heart 
      defects, urogenital malformations, endocrine abnormalities, and prominent 
      superficial veins. Here, we report 3 patients with G6PC3 deficiency presenting 
      with recurrent diarrhea, failure to thrive, and sinopulmonary infections leading 
      to bronchiectasis. In patient I and II, a combined immune deficiency was 
      suspected due to early-onset disease with lymphopenia, neutropenia, and 
      thrombocytopenia, along with variable reductions in lymphocyte subpopulations and 
      favorable response to intravenous gamma-globulin therapy. Apart from neutropenia, all 
      3 patients had intermittent thrombocytopenia, anemia, and lymphopenia. All 
      patients had failure to thrive and some of the classic syndromic features of 
      G6PC3 deficiency, including cardiac abnormalities and visibility of superficial 
      veins in all, endocrinologic problems in PI and PIII, and urogenital 
      abnormalities in PII. Our experience suggests that a diagnosis of congenital 
      neutropenia due to G6PC3 may not be as straightforward in such patients with 
      combined lymphopenia and thrombocytopenia. A high index of suspicion and the 
      other syndromic features of G6PC3 were clues to diagnosis. Screening of all 
      combined immune deficiencies with neutropenia may help to uncover the whole 
      spectra of G6PC3 deficiency.
FAU - Kiykim, Ayca
AU  - Kiykim A
AD  - *Division of Pediatric Allergy and Immunology daggerDepartment of Pathology, Marmara 
      University Pendik Training and Research Hospital, Istanbul, Turkey double daggerCeMM Research 
      Center for Molecular Medicine of the Austrian Academy of Sciences  section signDepartment of 
      Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, 
      Austria.
FAU - Baris, Safa
AU  - Baris S
FAU - Karakoc-Aydiner, Elif
AU  - Karakoc-Aydiner E
FAU - Ozen, Ahmet O
AU  - Ozen AO
FAU - Ogulur, Ismail
AU  - Ogulur I
FAU - Bozkurt, Suheyla
AU  - Bozkurt S
FAU - Ataizi, Cigdem C
AU  - Ataizi CC
FAU - Boztug, Kaan
AU  - Boztug K
FAU - Barlan, Isil B
AU  - Barlan IB
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Pediatr Hematol Oncol
JT  - Journal of pediatric hematology/oncology
JID - 9505928
RN  - 0 (Codon, Nonsense)
RN  - 0 (RNA Splice Sites)
RN  - EC 3.1.3.9 (Glucose-6-Phosphatase)
RN  - EC 3.1.3.9. (G6PC3 protein, human)
RN  - Neutropenia, Severe Congenital, Autosomal Recessive 4
SB  - IM
MH  - Abnormalities, Multiple/enzymology/*genetics
MH  - Adolescent
MH  - Bronchiectasis/etiology
MH  - Catalytic Domain
MH  - Cell Lineage
MH  - Child
MH  - Codon, Nonsense
MH  - Colitis/enzymology/genetics
MH  - Consanguinity
MH  - Diarrhea/enzymology/genetics
MH  - Exons/genetics
MH  - Failure to Thrive/enzymology/genetics
MH  - Female
MH  - Frameshift Mutation
MH  - Glucose-6-Phosphatase/*genetics
MH  - Glycogen Storage Disease Type I/*genetics/immunology
MH  - Humans
MH  - Immunologic Deficiency Syndromes/enzymology/*genetics
MH  - Lymphocyte Subsets/*pathology
MH  - Lymphopenia/congenital/enzymology/genetics
MH  - Male
MH  - Mutagenesis, Insertional
MH  - Neutropenia/enzymology/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - RNA Splice Sites/genetics
MH  - Respiratory Tract Infections/complications
MH  - Thrombocytopenia/congenital/enzymology/genetics
MH  - Turkey
EDAT- 2015/10/20 06:00
MHDA- 2016/04/29 06:00
CRDT- 2015/10/20 06:00
PHST- 2015/10/20 06:00 [entrez]
PHST- 2015/10/20 06:00 [pubmed]
PHST- 2016/04/29 06:00 [medline]
AID - 10.1097/MPH.0000000000000441 [doi]
PST - ppublish
SO  - J Pediatr Hematol Oncol. 2015 Nov;37(8):616-22. doi: 
      10.1097/MPH.0000000000000441.