Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency

Pınar Gur Cetinkaya 1 , Deniz Cagdas 1 , Tugba Arikoglu 2 , Fatma Gumruk 1 ,  and Ilhan Tezcan 1
  • 1 Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey
  • 2 Department of Pediatrics, Division of Pediatric Allergy and Immunology, Mersin University Faculty of Medicine, Mersin, Turkey
Pınar Gur CetinkayaORCID iD: https://orcid.org/0000-0002-2138-802X, Deniz CagdasORCID iD: https://orcid.org/0000-0003-2213-4627, Tugba ArikogluORCID iD: https://orcid.org/0000-0003-3340-571X, Fatma GumrukORCID iD: https://orcid.org/0000-0001-5102-0624 and Ilhan TezcanORCID iD: https://orcid.org/0000-0001-7257-4554

Abstract

Objectives

Severe congenital neutropenia (SCN) is a primary immunodeficiency (PID) characterized by persistent severe neutropenia, recurrent infections, and oral aphthous lesions. Severe congenital neutropenia is caused by various genetic defects such as ELANE, GFI, HAX-1, JAGN1, SRP54, and glucose-6 phosphatase catalytic subunit 3 (G6PC3) deficiency. Clinical features of the patients with G6PC3 deficiency vary from neutropenia to several systemic features in addition to developmental delay.

Case presentation

In this report, we presented three unrelated patients diagnosed with G6PC3 deficiency. All these patients had short stature, prominent and superficial vascular tissue, cardiac abnormalities (Atrial septal defect (secondary), mitral valve prolapse with mitral insufficiency, pulmonary hypertension) and lymphopenia. Patient 1 (P1) and 2 (P2) had urogenital abnormalities, P2 and P3 had thrombocytopenia.

Conclusions

We have shown that lymphopenia and CD4 lymphopenia do not rarely accompany to G6PC3 deficiency. Characteristic facial appearance, systemic manifestions, neutropenia could be the clues for the diagnosis of G6PC3 deficiency.

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The Journal of Pediatric Endocrinology and Metabolism (JPEM) is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups, and publishes the results of clinical investigations in pediatric endocrinology and basic research. JPEM publishes Review Articles, Original Research, Case Reports, Short Communications and Letters to the Editor.

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