A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear

Cihan, Meriç Kaymak; Bolat, Fatih; Önay, Hüseyin; Sarı, Ahmet; Korğalı, Elif Ünver; Aslan, Şükran; Cura, Ceylan; Içağasioğlu, Dilara

doi:10.1097/mph.0000000000000504

Cited by 3 publications

(2 citation statements)

References 18 publications

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“…Apart from neutropenia, intermittent thrombocytopenia is often observed in nearly two-thirds of the patients. Furthermore, lymphopenia and scarce giant platelets are among the other features detectable in the CBC of severe cases [ 3 , 9 – 12 ]. Bone marrow examination of such patients may reveal maturation arrest in the myeloid lineage; however, some of the G6PC3 deficient patients have hyper- or normo-cellular bone marrow [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…Our patient had severe intermittent thrombocytopenia in addition to giant platelets and a high mean platelet volume (MPV) in his peripheral blood smear. To our knowledge, to date, only three other cases have been reported [ 3 , 27 ] with giant platelets. We should mention here that it is not completely clear whether thrombocytopenia and giant platelets are due to the gene defect or a secondary phenomenon of the ongoing recurrent infections.…”

Section: Discussionmentioning

confidence: 99%

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Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

Moradian

Zoghi

Rayzan

et al. 2023

Allergy Asthma Clin Immunol

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Background Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies. Case presentation We report a male patient with confirmed G6PC3 deficiency presented with recurrent bacterial infections and multi-systemic complications. Our case was the first with a novel homozygous frameshift mutation in G6PC3. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease. Conclusion As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

Moradian

Zoghi

Rayzan

et al. 2023

Allergy Asthma Clin Immunol

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CDG and immune response: From bedside to bench and back

Pascoal

Francisco

Ferro

et al. 2019

J of Inher Metab Disea

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Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating in physiological processes such as immunity. The immune response is driven and modulated by protein‐attached glycans that mediate cell‐cell interactions, pathogen recognition and cell activation. Therefore, abnormal glycosylation can be associated with deranged immune responses. Within human diseases presenting immunological defects are congenital disorders of glycosylation (CDG), a family of around 130 rare and complex genetic diseases. In this review, we have identified 23 CDG with immunological involvement, characterized by an increased propensity to—often life‐threatening—infection. Inflammatory and autoimmune complications were found in 7 CDG types. CDG natural history(ies) and the mechanisms behind the immunological anomalies are still poorly understood. However, in some cases, alterations in pathogen recognition and intracellular signaling (eg, TGF‐β1, NFAT, and NF‐κB) have been suggested. Targeted therapies to restore immune defects are only available for PGM3‐CDG and SLC35C1‐CDG. Fostering research on glycoimmunology may elucidate the involved pathophysiological mechanisms and open new therapeutic avenues, thus improving CDG patients' quality of life.

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Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses

Parisi,

Bledsoe

2024

J Clin Pathol

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The congenital neutropenia syndromes are rare haematological conditions defined by impaired myeloid precursor differentiation or function. Patients are prone to severe infections with high mortality rates in early life. While some patients benefit from granulocyte colony-stimulating factor treatment, they may still face an increased risk of bone marrow failure, myelodysplastic syndrome and acute leukaemia. Accurate diagnosis is crucial for improved outcomes; however, diagnosis depends on familiarity with a heterogeneous group of rare disorders that remain incompletely characterised. The clinical and pathological overlap between reactive conditions, primary and congenital neutropenias, bone marrow failure, and myelodysplastic syndromes further clouds diagnostic clarity.We review the diagnostically useful clinicopathological and morphological features of reactive causes of neutropenia and the most common primary neutropenia disorders: constitutional/benign ethnic neutropenia, chronic idiopathic neutropenia, cyclic neutropenia, severe congenital neutropenia (due to mutations inELANE,GFI1,HAX1,G6PC3,VPS45,JAGN1,CSF3R,SRP54,CLPBandWAS), GATA2 deficiency, Warts, hypogammaglobulinaemia, infections and myelokathexis syndrome, Shwachman-Diamond Syndrome, the lysosomal storage disorders with neutropenia: Chediak-Higashi, Hermansky-Pudlak, and Griscelli syndromes, Cohen, and Barth syndromes. We also detail characteristic cytogenetic and molecular factors at diagnosis and in progression to myelodysplastic syndrome/leukaemia.

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A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear

Cited by 3 publications

References 18 publications

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

CDG and immune response: From bedside to bench and back

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses

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