Name: Severe congenital neutropenia 11 | Acronym: SCN11
Alt. names: Congenital neutropenia, severe, 11

Gene: SEC61A1 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency

No. of cases in DB: 1 | First reported in: 2020

Last updated on: 2023-05-26 09:37:54 by Xiao P. Peng

OMIM: 620674

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Thus far, one patient has been reported with a heterozygous SEC61A1 mutation leading to severe congenital neutropenia without hypogammaglobulinemia or nephropathy (PMID: 32325141) - a 19-year-old European female diagnosed with SCN at age 2 years old with a history of recurrent sinopulmonary, GI and skin infections, as well as oral ulcers, defective wound healing, gingivitis, and an episode of limited verrucae plantaris. Immunophenotyping prior to initiation of daily G-CSF was also notable for hypergammaglobulinemia, mild thrombocytopenia, and discrete intermittent anemia. Bone marrow analysis before G-CSF treatment showed granulopoietic maturation arrest at the promyelocyte and myelocyte level, thought to be a consequence of dysregulated unfolded protein response, increased susceptibility to ER stress and greater tendency to apoptosis.

Interestingly, although the patient was clinically responsive to G-CSF, her circulating neutrophils remained immature with evidence of nuclear hypo-segmentation.