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neutropenia, severe congenital, 10, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neutropenia, severe congenital, 10, autosomal recessive

MONDO:0957809

Overview

GeneticsAutosomal recessive · SRP68 (chr 17)

OnsetINFANTILE

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Anorectal abscess, Increased total monocyte count, Bone marrow arrest at the promyelocytic stage, and Low red blood cell count (anemia) and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Low red blood cell count (anemia), Low platelet count (thrombocytopenia), Decreased total neutrophil count

Genetic Landscape

SRP68 function has not been fully characterized.

Neutropenia, severe congenital, 10, autosomal recessive is associated with mutations in the SRP68 gene on chromosome 17.

Diagnosis

Genetic testing for SRP68 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neutropenia, severe congenital, 10, autosomal recessive.

8 publications have been identified in PubMed for neutropenia, severe congenital, 10, autosomal recessive. Research spans Basic Science / Preclinical (38%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Xiangwen W (2026). [PMID: 41472573](https://pubmed.ncbi.nlm.nih.gov/41472573/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Pantea CL (2026). [PMID: 41751872](https://pubmed.ncbi.nlm.nih.gov/41751872/). *Int J Mol Sci*. [Basic Science / Preclinical]
van Bergen T (2026). [PMID: 41056520](https://pubmed.ncbi.nlm.nih.gov/41056520/). *Blood Adv*. [Basic Science / Preclinical]
Chen X (2025). [PMID: 40650809](https://pubmed.ncbi.nlm.nih.gov/40650809/). *J Clin Immunol*. [Review / Meta-Analysis]
Kızılay DÖ (2025). [PMID: 39980410](https://pubmed.ncbi.nlm.nih.gov/39980410/). *Pediatr Blood Cancer*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620534

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neutropenia, severe congenital, 10, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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