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specific granule deficiency 2 (SGD2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

specific granule deficiency 2

MONDO:0044208

Also known as:SGD2

Overview

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).

GeneticsAutosomal recessive · SMARCD2 (chr 17)

OnsetNEONATAL

ResearchLimited published research (3 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: Bone marrow maturation arrest, Intractable diarrhea, Delayed umbilical cord separation, and Absent neutrophil specific granules and others; and common findings: Brachydactyly, Nail dysplasia, Fragile nails, and Low red blood cell count (anemia) and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	5	Absent neutrophil specific granules, Low red blood cell count (anemia), Recurrent bacterial infections

Genetic Landscape

SMARCD2 function has not been fully characterized.

Specific granule deficiency 2 is associated with mutations in the SMARCD2 gene on chromosome 17.

Diagnosis

Genetic testing for SMARCD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features, 12 common 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 specific granule deficiency 2.

3 publications have been identified in PubMed for specific granule deficiency 2. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Tamaru T (2025). [PMID: 40581342](https://pubmed.ncbi.nlm.nih.gov/40581342/). *Clin Exp Immunol*. [Basic Science / Preclinical]
Katsaras G (2024). [PMID: 38921186](https://pubmed.ncbi.nlm.nih.gov/38921186/). *Hematol Rep*. [Review / Meta-Analysis]
Horsthemke B (2024). [PMID: 38854642](https://pubmed.ncbi.nlm.nih.gov/38854642/). *Med Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617475

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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specific granule deficiency 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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