Details of Disease

General Information of Disease (ID: DIS4H1XW)

• Disease Name: Specific granule deficiency 2
• Synonyms: SGD2; specific granule deficiency 2
• Definition: 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).
• Disease Hierarchy:
  DISXJ6Y2: Specific granule deficiency
  DIS4H1XW: Specific granule deficiency 2
• Disease Identifiers:
  MONDO ID: MONDO_0044208
  UMLS CUI: C4479548
  OMIM ID: 617475
  MedGen ID: 1371952

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEBPE	OTKZA25M	Strong	GermlineCausalMutation	[1]
SMARCD2	OTQTBWHW	Strong	Autosomal recessive	[2]

References

• [1] Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon. J Exp Med. 1999 Jun 7;189(11):1847-52. doi: 10.1084/jem.189.11.1847.
• [2] Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet. 2017 May;49(5):742-752. doi: 10.1038/ng.3833. Epub 2017 Apr 3.