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Specific granule deficiency(SGD)

MedGen UID:
140766
Concept ID:
C0398593
Disease or Syndrome
Synonyms: LACTOFERRIN-DEFICIENT NEUTROPHILS; NEUTROPHIL LACTOFERRIN DEFICIENCY; SGD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Specific granule deficiency (234431006); SGD - Specific granule deficiency (234431006); Neutrophil lactoferrin deficiency (234587000)
 
Gene (location): CEBPE (14q11.2)
OMIM®: 245480
Orphanet: ORPHA169142

Clinical features

Pelger-Huët anomaly
MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Absent neutrophil specific granules
MedGen UID:
868458
Concept ID:
C4022852
Finding
Lack of specific granules in neutrophils.
Abnormal neutrophil cell number
MedGen UID:
868689
Concept ID:
C4023092
Anatomical Abnormality
A deviation from the normal range of neutrophil cell counts in the circulation.
Pelger-Huët anomaly
MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection.
Absent neutrophil specific granules
MedGen UID:
868458
Concept ID:
C4022852
Finding
Lack of specific granules in neutrophils.
Abnormal neutrophil cell number
MedGen UID:
868689
Concept ID:
C4023092
Anatomical Abnormality
A deviation from the normal range of neutrophil cell counts in the circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpecific granule deficiency
Follow this link to review classifications for Specific granule deficiency in Orphanet.

Recent clinical studies

Etiology

Ye Y, Carlsson G, Karlsson-Sjöberg JM, Borregaard N, Modéer TU, Andersson ML, Pütsep KL
Sci Rep 2015 Jun 29;5:11685. doi: 10.1038/srep11685. PMID: 26119962Free PMC Article
Skoczylas MM, Walat A, Kordek A, Loniewska B, Rudnicki J, Maleszka R, Torbé A
Ann Parasitol 2014;60(3):179-89. PMID: 25281815
Lomax KJ, Malech HL, Gallin JI
Blood Rev 1989 Jun;3(2):94-104. PMID: 2673450

Diagnosis

Ye Y, Carlsson G, Karlsson-Sjöberg JM, Borregaard N, Modéer TU, Andersson ML, Pütsep KL
Sci Rep 2015 Jun 29;5:11685. doi: 10.1038/srep11685. PMID: 26119962Free PMC Article
Skoczylas MM, Walat A, Kordek A, Loniewska B, Rudnicki J, Maleszka R, Torbé A
Ann Parasitol 2014;60(3):179-89. PMID: 25281815
Shigemura T, Yamazaki T, Shiohara M, Kobayashi N, Naganuma K, Koike K, Agematsu K
J Clin Immunol 2014 Oct;34(7):780-3. Epub 2014 Aug 1 doi: 10.1007/s10875-014-0082-8. [Epub ahead of print] PMID: 25081842
Dinauer MC
Methods Mol Biol 2014;1124:501-15. doi: 10.1007/978-1-62703-845-4_30. PMID: 24504971
Dinauer MC
Methods Mol Biol 2007;412:489-504. doi: 10.1007/978-1-59745-467-4_30. PMID: 18453130

Therapy

Tanaka M, Gombart AF, Koeffler HP, Shiohara M
Int J Hematol 2007 May;85(4):304-11. doi: 10.1532/IJH97.05162. PMID: 17483073

Prognosis

Skoczylas MM, Walat A, Kordek A, Loniewska B, Rudnicki J, Maleszka R, Torbé A
Ann Parasitol 2014;60(3):179-89. PMID: 25281815
Shigemura T, Yamazaki T, Shiohara M, Kobayashi N, Naganuma K, Koike K, Agematsu K
J Clin Immunol 2014 Oct;34(7):780-3. Epub 2014 Aug 1 doi: 10.1007/s10875-014-0082-8. [Epub ahead of print] PMID: 25081842
Gombart AF, Shiohara M, Kwok SH, Agematsu K, Komiyama A, Koeffler HP
Blood 2001 May 1;97(9):2561-7. PMID: 11313242
Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI
J Exp Med 1999 Jun 7;189(11):1847-52. PMID: 10359588Free PMC Article

Clinical prediction guides

Skoczylas MM, Walat A, Kordek A, Loniewska B, Rudnicki J, Maleszka R, Torbé A
Ann Parasitol 2014;60(3):179-89. PMID: 25281815
Shiohara M, Gombart AF, Sekiguchi Y, Hidaka E, Ito S, Yamazaki T, Koeffler HP, Komiyama A
J Leukoc Biol 2004 Feb;75(2):190-7. Epub 2003 Oct 23 doi: 10.1189/jlb.0203063. [Epub ahead of print] PMID: 14576362
Gombart AF, Shiohara M, Kwok SH, Agematsu K, Komiyama A, Koeffler HP
Blood 2001 May 1;97(9):2561-7. PMID: 11313242
Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI
J Exp Med 1999 Jun 7;189(11):1847-52. PMID: 10359588Free PMC Article
Sakura T, Murakami H, Matsushima T, Tamura J, Sawamura M, Tsuchiya J
Am J Hematol 1993 Jun;43(2):149-50. PMID: 8342544

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