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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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Specific granule deficiency (234431006); SGD - Specific granule deficiency (234431006); Neutrophil lactoferrin deficiency (234587000)
 
Gene: CEBPE
Cytogenetic location: 14q11.2
OMIM: 245480

Clinical features

Hyposegmentation of neutrophil nuclei
MedGen UID:
506573
Concept ID:
CN167175
Finding
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Abnormal neutrophil cell number
MedGen UID:
489552
Concept ID:
CN167717
Finding
A deviation from the normal range of neutrophil cell counts in the circulation.
Absent neutrophil specific granules
MedGen UID:
775817
Concept ID:
CN182941
Finding
Lack of specific granules in neutrophils.
Hyposegmentation of neutrophil nuclei
MedGen UID:
506573
Concept ID:
CN167175
Finding
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Abnormal neutrophil cell number
MedGen UID:
489552
Concept ID:
CN167717
Finding
A deviation from the normal range of neutrophil cell counts in the circulation.
Absent neutrophil specific granules
MedGen UID:
775817
Concept ID:
CN182941
Finding
Lack of specific granules in neutrophils.

Recent clinical studies

Etiology

Lomax KJ, Malech HL, Gallin JI
Blood Rev 1989 Jun;3(2):94-104. PMID: 2673450

Diagnosis

Dinauer MC
Methods Mol Biol 2007;412:489-504. doi: 10.1007/978-1-59745-467-4_30. PMID: 18453130
Lennartsson A, Vidovic K, Pass MB, Cowland JB, Gullberg U
J Leukoc Biol 2006 Jul;80(1):196-203. Epub 2006 May 9 doi: 10.1189/jlb.1205759. [Epub ahead of print] PMID: 16684888
Matzner Y
Transfus Med Rev 1987 Dec;1(3):171-81. PMID: 2980276
Balazovich KJ, Smolen JE, Boxer LA
J Immunol 1986 Sep 1;137(5):1665-73. PMID: 3462245

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

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

Pass MB, Borregaard N, Cowland JB
Leuk Res 2007 Jun;31(6):827-37. Epub 2006 Aug 30 doi: 10.1016/j.leukres.2006.07.019. [Epub ahead of print] PMID: 16942795
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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