U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Specific granule deficiency 1(SGD1)

MedGen UID:
1644049
Concept ID:
C4551556
Disease or Syndrome
Synonyms: LACTOFERRIN-DEFICIENT NEUTROPHILS; NEUTROPHIL LACTOFERRIN DEFICIENCY; SGD1
 
Gene (location): CEBPE (14q11.2)
 
Monarch Initiative: MONDO:0044207
OMIM®: 245480

Definition

Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. [from MONDO]

Clinical features

From HPO
Neutrophil nuclear clefts
MedGen UID:
1705120
Concept ID:
C5209289
Finding
An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Absent neutrophil specific granules
MedGen UID:
868458
Concept ID:
C4022852
Finding
Lack of specific granules in neutrophils.
Impaired neutrophil bactericidal activity
MedGen UID:
868687
Concept ID:
C4023090
Finding
A reduction in the ability of neutrophils to kill bacteria.
Hyposegmentation of neutrophil nuclei
MedGen UID:
892291
Concept ID:
C4023351
Cell or Molecular Dysfunction
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Absent neutrophil lactoferrin
MedGen UID:
1702815
Concept ID:
C5209288
Laboratory or Test Result
The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.
Increased neutrophil mitochondria
MedGen UID:
1696832
Concept ID:
C5209291
Finding
An increased number of mitochondria detected in neutrophils.
Increased neutrophil ribosomes
MedGen UID:
1701365
Concept ID:
C5209292
Finding
An increased number of ribosomes detected in neutrophils.
Low neutrophil alkaline phosphatase
MedGen UID:
1685638
Concept ID:
C5209290
Finding
An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.

Professional guidelines

PubMed

Uzel G, Holland SM
Curr Allergy Asthma Rep 2002 Sep;2(5):385-91. doi: 10.1007/s11882-002-0071-5. PMID: 12165204

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

Diagnosis

Kihtir Z, Çelik K, Tayfun Küpesiz F, Küpesiz OA, Kocacik Uygun DF, Arayici S, Ongun H, Acarbulut İ, Sağlam C, Ceylaner G, Bingöl A
Pediatr Allergy Immunol Pulmonol 2022 Mar;35(1):43-46. doi: 10.1089/ped.2021.0070. PMID: 35320004
Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S
J Clin Immunol 2021 Jan;41(1):59-65. Epub 2020 Oct 6 doi: 10.1007/s10875-020-00878-4. PMID: 33025377
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
Matzner Y
Transfus Med Rev 1987 Dec;1(3):171-81. doi: 10.1016/s0887-7963(87)70019-4. PMID: 2980276
Balazovich KJ, Smolen JE, Boxer LA
J Immunol 1986 Sep 1;137(5):1665-73. PMID: 3462245

Therapy

Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S
J Clin Immunol 2021 Jan;41(1):59-65. Epub 2020 Oct 6 doi: 10.1007/s10875-020-00878-4. PMID: 33025377

Prognosis

Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S
J Clin Immunol 2021 Jan;41(1):59-65. Epub 2020 Oct 6 doi: 10.1007/s10875-020-00878-4. PMID: 33025377

Clinical prediction guides

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. PMID: 14576362

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...