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Neutropenia, severe congenital, 8, autosomal dominant(SDSL; SCN8)

MedGen UID:
1684816
Concept ID:
C5203411
Disease or Syndrome
Synonyms: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT, WITH OR WITHOUT PANCREATIC DYSFUNCTION AND/OR NEUROLOGIC ABNORMALITIES; SHWACHMAN-DIAMOND SYNDROME-LIKE
 
Gene (location): SRP54 (14q13.2)
 
Monarch Initiative: MONDO:0032899
OMIM®: 618752

Definition

Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; 138970) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, 260400), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by Carapito et al., 2017 and Bellanne-Chantelot et al., 2018). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). [from OMIM]

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Exocrine pancreatic insufficiency
MedGen UID:
75647
Concept ID:
C0267963
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Bone marrow arrest at the promyelocytic stage
MedGen UID:
1781449
Concept ID:
C5539718
Cell or Molecular Dysfunction
A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Abnormal circulating immunoglobulin concentration
MedGen UID:
340953
Concept ID:
C1855755
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Elevated circulating hepatic transaminase concentration
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Recent clinical studies

Therapy

Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, Dupuy A, Kerob D, Beaupain B, Bordigoni P, Fouyssac F, Delezoide AL, Devouassoux G, Nicolas JF, Bensaid P, Bertrand Y, Balabanian K, Chantelot CB, Bachelerie F, Donadieu J
Orphanet J Rare Dis 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71. PMID: 23009155Free PMC Article

Prognosis

Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, Dupuy A, Kerob D, Beaupain B, Bordigoni P, Fouyssac F, Delezoide AL, Devouassoux G, Nicolas JF, Bensaid P, Bertrand Y, Balabanian K, Chantelot CB, Bachelerie F, Donadieu J
Orphanet J Rare Dis 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71. PMID: 23009155Free PMC Article
Ancliff PJ, Gale RE, Linch DC
Hematology 2003 Jun;8(3):165-71. doi: 10.1080/1024533031000107497. PMID: 12745650

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