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Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency(SCN6)

MedGen UID:
863391
Concept ID:
C4014954
Disease or Syndrome
Synonym: Severe congenital neutropenia 6, autosomal recessive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): JAGN1 (3p25.3)
 
Monarch Initiative: MONDO:0014456
OMIM®: 616022
Orphanet: ORPHA423384

Definition

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated. [from ORDO]

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).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Bone marrow maturation arrest
MedGen UID:
549798
Concept ID:
C0302173
Cell or Molecular Dysfunction
Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.

Professional guidelines

PubMed

Parisi X, Bledsoe JR
J Clin Pathol 2024 Aug 16;77(9):586-604. doi: 10.1136/jcp-2022-208686. PMID: 38589208
Arunachalam AK, Suresh H, Edison ES, Korula A, Aboobacker FN, George B, Shaji RV, Mathews V, Balasubramanian P
J Clin Pathol 2020 Jun;73(6):322-327. Epub 2019 Nov 15 doi: 10.1136/jclinpath-2019-206306. PMID: 31732620

Recent clinical studies

Etiology

Parisi X, Bledsoe JR
J Clin Pathol 2024 Aug 16;77(9):586-604. doi: 10.1136/jcp-2022-208686. PMID: 38589208
Arunachalam AK, Suresh H, Edison ES, Korula A, Aboobacker FN, George B, Shaji RV, Mathews V, Balasubramanian P
J Clin Pathol 2020 Jun;73(6):322-327. Epub 2019 Nov 15 doi: 10.1136/jclinpath-2019-206306. PMID: 31732620

Diagnosis

Parisi X, Bledsoe JR
J Clin Pathol 2024 Aug 16;77(9):586-604. doi: 10.1136/jcp-2022-208686. PMID: 38589208
Cetinkaya PG, Cagdas D, Arikoglu T, Gumruk F, Tezcan I
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):957-961. doi: 10.1515/jpem-2019-0541. PMID: 32623377
Arunachalam AK, Suresh H, Edison ES, Korula A, Aboobacker FN, George B, Shaji RV, Mathews V, Balasubramanian P
J Clin Pathol 2020 Jun;73(6):322-327. Epub 2019 Nov 15 doi: 10.1136/jclinpath-2019-206306. PMID: 31732620
Baris S, Karakoc-Aydiner E, Ozen A, Delil K, Kiykim A, Ogulur I, Baris I, Barlan IB
J Clin Immunol 2015 May;35(4):339-43. Epub 2015 Apr 8 doi: 10.1007/s10875-015-0156-2. PMID: 25851723

Therapy

Farmand S, Aydin SE, Wustrau K, Böhm S, Ayuk F, Escherich G, Skokowa J, Müller I, Lehmberg K
Front Immunol 2024;15:1373495. Epub 2024 Sep 2 doi: 10.3389/fimmu.2024.1373495. PMID: 39286252Free PMC Article

Clinical prediction guides

Farmand S, Aydin SE, Wustrau K, Böhm S, Ayuk F, Escherich G, Skokowa J, Müller I, Lehmberg K
Front Immunol 2024;15:1373495. Epub 2024 Sep 2 doi: 10.3389/fimmu.2024.1373495. PMID: 39286252Free PMC Article
Khandagale A, Lazzaretto B, Carlsson G, Sundin M, Shafeeq S, Römling U, Fadeel B
J Leukoc Biol 2018 Dec;104(6):1199-1213. Epub 2018 Aug 14 doi: 10.1002/JLB.4A0118-030RR. PMID: 30106500

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