Autosomal recessive severe congenital neutropenia

MedGen UID:: 1781858
•Concept ID:: C5447331
•: Disease or Syndrome

Synonyms:	Autosomal Recessive SCN; Autosomal Recessive Severe Congenital Neutropenia; autosomal recessive severe congenital neutropenia

Monarch Initiative:	MONDO:0028226
Orphanet:	ORPHA439849

Definition

Severe congenital neutropenia inherited in an autosomal recessive pattern. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Autosomal recessive severe congenital neutropenia

Hematopoietic and Lymphoid System Disorder
- Hematologic disorder
  - Non-Neoplastic Hematologic and Lymphocytic Disorder
    - Congenital hematological disorder
      - Congenital neutropenia
        Severe congenital neutropenia
        Autosomal recessive severe congenital neutropenia
        Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
        Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
        Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
        Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
        Congenital neutropenia-myelofibrosis-nephromegaly syndrome
        Kostmann syndrome

Professional guidelines

PubMed

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Parisi X, Bledsoe JR
J Clin Pathol 2024 Aug 16;77(9):586-604. doi: 10.1136/jcp-2022-208686. PMID: 38589208

Congenital neutropenia: disease models guiding new treatment strategies.

Touw IP
Curr Opin Hematol 2022 Jan 1;29(1):27-33. doi: 10.1097/MOH.0000000000000696. PMID: 34854832 Free PMC Article

Modern management of phagocyte defects.

Lanini LL, Prader S, Siler U, Reichenbach J
Pediatr Allergy Immunol 2017 Mar;28(2):124-134. Epub 2016 Oct 13 doi: 10.1111/pai.12654. PMID: 27612320

See all (12)

Recent clinical studies

Etiology

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

Schäffer AA, Klein C
Curr Opin Allergy Clin Immunol 2007 Dec;7(6):481-94. doi: 10.1097/ACI.0b013e3282f1d690. PMID: 17989524 Free PMC Article

Severe congenital neutropenia: new genes explain an old disease.

Bohn G, Welte K, Klein C
Curr Opin Rheumatol 2007 Nov;19(6):644-50. doi: 10.1097/BOR.0b013e3282f05cc2. PMID: 17917547

See all (2)

Diagnosis

Homozygous DBF4 mutation as a cause of severe congenital neutropenia.

Willemsen M, Barber JS, Nieuwenhove EV, Staels F, Gerbaux M, Neumann J, Prezzemolo T, Pasciuto E, Lagou V, Boeckx N, Filtjens J, De Visscher A, Matthys P, Schrijvers R, Tousseyn T, O'Driscoll M, Bucciol G, Schlenner S, Meyts I, Humblet-Baron S, Liston A
J Allergy Clin Immunol 2023 Jul;152(1):266-277. Epub 2023 Feb 24 doi: 10.1016/j.jaci.2023.02.016. PMID: 36841265

Severe congenital neutropenia: new genes explain an old disease.

Bohn G, Welte K, Klein C
Curr Opin Rheumatol 2007 Nov;19(6):644-50. doi: 10.1097/BOR.0b013e3282f05cc2. PMID: 17917547

See all (2)

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Autosomal recessive severe congenital neutropenia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

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