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Neutrophil immunodeficiency syndrome(IMD73A)

MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
Synonym: Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis
SNOMED CT: Neutrophil immunodeficiency syndrome (723443003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): RAC2 (22q13.1)
 
Monarch Initiative: MONDO:0011988
OMIM®: 608203
Orphanet: ORPHA183707

Definition

Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by Accetta et al., 2011; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity. [from OMIM]

Clinical features

From HPO
Urachal cyst
MedGen UID:
21770
Concept ID:
C0041915
Finding
A cyst located along the allantois canal.
Macrocytic anemia
MedGen UID:
1920
Concept ID:
C0002886
Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Rectal abscess
MedGen UID:
57700
Concept ID:
C0149770
Pathologic Function
A collection of pus in the area of the rectum.
Neutrophilia
MedGen UID:
57729
Concept ID:
C0151683
Finding
Increased number of neutrophils circulating in blood.
Reduction of neutrophil motility
MedGen UID:
870745
Concept ID:
C4025201
Finding
An abnormal reduction of the cell motility of neutrophils.
Impaired neutrophil chemotaxis
MedGen UID:
895851
Concept ID:
C4280709
Cell or Molecular Dysfunction
An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response
Impaired oxidative burst
MedGen UID:
898272
Concept ID:
C4280805
Laboratory or Test Result
In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
Abnormally low T cell receptor excision circle level
MedGen UID:
1611921
Concept ID:
C4531052
Finding
Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.
Poor wound healing
MedGen UID:
377525
Concept ID:
C1851789
Finding
A reduced ability to heal cutaneous wounds.
Neonatal omphalitis
MedGen UID:
510678
Concept ID:
C0158947
Disease or Syndrome
An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.
Delayed umbilical cord separation
MedGen UID:
226769
Concept ID:
C1260438
Pathologic Function
Separation of the umbilical cord occurs at an abnormally late timepoint.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeutrophil immunodeficiency syndrome
Follow this link to review classifications for Neutrophil immunodeficiency syndrome in Orphanet.

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