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GTR Home > Conditions/Phenotypes > Neutrophil immunodeficiency syndrome

Neutrophil immunodeficiency syndrome

Synonyms
Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

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]

Available tests

37 tests are in the database for this condition.

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Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EN-7, Gx, HSPC022, IMD73A, IMD73B, IMD73C, p21-Rac2, RAC2
    Summary: Rac family small GTPase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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