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IMD73A
MCID: IMM223
MIFTS: 27
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Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis (IMD73A)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and...
MalaCards integrated aliases for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:
Characteristics:Orphanet epidemiological data:58
neutrophil immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation two unrelated patients have been reported (last curated august 2020) HPO:31
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
ICD10:
33
Orphanet: 58
Rare immunological diseases External Ids:
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OMIM® :
57
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). (608203) (Updated 05-Mar-2021)
MalaCards based summary : Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis, also known as neutrophil immunodeficiency syndrome, is related to immune deficiency disease and bacterial infectious disease. An important gene associated with Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis is RAC2 (Rac Family Small GTPase 2). Affiliated tissues include neutrophil, and related phenotypes are immunodeficiency and leukocytosis Disease Ontology : 12 A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has material basis in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1. UniProtKB/Swiss-Prot : 73 Neutrophil immunodeficiency syndrome: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing. |
Diseases related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:58 31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:608203 (Updated 05-Mar-2021) |
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Cochrane evidence based reviews: neutrophil immunodeficiency syndrome |
MalaCards organs/tissues related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:40
Neutrophil
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Articles related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:
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Genes related to Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:6 (show all 22)
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis:73
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Search
GEO
for disease gene expression data for Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis.
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