Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

Preferred Label : Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia;

Symbol : IMD73B;

CISMeF acronym : IMD73B;

Type : Phenotype, molecular basis known;

Prefixed ID : #618986;

Details

Origin ID

618986;

UMLS CUI

C5436549;

Automatic exact mappings (from CISMeF team)
- RAC2 wt Allele [NCIt concept]
DO Cross reference
- immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia [DO Concept]
Genes related to phenotype
- Ras-related c3 botulinum toxin substrate 2 [OMIM gene]
HPO term(s)
- Abnormally low T cell receptor excision circle level [HPO term]
- Autosomal dominant inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Cellulitis [HPO term]
- Chronic bronchitis [HPO term]
- Chronic pulmonary obstruction [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased lymphocyte proliferation in response to anti-CD3 [HPO term]
- Generalized lymphadenopathy [HPO term]
- Hepatosplenomegaly [HPO term]
- Impaired neutrophil chemotaxis [HPO term]
- Leukopenia [HPO term]
- Lymphadenitis [HPO term]
- Lymphopenia [HPO term]
- Monocytopenia [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine [HPO term]
- Pulmonary fibrosis [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Sepsis [HPO term]
- Severe varicella zoster infection [HPO term]
- T lymphocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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