Immunodeficiency 64 with lymphoproliferation

Preferred Label : Immunodeficiency 64 with lymphoproliferation;

Symbol : IMD64;

CISMeF acronym : IMD64;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RAS guanyl nucleotide-releasing protein 1 gene (RASGRP1, 603962.0001);

Neoplasia : Leiomyoma of the adrenal gland (2 unrelated patients); Lymphoma, EBV-associated; EBV-positive lymphoproliferative disease;

Prefixed ID : #618534;

Details

Origin ID

618534;

UMLS CUI

C5231402;

Currated CISMeF NLP mapping
- immunodeficiency 64 [DO Concept]
DO Cross reference
- immunodeficiency 64 [DO Concept]
Genes related to phenotype
- Ras guanyl nucleotide-releasing protein 1 [OMIM gene]
HPO term(s)
- Abnormal CD4:CD8 ratio [HPO term]
- Anti-thyroglobulin antibody positivity [HPO term]
- Anti-thyroid peroxidase antibody positivity [HPO term]
- Antinuclear antibody positivity [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B-cell lymphoma [HPO term]
- Bronchiectasis [HPO term]
- Cervical lymphadenopathy [HPO term]
- Clubbing of fingers [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased lymphocyte proliferation in response to mitogen [HPO term]
- Decreased proportion of CD4-positive T cells [HPO term]
- Defective T cell proliferation [HPO term]
- Failure to thrive [HPO term]
- Hepatosplenomegaly [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgG level [HPO term]
- Increased circulating IgM level [HPO term]
- Increased proportion autoreactive unresponsive CD21-/low B cells [HPO term]
- Lymphadenopathy [HPO term]
- Mediastinal lymphadenopathy [HPO term]
- Recurrent infections [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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