AIEFL
MCID: ATN023
MIFTS: 13

Autoinflammation with Episodic Fever and Lymphadenopathy (AIEFL)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Autoinflammation with Episodic Fever and Lymphadenopathy

MalaCards integrated aliases for Autoinflammation with Episodic Fever and Lymphadenopathy:

Name: Autoinflammation with Episodic Fever and Lymphadenopathy 56 6
Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome 56
Cria Syndrome 56
Aiefl 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)
onset in early infancy
patients may respond to treatment with an il6 receptor inhibitor


Classifications:



External Ids:

OMIM 56 618852

Summaries for Autoinflammation with Episodic Fever and Lymphadenopathy

OMIM : 56 Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Rash and genital ulcers are not observed. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 (147620) and TNF (191160), consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R (147880) antibodies may result in clinical improvement (summary by Lalaoui et al., 2020). (618852)

MalaCards based summary : Autoinflammation with Episodic Fever and Lymphadenopathy, is also known as cleavage-resistant ripk1-induced autoinflammatory syndrome. An important gene associated with Autoinflammation with Episodic Fever and Lymphadenopathy is RIPK1 (Receptor Interacting Serine/Threonine Kinase 1).

Related Diseases for Autoinflammation with Episodic Fever and Lymphadenopathy

Symptoms & Phenotypes for Autoinflammation with Episodic Fever and Lymphadenopathy

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
hyperinflammatory state

Metabolic Features:
fever, episodic, recurrent

Skin Nails Hair Skin:
no rash

Abdomen Liver:
hepatomegaly

Hematology:
microcytic anemia (in some patients)

Head And Neck Mouth:
oral ulcers (in some patients)

Laboratory Abnormalities:
increased serum levels of il6, il8, tnf, and gamma-interferon

Clinical features from OMIM:

618852

Drugs & Therapeutics for Autoinflammation with Episodic Fever and Lymphadenopathy

Search Clinical Trials , NIH Clinical Center for Autoinflammation with Episodic Fever and Lymphadenopathy

Genetic Tests for Autoinflammation with Episodic Fever and Lymphadenopathy

Anatomical Context for Autoinflammation with Episodic Fever and Lymphadenopathy

Publications for Autoinflammation with Episodic Fever and Lymphadenopathy

Articles related to Autoinflammation with Episodic Fever and Lymphadenopathy:

# Title Authors PMID Year
1
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. 61 6 56
31827281 2020
2
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. 56 6
31827280 2020

Variations for Autoinflammation with Episodic Fever and Lymphadenopathy

ClinVar genetic disease variations for Autoinflammation with Episodic Fever and Lymphadenopathy:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RIPK1 NM_001354930.2(RIPK1):c.970G>A (p.Asp324Asn)SNV Pathogenic 870218 6:3104513-3104513 6:3104279-3104279
2 RIPK1 NM_001354930.2(RIPK1):c.970G>C (p.Asp324His)SNV Pathogenic 870219 6:3104513-3104513 6:3104279-3104279
3 RIPK1 RIPK1, ASP324TYRundetermined variant Pathogenic 870220
4 RIPK1 NM_001354930.2(RIPK1):c.971A>T (p.Asp324Val)SNV Pathogenic 870221 6:3104514-3104514 6:3104280-3104280

Expression for Autoinflammation with Episodic Fever and Lymphadenopathy

Search GEO for disease gene expression data for Autoinflammation with Episodic Fever and Lymphadenopathy.

Pathways for Autoinflammation with Episodic Fever and Lymphadenopathy

GO Terms for Autoinflammation with Episodic Fever and Lymphadenopathy

Sources for Autoinflammation with Episodic Fever and Lymphadenopathy

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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28 GO
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30 HMDB
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32 ICD10
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48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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