U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autoinflammation with episodic fever and immune dysregulation(AIFID)

MedGen UID:
1856440
Concept ID:
C5935613
Disease or Syndrome
Synonyms: AIFID; AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION
 
Monarch Initiative: MONDO:0968982
OMIM®: 620795

Definition

Autoinflammation with episodic fever and immune dysregulation (AIFID) is an autosomal recessive disorder characterized by recurrent fever and autoinflammation affecting various organ systems. The onset of symptoms is in infancy or early childhood. Clinical features are highly variable and may include lymphadenopathy, inflammation of the joints, gastrointestinal inflammation, and parotitis. Laboratory studies show leukocytosis, often with neutrophilia, and inflammatory markers (C-reactive protein, 123260; erythrocyte sedimentation rate (ESR)), but immunoglobulins and other immune cells are essentially normal, and autoantibodies are not present. The features are consistent with immune dysregulation; some patients may have symptoms of mild immunodeficiency, such as chronic otitis media. Treatment with TNF (191160) inhibitors may result in significant clinical improvement (Oda et al., 2024). [from OMIM]

Clinical features

From HPO
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Increased hepatic glycogen content
MedGen UID:
344698
Concept ID:
C1856285
Finding
An increase in the amount of glycogen stored in hepatocytes compared to normal.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Chronic otitis media
MedGen UID:
75751
Concept ID:
C0271441
Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargement (swelling) of a lymph node.
Autoimmune antibody positivity
MedGen UID:
868268
Concept ID:
C4022660
Finding
The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
Complete or near-complete absence of specific antibody response to tetanus vaccine
MedGen UID:
1687415
Concept ID:
C5139458
Finding
The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Parotitis
MedGen UID:
45335
Concept ID:
C0030583
Disease or Syndrome
Inflammation of the parotid gland.

Professional guidelines

PubMed

Broderick L
Immunol Allergy Clin North Am 2019 Feb;39(1):13-29. Epub 2018 Nov 1 doi: 10.1016/j.iac.2018.08.004. PMID: 30466770

Recent clinical studies

Etiology

Wouters F, van der Hilst J, Bogie J
J Allergy Clin Immunol 2024 Jan;153(1):1-11. Epub 2023 Oct 21 doi: 10.1016/j.jaci.2023.10.008. PMID: 37871669
Steiner A, Reygaerts T, Pontillo A, Ceccherini I, Moecking J, Moghaddas F, Davidson S, Caroli F, Grossi A, Castro FFM, Kalil J, Gohr FN, Schmidt FI, Bartok E, Zillinger T, Hartmann G, Geyer M, Gattorno M, Mendonça LO, Masters SL
J Clin Immunol 2022 Feb;42(2):325-335. Epub 2021 Nov 16 doi: 10.1007/s10875-021-01175-4. PMID: 34783940Free PMC Article
Savic S, Caseley EA, McDermott MF
Nat Rev Rheumatol 2020 Apr;16(4):222-237. Epub 2020 Feb 27 doi: 10.1038/s41584-020-0377-5. PMID: 32107482
van der Meer JW, Simon A
Rheumatology (Oxford) 2016 Dec;55(suppl 2):ii23-ii29. doi: 10.1093/rheumatology/kew351. PMID: 27856657

Diagnosis

Wouters F, van der Hilst J, Bogie J
J Allergy Clin Immunol 2024 Jan;153(1):1-11. Epub 2023 Oct 21 doi: 10.1016/j.jaci.2023.10.008. PMID: 37871669
Steiner A, Reygaerts T, Pontillo A, Ceccherini I, Moecking J, Moghaddas F, Davidson S, Caroli F, Grossi A, Castro FFM, Kalil J, Gohr FN, Schmidt FI, Bartok E, Zillinger T, Hartmann G, Geyer M, Gattorno M, Mendonça LO, Masters SL
J Clin Immunol 2022 Feb;42(2):325-335. Epub 2021 Nov 16 doi: 10.1007/s10875-021-01175-4. PMID: 34783940Free PMC Article
Khabbazi A, Rahbar Kafshboran H, Nasiri Aghdam M, Nouri Nojadeh J, Daghagh H, Daneshmandpour Y, Kazemzadeh M, Hamzeiy H, Sakhinia E
Immunol Lett 2020 May;221:27-32. Epub 2020 Feb 1 doi: 10.1016/j.imlet.2020.01.008. PMID: 32014489
Broderick L
Immunol Allergy Clin North Am 2019 Feb;39(1):13-29. Epub 2018 Nov 1 doi: 10.1016/j.iac.2018.08.004. PMID: 30466770

Therapy

van der Meer JW, Simon A
Rheumatology (Oxford) 2016 Dec;55(suppl 2):ii23-ii29. doi: 10.1093/rheumatology/kew351. PMID: 27856657

Clinical prediction guides

Contassot E, Beer HD, French LE
Swiss Med Wkly 2012;142:w13590. Epub 2012 May 31 doi: 10.4414/smw.2012.13590. PMID: 22653747

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...