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Vasculitis due to ADA2 deficiency(VAIHS)

MedGen UID:
854497
Concept ID:
C3887654
Disease or Syndrome
Synonyms: Polyarteritis nodosa, childhoood-onset; VAIHS; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ADA2 (22q11.1)
 
Monarch Initiative: MONDO:0014306
OMIM®: 615688
Orphanet: ORPHA404553

Disease characteristics

Excerpted from the GeneReview: Adenosine Deaminase 2 Deficiency
Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2. [from GeneReviews]
Authors:
Ivona Aksentijevich  |  Natalia Sampaio Moura  |  Karyl Barron   view full author information

Additional descriptions

From OMIM
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014). Lee (2018) reviewed the basic biology of ADA2 and the various clinical manifestations of ADA2 deficiency, which include vasculitis affecting small- and medium-sized vessels causing early-onset stroke with subsequent neurologic signs, skin ulcerations resembling polyarteritis nodosa, peripheral neuropathy, immunodeficiency, autoimmune features, and hematologic abnormalities, including anemia and leukopenia. The clinical features are highly pleiotropic, and patients can present with only some of these main features. The hematologic manifestations of the disorder may sometimes resemble Diamond-Blackfan anemia (see, e.g., DBA1, 105650).  http://www.omim.org/entry/615688
From MedlinePlus Genetics
Signs and symptoms that can occur with ADA2 deficiency include fevers that are intermittent, meaning they come and go; areas of net-like, mottled skin discoloration called livedo racemosa; an enlarged liver and spleen (hepatosplenomegaly); and recurrent strokes affecting structures deep in the brain that can start in the first few years of life. In some people, ADA2 deficiency causes additional immune system abnormalities that increase the risk of bacterial and viral infections.

ADA2 deficiency is sometimes described as a form of polyarteritis nodosa (PAN), a disorder that causes inflammation of blood vessels throughout the body (systemic vasculitis). However, not all researchers classify ADA2 deficiency as a type of PAN.

Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, ADA2 deficiency causes abnormal, unprovoked inflammation that can damage the body's tissues and organs, particularly blood vessels. (Inflammation of blood vessels is known as vasculitis.) Other tissues affected by abnormal inflammation can include the skin, gastrointestinal system, liver, kidneys, and nervous system. Depending on the severity and location of the inflammation, the disorder can cause disability or be life-threatening.

Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.  https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Lymphoproliferative disorder
MedGen UID:
6162
Concept ID:
C0024314
Neoplastic Process
A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).
Renal artery aneurysm
MedGen UID:
510065
Concept ID:
C0155742
Anatomical Abnormality
Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Increased pressure in the portal vein.
Raynaud phenomenon
MedGen UID:
20474
Concept ID:
C0034735
Disease or Syndrome
An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Vasculitis
MedGen UID:
12054
Concept ID:
C0042384
Disease or Syndrome
Inflammation of blood vessel.
Esophageal varix
MedGen UID:
5027
Concept ID:
C0014867
Disease or Syndrome
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Aphasia
MedGen UID:
8159
Concept ID:
C0003537
Mental or Behavioral Dysfunction
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Hemiplegia
MedGen UID:
9196
Concept ID:
C0018991
Sign or Symptom
Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytosis
MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Bone marrow hypocellularity
MedGen UID:
383749
Concept ID:
C1855710
Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Eczematoid dermatitis
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Erythema nodosum
MedGen UID:
41858
Concept ID:
C0014743
Disease or Syndrome
An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Panniculitis
MedGen UID:
45301
Concept ID:
C0030326
Disease or Syndrome
Inflammation of subcutaneous adipose tissue.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
Hashimoto thyroiditis
MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
Hashimoto's disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto's disease is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones.\n\nOne of the first signs of Hashimoto's disease is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear.\n\nOther signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with Hashimoto's disease may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones.\n\nHashimoto's disease usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Decreased circulating antibody level
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Lupus anticoagulant
MedGen UID:
1370558
Concept ID:
C4321325
Finding
Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
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.
Elevated circulating hepatic transaminase concentration
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Elevated circulating C-reactive protein concentration
MedGen UID:
892906
Concept ID:
C4023452
Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Reduced circulating adenosine deaminase-2 activity
MedGen UID:
1052911
Concept ID:
CN377394
Finding
Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal.
Aphthous stomatitis
MedGen UID:
20959
Concept ID:
C0038363
Disease or Syndrome
Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Oral ulcer
MedGen UID:
57699
Concept ID:
C0149745
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin
Skin ulcer
MedGen UID:
52369
Concept ID:
C0037299
Disease or Syndrome
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Cutis marmorata
MedGen UID:
78093
Concept ID:
C0263401
Disease or Syndrome
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Stiff skin
MedGen UID:
478445
Concept ID:
C3276815
Finding
An induration (hardening) of the skin
Urticarial plaque
MedGen UID:
892587
Concept ID:
C4072895
Finding
A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.
Livedo racemosa
MedGen UID:
1778101
Concept ID:
C5441660
Sign or Symptom
Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVasculitis due to ADA2 deficiency

Professional guidelines

PubMed

Grim A, Veiga KR, Saad N
Rheum Dis Clin North Am 2023 Nov;49(4):773-787. Epub 2023 Aug 1 doi: 10.1016/j.rdc.2023.06.004. PMID: 37821195
Zhang B, Xu N, Chen J, Zhang S, Huang X, Shen M, Zeng X
J Investig Allergol Clin Immunol 2021 Feb 21;32(1):13-22. Epub 2021 Sep 7 doi: 10.18176/jiaci.0748. PMID: 34489224
Meyts I, Aksentijevich I
J Clin Immunol 2018 Jul;38(5):569-578. Epub 2018 Jun 27 doi: 10.1007/s10875-018-0525-8. PMID: 29951947Free PMC Article

Recent clinical studies

Etiology

Li GM, Han X, Wu Y, Wang W, Tang HX, Lu MP, Tang XM, Lin Y, Deng F, Yang J, Wang XN, Liu CC, Zheng WJ, Wu BB, Zhou F, Luo H, Zhang L, Liu HM, Guan WZ, Wang SH, Tao PF, Jin TJ, Fang R, Wu Y, Zhang J, Zhang Y, Zhang TN, Yin W, Guo L, Tang WJ, Chang H, Zhang QY, Li XZ, Li JG, Zhou ZX, Yang SR, Yang KK, Xu H, Song HM, Deuitch NT, Lee PY, Zhou Q, Sun L
J Clin Immunol 2023 May;43(4):835-845. Epub 2023 Feb 18 doi: 10.1007/s10875-023-01432-8. PMID: 36807221Free PMC Article
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Ozen S
Pediatr Nephrol 2019 Dec;34(12):2449-2456. Epub 2018 Dec 14 doi: 10.1007/s00467-018-4155-4. PMID: 30552566
Meyts I, Aksentijevich I
J Clin Immunol 2018 Jul;38(5):569-578. Epub 2018 Jun 27 doi: 10.1007/s10875-018-0525-8. PMID: 29951947Free PMC Article
Carmona FD, Martín J, González-Gay MA
Curr Opin Rheumatol 2015 Jan;27(1):10-7. doi: 10.1097/BOR.0000000000000124. PMID: 25405820

Diagnosis

Sharma V, Deo P, Sharma A
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101844. Epub 2023 Jun 15 doi: 10.1016/j.berh.2023.101844. PMID: 37328410
Li GM, Han X, Wu Y, Wang W, Tang HX, Lu MP, Tang XM, Lin Y, Deng F, Yang J, Wang XN, Liu CC, Zheng WJ, Wu BB, Zhou F, Luo H, Zhang L, Liu HM, Guan WZ, Wang SH, Tao PF, Jin TJ, Fang R, Wu Y, Zhang J, Zhang Y, Zhang TN, Yin W, Guo L, Tang WJ, Chang H, Zhang QY, Li XZ, Li JG, Zhou ZX, Yang SR, Yang KK, Xu H, Song HM, Deuitch NT, Lee PY, Zhou Q, Sun L
J Clin Immunol 2023 May;43(4):835-845. Epub 2023 Feb 18 doi: 10.1007/s10875-023-01432-8. PMID: 36807221Free PMC Article
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Meyts I, Aksentijevich I
J Clin Immunol 2018 Jul;38(5):569-578. Epub 2018 Jun 27 doi: 10.1007/s10875-018-0525-8. PMID: 29951947Free PMC Article

Therapy

Grim A, Veiga KR, Saad N
Rheum Dis Clin North Am 2023 Nov;49(4):773-787. Epub 2023 Aug 1 doi: 10.1016/j.rdc.2023.06.004. PMID: 37821195
Sharma A, Naidu G, Sharma V, Jha S, Dhooria A, Dhir V, Bhatia P, Sharma V, Bhattad S, Chengappa KG, Gupta V, Misra DP, Chavan PP, Malaviya S, Dudam R, Sharma B, Kumar S, Bhojwani R, Gupta P, Agarwal V, Sharma K, Singhal M, Rathi M, Nada R, Minz RW, Chaturvedi V, Aggarwal A, Handa R, Grossi A, Gattorno M, Huang Z, Wang J, Jois R, Negi VS, Khubchandani R, Jain S, Arostegui JI, Chambers EP, Hershfield MS, Aksentijevich I, Zhou Q, Lee PY
Arthritis Rheumatol 2021 Feb;73(2):276-285. Epub 2020 Dec 26 doi: 10.1002/art.41500. PMID: 32892503Free PMC Article
Sahin S, Adrovic A, Barut K, Ugurlu S, Turanli ET, Ozdogan H, Kasapcopur O
Rheumatol Int 2018 Jan;38(1):129-136. Epub 2017 May 17 doi: 10.1007/s00296-017-3740-3. PMID: 28516235
Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizzi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M
Ann Rheum Dis 2017 Oct;76(10):1648-1656. Epub 2017 May 18 doi: 10.1136/annrheumdis-2016-210802. PMID: 28522451
Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ, Westendorp WF, Bredius RG, Kollen WJ, Schölvinck EH, Legger GE, Meyts I, Liston A, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H, Sanders CJ, Bierings MB, Nierkens S, Van Gijn ME
Rheumatology (Oxford) 2016 May;55(5):902-10. Epub 2016 Feb 10 doi: 10.1093/rheumatology/kev439. PMID: 26867732

Prognosis

Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Antón J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L, Hernández-Rodríguez J; Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network
Clin Exp Rheumatol 2023 Oct;41(10):2105-2114. Epub 2023 Sep 28 doi: 10.55563/clinexprheumatol/ukegcc. PMID: 37812477
Oster C, Stolte B, Asan L, Pul R, Klebe S, Köhrmann M, Breuckmann K, Rischpler C, Deuschl C, Dolff S, Kleinschnitz C, Hagenacker T
J Clin Immunol 2023 Oct;43(7):1597-1602. Epub 2023 Jun 12 doi: 10.1007/s10875-023-01526-3. PMID: 37306896Free PMC Article
Bilginer Y, Ozen S
Curr Opin Pediatr 2022 Apr 1;34(2):229-233. doi: 10.1097/MOP.0000000000001106. PMID: 35081554
Putaala J
Continuum (Minneap Minn) 2020 Apr;26(2):386-414. doi: 10.1212/CON.0000000000000833. PMID: 32224758
Ozen S, Acar-Ozen NP
Curr Opin Rheumatol 2017 Sep;29(5):530-534. doi: 10.1097/BOR.0000000000000424. PMID: 28582318

Clinical prediction guides

Fonollosa A, Pelegrín L, García-Morillo S, Buján-Rivas S, Distefano L, Robles-Maruenda A, Fernández-Martín J, González-García A, Garcia-Aparicio Á, Ortego-Centeno N, Llorenç V, Sainz de la Maza M, Pinedo C, Sopeña B, Cocho L, Carreño E, Blanco R, Antón J, Pérez-Quintana M, Marques-Soares JR, Artaraz J, Ruiz-Arruza I, Soto-Peleteiro A, Gómez-Caverzaschi V, Araújo O, Espinosa G, Adan A, Fabiani C, Cantarini L, Hernández-Rodríguez J; Spanish Society of Ocular Inflammation (SEIOC) and the AutoInflammatory Diseases Alliance (AIDA) Network
Clin Exp Rheumatol 2023 Oct;41(10):2105-2114. Epub 2023 Sep 28 doi: 10.55563/clinexprheumatol/ukegcc. PMID: 37812477
Maccora I, Maniscalco V, Campani S, Carrera S, Abbati G, Marrani E, Mastrolia MV, Simonini G
Orphanet J Rare Dis 2023 May 13;18(1):117. doi: 10.1186/s13023-023-02721-6. PMID: 37179309Free PMC Article
Chen L, Mamutova A, Kozlova A, Latysheva E, Evgeny F, Latysheva T, Savostyanov K, Pushkov A, Zhanin I, Raykina E, Kurnikova M, Mersiyanova I, Platt CD, Jee H, Brodeur K, Du Y, Liu M, Weiss A, Schulert GS, Rodriguez-Smith J, Hershfield MS, Aksentijevich I, Zhou Q, Nigrovic PA, Shcherbina A, Alexeeva E, Lee PY
J Allergy Clin Immunol 2023 Sep;152(3):771-782. Epub 2023 May 5 doi: 10.1016/j.jaci.2023.04.014. PMID: 37150360
Wu Z, Gao S, Watanabe N, Batchu S, Kajigaya S, Diamond C, Alemu L, Raffo DQ, Feng X, Hoffmann P, Stone D, Ombrello A, Young NS
J Leukoc Biol 2022 Feb;111(2):301-312. Epub 2021 Nov 3 doi: 10.1002/JLB.5A0621-314R. PMID: 34730257
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Recent systematic reviews

Maccora I, Maniscalco V, Campani S, Carrera S, Abbati G, Marrani E, Mastrolia MV, Simonini G
Orphanet J Rare Dis 2023 May 13;18(1):117. doi: 10.1186/s13023-023-02721-6. PMID: 37179309Free PMC Article
Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulié N, Guichard I, Dupin N, Franck N, Cohen P, Bessis D, Guenno GL, Koné-Paut I, Belot A, Bonhomme A, Ducharme-Bénard S, Grateau G, Sarrabay G, Touitou I, Boursier G, Georgin-Lavialle S
Semin Arthritis Rheum 2021 Dec;51(6):1170-1179. Epub 2021 Sep 16 doi: 10.1016/j.semarthrit.2021.09.001. PMID: 34571400
Kasap Cuceoglu M, Sener S, Batu ED, Kaya Akca U, Demir S, Sag E, Atalay E, Balık Z, Basaran O, Bilginer Y, Ozen S
Semin Arthritis Rheum 2021 Jun;51(3):559-564. Epub 2021 Apr 19 doi: 10.1016/j.semarthrit.2021.04.009. PMID: 33901990

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