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Immunodeficiency 82 with systemic inflammation(IMD82)

MedGen UID:
1781752
Concept ID:
C5543581
Disease or Syndrome
Synonyms: IMD82; IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
 
Gene (location): SYK (9q22.2)
 
Monarch Initiative: MONDO:0030308
OMIM®: 619381

Definition

Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021). [from OMIM]

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.
B-cell lymphoma
MedGen UID:
86953
Concept ID:
C0079731
Neoplastic Process
A type of lymphoma that originates in B-cells.
Vasculitis in the skin
MedGen UID:
488809
Concept ID:
C0262988
Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
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.
Crohn disease
MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Duodenal ulcer
MedGen UID:
41670
Concept ID:
C0013295
Disease or Syndrome
An erosion of the mucous membrane in a portion of the duodenum.
Gastritis
MedGen UID:
4843
Concept ID:
C0017152
Disease or Syndrome
The presence of inflammation of the gastric mucous membrane.
Hepatitis
MedGen UID:
5515
Concept ID:
C0019158
Disease or Syndrome
Inflammation of the liver.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Villous atrophy
MedGen UID:
154306
Concept ID:
C0554101
Finding
The enteric villi are atrophic or absent.
Intractable diarrhea
MedGen UID:
148164
Concept ID:
C0743178
Disease or Syndrome
Bowel irritability
MedGen UID:
1784123
Concept ID:
C1405426
Disease or Syndrome
Intermittent abdominal pain with diarrhea and/or constipation.
Anoperineal fistula
MedGen UID:
324365
Concept ID:
C1835798
Anatomical Abnormality
The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.
Cholesteatoma
MedGen UID:
3043
Concept ID:
C0008373
Disease or Syndrome
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
Anorexia
MedGen UID:
315
Concept ID:
C0003123
Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Spinal cord granuloma
MedGen UID:
1054664
Concept ID:
CN376769
Finding
An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Osteomalacia
MedGen UID:
14533
Concept ID:
C0029442
Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Joint swelling
MedGen UID:
56258
Concept ID:
C0152031
Finding
The presence of swelling in a joint.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Bronchitis
MedGen UID:
2736
Concept ID:
C0006277
Disease or Syndrome
Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.
Osteomyelitis
MedGen UID:
10497
Concept ID:
C0029443
Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Pustular rash
MedGen UID:
43222
Concept ID:
C0085641
Sign or Symptom
A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
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.
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.
Recurrent skin infections
MedGen UID:
377848
Concept ID:
C1853193
Disease or Syndrome
Infections of the skin that happen multiple times.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Reduced natural killer cell count
MedGen UID:
383765
Concept ID:
C1855767
Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Follicular hyperplasia
MedGen UID:
863170
Concept ID:
C4014733
Finding
Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
Decreased circulating total IgA
MedGen UID:
871140
Concept ID:
C4025611
Finding
Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).
Recurrent abscess formation
MedGen UID:
871205
Concept ID:
C4025684
Finding
An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.
Decreased proportion of naive T cells
MedGen UID:
1611928
Concept ID:
C4531152
Finding
An abnormally decreased proportion of naive T cells relative to the total number of T cells.
Decreased lymphocyte proliferation in response to mitogen
MedGen UID:
1615224
Concept ID:
C4531166
Cell or Molecular Dysfunction
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).
Decreased circulating total IgG
MedGen UID:
1692727
Concept ID:
C5139151
Finding
A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Hypernatremia
MedGen UID:
6966
Concept ID:
C0020488
Disease or Syndrome
An abnormally increased sodium concentration in the blood.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.
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.
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.
Postauricular pit
MedGen UID:
583129
Concept ID:
C0395905
Acquired Abnormality
Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.

Professional guidelines

PubMed

Zanni MV, Toribio M, Robbins GK, Burdo TH, Lu MT, Ishai AE, Feldpausch MN, Martin A, Melbourne K, Triant VA, Suchindran S, Lee H, Hoffmann U, Williams KC, Tawakol A, Grinspoon SK
JAMA Cardiol 2016 Jul 1;1(4):474-80. doi: 10.1001/jamacardio.2016.0846. PMID: 27438325Free PMC Article

Recent clinical studies

Etiology

Hussain MA, Watson CW, Morgan EE, Heaton RK, Letendre SL, Jeste DV, Moore DJ, Iudicello JE
J Neurovirol 2023 Oct;29(5):538-554. Epub 2023 Aug 31 doi: 10.1007/s13365-023-01145-z. PMID: 37651083Free PMC Article
Touitou I, Jéziorski E, Al-Saleh A, Carbasse A, Piram M
Joint Bone Spine 2023 Mar;90(2):105475. Epub 2022 Oct 28 doi: 10.1016/j.jbspin.2022.105475. PMID: 36404572
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari FS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Erikstrup C, Condino-Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S; HGID Lab; COVID Clinicians; COVID-STORM Clinicians; NIAID Immune Response to COVID Group; NH-COVAIR Study Group; Danish CHGE; Danish Blood Donor Study; St. James's Hospital, SARS CoV2 Interest Group; French COVID Cohort Study Group; Imagine COVID-Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank Investigators; COVID Human Genetic Effort; CP-COVID-19 Group; CONSTANCES cohort; 3C-Dijon Study; Cerba Health-Care; Etablissement Français du Sang Study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Burdet C, Bouadma L, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Casanova JL, Abel L, Cobat A
Proc Natl Acad Sci U S A 2022 May 24;119(21):e2200413119. Epub 2022 May 16 doi: 10.1073/pnas.2200413119. PMID: 35576468Free PMC Article
Andreu-Ballester JC, Pons-Castillo A, González-Sánchez A, Llombart-Cussac A, Cano MJ, Cuéllar C
PLoS One 2021;16(8):e0256205. Epub 2021 Aug 13 doi: 10.1371/journal.pone.0256205. PMID: 34388210Free PMC Article
Saleh AD, Chalmers JD, De Soyza A, Fardon TC, Koustas SO, Scott J, Simpson AJ, Brown JS, Hurst JR
Respir Med 2017 Jun;127:33-39. Epub 2017 Apr 17 doi: 10.1016/j.rmed.2017.04.009. PMID: 28502416

Diagnosis

Han WM, Apornpong T, Gatechompol S, Ubolyam S, Chattranukulchai P, Wattanachanya L, Siwamogsatham S, Kerr SJ, Erlandson KM, Avihingsanon A
BMC Geriatr 2022 Dec 31;22(1):1010. doi: 10.1186/s12877-022-03720-1. PMID: 36585655Free PMC Article
Andreu-Ballester JC, Pons-Castillo A, González-Sánchez A, Llombart-Cussac A, Cano MJ, Cuéllar C
PLoS One 2021;16(8):e0256205. Epub 2021 Aug 13 doi: 10.1371/journal.pone.0256205. PMID: 34388210Free PMC Article
Thudium RF, Ringheim H, Ronit A, Hoel H, Benfield T, Mocroft A, Gerstoft J, Trøseid M, Borges ÁH, Ostrowski SR, Vestbo J, Nielsen SD
Front Immunol 2021;12:668113. Epub 2021 Apr 14 doi: 10.3389/fimmu.2021.668113. PMID: 33936110Free PMC Article
Rose-Nussbaumer J, Goldstein DA, Thorne JE, Arantes TE, Acharya NR, Shakoor A, Jeng BH, Yeh S, Rahman H, Vemulakonda GA, Flaxel CJ, West SK, Holland GN, Smith JR
Clin Exp Ophthalmol 2014 Mar;42(2):118-25. Epub 2013 Jul 29 doi: 10.1111/ceo.12141. PMID: 23777456
Chi AC, Neville BW, Krayer JW, Gonsalves WC
Am Fam Physician 2010 Dec 1;82(11):1381-8. PMID: 21121523

Therapy

Chrysostomou SE, Eder S, Pototschnig I, Mayer AL, Derler M, Mussbacher M, Schauer S, Zhang D, Yan D, Liu G, Hoefler G, Weichhart T, Vesely PW, Zhang L, Schweiger M
J Cachexia Sarcopenia Muscle 2024 Apr;15(2):562-574. Epub 2024 Feb 1 doi: 10.1002/jcsm.13422. PMID: 38302863Free PMC Article
Bagchi S, Kwapong YA, Schär M, Bonanno G, Streeb V, Lai S, Gerstenblith G, Weiss RG, Hays AG
J Acquir Immune Defic Syndr 2023 May 1;93(1):47-54. doi: 10.1097/QAI.0000000000003162. PMID: 36634369Free PMC Article
Cyktor J, Qin S, Staines B, Nouraie M, Fitzpatrick M, Kessinger C, DeSensi R, Huang L, Rinaldo CR, Kingsley L, Tien PC, Mellors JW, Morris A
Medicine (Baltimore) 2022 Jul 8;101(27):e29264. doi: 10.1097/MD.0000000000029264. PMID: 35801755Free PMC Article
OʼMeara T, Kong Y, Chiarella J, Price RW, Chaudhury R, Liu X, Spudich S, Robertson K, Emu B, Lu L
J Acquir Immune Defic Syndr 2019 Dec 15;82(5):514-522. doi: 10.1097/QAI.0000000000002187. PMID: 31714431Free PMC Article
Musinguzi N, Castillo-Mancilla J, Morrow M, Byakwaga H, Mawhinney S, Burdo TH, Boum Y, Muzoora C, Bwana BM, Siedner MJ, Martin JN, Hunt PW, Bangsberg DR, Haberer JE
J Acquir Immune Defic Syndr 2019 Dec 1;82(4):386-391. doi: 10.1097/QAI.0000000000002148. PMID: 31658181Free PMC Article

Prognosis

Hussain MA, Watson CW, Morgan EE, Heaton RK, Letendre SL, Jeste DV, Moore DJ, Iudicello JE
J Neurovirol 2023 Oct;29(5):538-554. Epub 2023 Aug 31 doi: 10.1007/s13365-023-01145-z. PMID: 37651083Free PMC Article
Shakil SS, Temu TM, Kityo C, Nazzinda R, Erem G, Kentoffio K, Bittencourt M, Ntusi NAB, Zanni MV, Longenecker CT
AIDS 2023 Mar 15;37(4):579-586. Epub 2022 Nov 29 doi: 10.1097/QAD.0000000000003451. PMID: 36730004Free PMC Article
Han WM, Apornpong T, Gatechompol S, Ubolyam S, Chattranukulchai P, Wattanachanya L, Siwamogsatham S, Kerr SJ, Erlandson KM, Avihingsanon A
BMC Geriatr 2022 Dec 31;22(1):1010. doi: 10.1186/s12877-022-03720-1. PMID: 36585655Free PMC Article
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari FS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Erikstrup C, Condino-Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S; HGID Lab; COVID Clinicians; COVID-STORM Clinicians; NIAID Immune Response to COVID Group; NH-COVAIR Study Group; Danish CHGE; Danish Blood Donor Study; St. James's Hospital, SARS CoV2 Interest Group; French COVID Cohort Study Group; Imagine COVID-Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank Investigators; COVID Human Genetic Effort; CP-COVID-19 Group; CONSTANCES cohort; 3C-Dijon Study; Cerba Health-Care; Etablissement Français du Sang Study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Burdet C, Bouadma L, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Casanova JL, Abel L, Cobat A
Proc Natl Acad Sci U S A 2022 May 24;119(21):e2200413119. Epub 2022 May 16 doi: 10.1073/pnas.2200413119. PMID: 35576468Free PMC Article
Andreu-Ballester JC, Pons-Castillo A, González-Sánchez A, Llombart-Cussac A, Cano MJ, Cuéllar C
PLoS One 2021;16(8):e0256205. Epub 2021 Aug 13 doi: 10.1371/journal.pone.0256205. PMID: 34388210Free PMC Article

Clinical prediction guides

Hussain MA, Watson CW, Morgan EE, Heaton RK, Letendre SL, Jeste DV, Moore DJ, Iudicello JE
J Neurovirol 2023 Oct;29(5):538-554. Epub 2023 Aug 31 doi: 10.1007/s13365-023-01145-z. PMID: 37651083Free PMC Article
Shakil SS, Temu TM, Kityo C, Nazzinda R, Erem G, Kentoffio K, Bittencourt M, Ntusi NAB, Zanni MV, Longenecker CT
AIDS 2023 Mar 15;37(4):579-586. Epub 2022 Nov 29 doi: 10.1097/QAD.0000000000003451. PMID: 36730004Free PMC Article
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