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Immunodeficiency 87 and autoimmunity(IMD87)

MedGen UID:
1794280
Concept ID:
C5562070
Disease or Syndrome
Synonyms: IMD87; IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
 
Gene (location): DEF6 (6p21.31)
 
Monarch Initiative: MONDO:0030457
OMIM®: 619573

Definition

Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021). [from OMIM]

Clinical features

From HPO
Classic Hodgkin lymphoma
MedGen UID:
9283
Concept ID:
C0019829
Neoplastic Process
Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).
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.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Third degree atrioventricular block
MedGen UID:
56230
Concept ID:
C0151517
Disease or Syndrome
Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.
Biventricular hypertrophy
MedGen UID:
807328
Concept ID:
C0281788
Disease or Syndrome
Thickening of the heart walls in both ventricles.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Cholestasis
MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Atrophic gastritis
MedGen UID:
42157
Concept ID:
C0017154
Disease or Syndrome
Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Hepatic failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
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.
Secretory diarrhea
MedGen UID:
75635
Concept ID:
C0267557
Disease or Syndrome
Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
Necrotizing enterocolitis
MedGen UID:
105440
Concept ID:
C0520459
Disease or Syndrome
Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.
Villous atrophy
MedGen UID:
154306
Concept ID:
C0554101
Finding
The enteric villi are atrophic or absent.
Perianal dermatitis
MedGen UID:
640420
Concept ID:
C0554478
Disease or Syndrome
The presence of a rash (change of color and texture) of the perianal skin.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Increased fecal calprotectin level
MedGen UID:
1814229
Concept ID:
C5676656
Finding
An increased amount of calprotectin in the feces.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Pleural effusion
MedGen UID:
10805
Concept ID:
C0032227
Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Autoimmune hemolytic anemia
MedGen UID:
1918
Concept ID:
C0002880
Disease or Syndrome
An autoimmune form of hemolytic anemia.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.
Cervical lymphadenopathy
MedGen UID:
66724
Concept ID:
C0235592
Disease or Syndrome
Enlarged lymph nodes in the neck.
Decreased CD4:CD8 ratio
MedGen UID:
163125
Concept ID:
C0853905
Finding
An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.
Recurrent viral infections
MedGen UID:
332357
Concept ID:
C1837066
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Recurrent fungal infections
MedGen UID:
336166
Concept ID:
C1844384
Disease or Syndrome
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
Persistent EBV viremia
MedGen UID:
767466
Concept ID:
C3554552
Finding
Persistent presence of Epstein-Barr virus in the blood.
Abnormal lymphocyte proliferation
MedGen UID:
1613254
Concept ID:
C4531169
Cell or Molecular Dysfunction
Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.
Severe cytomegalovirus infection
MedGen UID:
1634535
Concept ID:
C4703481
Disease or Syndrome
An unusually severe infection by cytomegalovirus.
Decreased proportion of CD4-positive T cells
MedGen UID:
1698933
Concept ID:
C5139203
Finding
A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.
Perinuclear antineutrophil antibody positivity
MedGen UID:
1696202
Concept ID:
C5139209
Laboratory or Test Result
The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.
Anticardiolipin IgG antibody positivity
MedGen UID:
1696853
Concept ID:
C5209232
Laboratory or Test Result
The presence of circulating IgG autoantibodies to cardiolipin.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Anasarca
MedGen UID:
101794
Concept ID:
C0151603
Pathologic Function
An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
57497
Concept ID:
C0151904
Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
Concept ID:
C0151905
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides 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.
Elevated gamma-glutamyltransferase level
MedGen UID:
1370086
Concept ID:
C4476869
Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Premature rupture of membranes
MedGen UID:
8826
Concept ID:
C0015944
Pathologic Function
Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Inversion of nipple
MedGen UID:
82844
Concept ID:
C0269269
Anatomical Abnormality
The presence of nipples that instead of pointing outward are retracted inwards.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Professional guidelines

PubMed

Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, Farmand S, Formankova R, Gennery AR, Gonzalez-Granado LI, Hagin D, Hanitsch LG, Hanzlikovà J, Hauck F, Ivorra-Cortés J, Kisand K, Kiykim A, Körholz J, Leahy TR, van Montfrans J, Nademi Z, Nelken B, Parikh S, Plado S, Ramakers J, Redlich A, Rieux-Laucat F, Rivière JG, Rodina Y, Júnior PR, Salou S, Schuetz C, Shcherbina A, Slatter MA, Touzot F, Unal E, Lankester AC, Burns S, Seppänen MRJ, Neth O, Albert MH, Ehl S, Neven B, Speckmann C
J Allergy Clin Immunol 2024 Jan;153(1):275-286.e18. Epub 2023 Nov 5 doi: 10.1016/j.jaci.2023.10.018. PMID: 37935260
Méndez Barrera JA, Rocha Guzmán S, Hierro Cascajares E, Garabedian EK, Fuleihan RL, Sullivan KE, Lugo Reyes SO
Clin Immunol 2023 Oct;255:109759. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109759. PMID: 37678719
Gao Y, Soubani A
Adv Respir Med 2019;87(6):231-243. doi: 10.5603/ARM.2019.0061. PMID: 31970725

Recent clinical studies

Etiology

Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, Farmand S, Formankova R, Gennery AR, Gonzalez-Granado LI, Hagin D, Hanitsch LG, Hanzlikovà J, Hauck F, Ivorra-Cortés J, Kisand K, Kiykim A, Körholz J, Leahy TR, van Montfrans J, Nademi Z, Nelken B, Parikh S, Plado S, Ramakers J, Redlich A, Rieux-Laucat F, Rivière JG, Rodina Y, Júnior PR, Salou S, Schuetz C, Shcherbina A, Slatter MA, Touzot F, Unal E, Lankester AC, Burns S, Seppänen MRJ, Neth O, Albert MH, Ehl S, Neven B, Speckmann C
J Allergy Clin Immunol 2024 Jan;153(1):275-286.e18. Epub 2023 Nov 5 doi: 10.1016/j.jaci.2023.10.018. PMID: 37935260
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort, Tsang JS, Goldbach-Mansky R, Kisand K, Lionakis MS, Puel A, Zhang SY, Holland SM, Gorochov G, Jouanguy E, Rice CM, Cobat A, Notarangelo LD, Abel L, Su HC, Casanova JL
Science 2020 Oct 23;370(6515) Epub 2020 Sep 24 doi: 10.1126/science.abd4585. PMID: 32972996Free PMC Article
Gao Y, Soubani A
Adv Respir Med 2019;87(6):231-243. doi: 10.5603/ARM.2019.0061. PMID: 31970725
Pimenta FMCA, Palma SMU, Constantino-Silva RN, Grumach AS
Braz J Med Biol Res 2019;52(10):e8926. Epub 2019 Oct 10 doi: 10.1590/1414-431X20198926. PMID: 31618370Free PMC Article
Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T, Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas DA, Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra HJ, Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo D, Cui J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van Riel PL, van de Laar MA, Guchelaar HJ, Huizinga TW, Dieudé P, Mariette X, Bridges SL Jr, Zhernakova A, Toes RE, Tak PP, Miceli-Richard C, Bang SY, Lee HS, Martin J, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Rantapää-Dahlqvist S, Arlestig L, Choi HK, Kamatani Y, Galan P, Lathrop M; RACI consortium; GARNET consortium, Eyre S, Bowes J, Barton A, de Vries N, Moreland LW, Criswell LA, Karlson EW, Taniguchi A, Yamada R, Kubo M, Liu JS, Bae SC, Worthington J, Padyukov L, Klareskog L, Gregersen PK, Raychaudhuri S, Stranger BE, De Jager PL, Franke L, Visscher PM, Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H, Behrens TW, Siminovitch KA, Momohara S, Matsuda F, Yamamoto K, Plenge RM
Nature 2014 Feb 20;506(7488):376-81. Epub 2013 Dec 25 doi: 10.1038/nature12873. PMID: 24390342Free PMC Article

Diagnosis

Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B
J Clin Immunol 2023 Aug;43(6):1289-1301. Epub 2023 Apr 21 doi: 10.1007/s10875-023-01472-0. PMID: 37084016Free PMC Article
Catak MC, Akcam B, Bilgic Eltan S, Babayeva R, Karakus IS, Akgun G, Baser D, Bulutoglu A, Bayram F, Kasap N, Kiykim A, Hancioglu G, Kokcu Karadag SI, Kendir Demirkol Y, Ozen S, Cekic S, Ozcan D, Edeer Karaca N, Sasihuseyinoglu AS, Cansever M, Ozek Yucel E, Tamay Z, Altintas DU, Aydogmus C, Celmeli F, Cokugras H, Gulez N, Genel F, Metin A, Guner SN, Kutukculer N, Keles S, Reisli I, Kilic SS, Yildiran A, Karakoc-Aydiner E, Lo B, Ozen A, Baris S
Allergy 2022 Oct;77(10):3108-3123. Epub 2022 May 12 doi: 10.1111/all.15331. PMID: 35491430
Lopes JP, Ho HE, Cunningham-Rundles C
Front Immunol 2021;12:605945. Epub 2021 Mar 11 doi: 10.3389/fimmu.2021.605945. PMID: 33776995Free PMC Article
Gao Y, Soubani A
Adv Respir Med 2019;87(6):231-243. doi: 10.5603/ARM.2019.0061. PMID: 31970725
Pimenta FMCA, Palma SMU, Constantino-Silva RN, Grumach AS
Braz J Med Biol Res 2019;52(10):e8926. Epub 2019 Oct 10 doi: 10.1590/1414-431X20198926. PMID: 31618370Free PMC Article

Therapy

Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, Farmand S, Formankova R, Gennery AR, Gonzalez-Granado LI, Hagin D, Hanitsch LG, Hanzlikovà J, Hauck F, Ivorra-Cortés J, Kisand K, Kiykim A, Körholz J, Leahy TR, van Montfrans J, Nademi Z, Nelken B, Parikh S, Plado S, Ramakers J, Redlich A, Rieux-Laucat F, Rivière JG, Rodina Y, Júnior PR, Salou S, Schuetz C, Shcherbina A, Slatter MA, Touzot F, Unal E, Lankester AC, Burns S, Seppänen MRJ, Neth O, Albert MH, Ehl S, Neven B, Speckmann C
J Allergy Clin Immunol 2024 Jan;153(1):275-286.e18. Epub 2023 Nov 5 doi: 10.1016/j.jaci.2023.10.018. PMID: 37935260
Rao VK, Kulm E, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Dalm VA, Trizzino A, Zharankova Y, Webster S, Orpia A, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Relan A, Holland SM, Lenardo MJ, Uzel G
J Allergy Clin Immunol 2024 Jan;153(1):265-274.e9. Epub 2023 Oct 4 doi: 10.1016/j.jaci.2023.09.032. PMID: 37797893Free PMC Article
Gao Y, Soubani A
Adv Respir Med 2019;87(6):231-243. doi: 10.5603/ARM.2019.0061. PMID: 31970725
Pimenta FMCA, Palma SMU, Constantino-Silva RN, Grumach AS
Braz J Med Biol Res 2019;52(10):e8926. Epub 2019 Oct 10 doi: 10.1590/1414-431X20198926. PMID: 31618370Free PMC Article
Basta M, Branch DR
Clin Exp Immunol 2014 Dec;178 Suppl 1(Suppl 1):87-8. doi: 10.1111/cei.12523. PMID: 25546774Free PMC Article

Prognosis

Triggianese P, Vitale A, Lopalco G, Mayrink Giardini HA, Ciccia F, Al-Maghlouth I, Ruscitti P, Sfikakis PP, Iannone F, de Brito Antonelli IP, Patrone M, Asfina KN, Di Cola I, Laskari K, Gaggiano C, Tufan A, Sfriso P, Dagna L, Giacomelli R, Hinojosa-Azaola A, Ragab G, Fotis L, Direskeneli H, Spedicato V, Dagostin MA, Iacono D, Ali HH, Cipriani P, Sota J, Kardas RC, Bindoli S, Campochiaro C, Navarini L, Gentileschi S, Martín-Nares E, Torres-Ruiz J, Saad MA, Kourtesi K, Alibaz-Oner F, Sevik G, Iagnocco A, Makowska J, Govoni M, Monti S, Maggio MC, La Torre F, Del Giudice E, Hernández-Rodríguez J, Bartoloni E, Emmi G, Chimenti MS, Maier A, Simonini G, Conti G, Olivieri AN, Tarsia M, De Paulis A, Lo Gullo A, Więsik-Szewczyk E, Viapiana O, Ogunjimi B, Tharwat S, Erten S, Nuzzolese R, Karamanakos A, Frassi M, Conforti A, Caggiano V, Marino A, Sebastiani GD, Gidaro A, Tombetti E, Carubbi F, Rubegni G, Cartocci A, Balistreri A, Fabiani C, Frediani B, Cantarini L
Intern Emerg Med 2023 Nov;18(8):2231-2243. Epub 2023 Oct 12 doi: 10.1007/s11739-023-03408-3. PMID: 37828268Free PMC Article
Ciacci C, Bai JC, Holmes G, Al-Toma A, Biagi F, Carroccio A, Ciccocioppo R, Di Sabatino A, Gingold-Belfer R, Jinga M, Makharia G, Niveloni S, Norman GL, Rostami K, Sanders DS, Smecuol E, Villanacci V, Vivas S, Zingone F; Bi.A.CeD study group
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1005-1014. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00205-4. PMID: 37696284
Catak MC, Akcam B, Bilgic Eltan S, Babayeva R, Karakus IS, Akgun G, Baser D, Bulutoglu A, Bayram F, Kasap N, Kiykim A, Hancioglu G, Kokcu Karadag SI, Kendir Demirkol Y, Ozen S, Cekic S, Ozcan D, Edeer Karaca N, Sasihuseyinoglu AS, Cansever M, Ozek Yucel E, Tamay Z, Altintas DU, Aydogmus C, Celmeli F, Cokugras H, Gulez N, Genel F, Metin A, Guner SN, Kutukculer N, Keles S, Reisli I, Kilic SS, Yildiran A, Karakoc-Aydiner E, Lo B, Ozen A, Baris S
Allergy 2022 Oct;77(10):3108-3123. Epub 2022 May 12 doi: 10.1111/all.15331. PMID: 35491430
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J; HGID Lab; NIAID-USUHS Immune Response to COVID Group; COVID Clinicians; COVID-STORM Clinicians; Imagine COVID Group; French COVID Cohort Study Group; Milieu Intérieur Consortium; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort, Tsang JS, Goldbach-Mansky R, Kisand K, Lionakis MS, Puel A, Zhang SY, Holland SM, Gorochov G, Jouanguy E, Rice CM, Cobat A, Notarangelo LD, Abel L, Su HC, Casanova JL
Science 2020 Oct 23;370(6515) Epub 2020 Sep 24 doi: 10.1126/science.abd4585. PMID: 32972996Free PMC Article
Pimenta FMCA, Palma SMU, Constantino-Silva RN, Grumach AS
Braz J Med Biol Res 2019;52(10):e8926. Epub 2019 Oct 10 doi: 10.1590/1414-431X20198926. PMID: 31618370Free PMC Article

Clinical prediction guides

Rao VK, Kulm E, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Dalm VA, Trizzino A, Zharankova Y, Webster S, Orpia A, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Relan A, Holland SM, Lenardo MJ, Uzel G
J Allergy Clin Immunol 2024 Jan;153(1):265-274.e9. Epub 2023 Oct 4 doi: 10.1016/j.jaci.2023.09.032. PMID: 37797893Free PMC Article
Triggianese P, Vitale A, Lopalco G, Mayrink Giardini HA, Ciccia F, Al-Maghlouth I, Ruscitti P, Sfikakis PP, Iannone F, de Brito Antonelli IP, Patrone M, Asfina KN, Di Cola I, Laskari K, Gaggiano C, Tufan A, Sfriso P, Dagna L, Giacomelli R, Hinojosa-Azaola A, Ragab G, Fotis L, Direskeneli H, Spedicato V, Dagostin MA, Iacono D, Ali HH, Cipriani P, Sota J, Kardas RC, Bindoli S, Campochiaro C, Navarini L, Gentileschi S, Martín-Nares E, Torres-Ruiz J, Saad MA, Kourtesi K, Alibaz-Oner F, Sevik G, Iagnocco A, Makowska J, Govoni M, Monti S, Maggio MC, La Torre F, Del Giudice E, Hernández-Rodríguez J, Bartoloni E, Emmi G, Chimenti MS, Maier A, Simonini G, Conti G, Olivieri AN, Tarsia M, De Paulis A, Lo Gullo A, Więsik-Szewczyk E, Viapiana O, Ogunjimi B, Tharwat S, Erten S, Nuzzolese R, Karamanakos A, Frassi M, Conforti A, Caggiano V, Marino A, Sebastiani GD, Gidaro A, Tombetti E, Carubbi F, Rubegni G, Cartocci A, Balistreri A, Fabiani C, Frediani B, Cantarini L
Intern Emerg Med 2023 Nov;18(8):2231-2243. Epub 2023 Oct 12 doi: 10.1007/s11739-023-03408-3. PMID: 37828268Free PMC Article
Ciacci C, Bai JC, Holmes G, Al-Toma A, Biagi F, Carroccio A, Ciccocioppo R, Di Sabatino A, Gingold-Belfer R, Jinga M, Makharia G, Niveloni S, Norman GL, Rostami K, Sanders DS, Smecuol E, Villanacci V, Vivas S, Zingone F; Bi.A.CeD study group
Lancet Gastroenterol Hepatol 2023 Nov;8(11):1005-1014. Epub 2023 Sep 9 doi: 10.1016/S2468-1253(23)00205-4. PMID: 37696284
Catak MC, Akcam B, Bilgic Eltan S, Babayeva R, Karakus IS, Akgun G, Baser D, Bulutoglu A, Bayram F, Kasap N, Kiykim A, Hancioglu G, Kokcu Karadag SI, Kendir Demirkol Y, Ozen S, Cekic S, Ozcan D, Edeer Karaca N, Sasihuseyinoglu AS, Cansever M, Ozek Yucel E, Tamay Z, Altintas DU, Aydogmus C, Celmeli F, Cokugras H, Gulez N, Genel F, Metin A, Guner SN, Kutukculer N, Keles S, Reisli I, Kilic SS, Yildiran A, Karakoc-Aydiner E, Lo B, Ozen A, Baris S
Allergy 2022 Oct;77(10):3108-3123. Epub 2022 May 12 doi: 10.1111/all.15331. PMID: 35491430
Pimenta FMCA, Palma SMU, Constantino-Silva RN, Grumach AS
Braz J Med Biol Res 2019;52(10):e8926. Epub 2019 Oct 10 doi: 10.1590/1414-431X20198926. PMID: 31618370Free PMC Article

Recent systematic reviews

Hanson J, Bonnen PE
Clin Exp Med 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y. PMID: 38280023Free PMC Article
Saghazadeh A, Rezaei N
Int Immunopharmacol 2022 Nov;112:109205. Epub 2022 Sep 7 doi: 10.1016/j.intimp.2022.109205. PMID: 36087508
Zhang W, Chen X, Gao G, Xing S, Zhou L, Tang X, Zhao X, An Y
Front Immunol 2021;12:654406. Epub 2021 Mar 11 doi: 10.3389/fimmu.2021.654406. PMID: 33777053Free PMC Article
Momtazmanesh S, Shobeiri P, Saghazadeh A, Teunissen CE, Burman J, Szalardy L, Klivenyi P, Bartos A, Fernandes A, Rezaei N
Rev Neurosci 2021 Aug 26;32(6):573-595. Epub 2021 Feb 17 doi: 10.1515/revneuro-2020-0145. PMID: 33594840
Jamee M, Zaki-Dizaji M, Lo B, Abolhassani H, Aghamahdi F, Mosavian M, Nademi Z, Mohammadi H, Jadidi-Niaragh F, Rojas M, Anaya JM, Azizi G
J Allergy Clin Immunol Pract 2020 Sep;8(8):2747-2760.e7. Epub 2020 May 16 doi: 10.1016/j.jaip.2020.04.070. PMID: 32428713

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