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Humoral immunodeficiency

MedGen UID:
1616160
Concept ID:
C1399819
Disease or Syndrome
HPO: HP:0005363

Definition

A general term referring to a defect in immunity resulting from impaired antibody production. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHumoral immunodeficiency

Professional guidelines

PubMed

Delgado-Fernández M, García-Gemar GM, Fuentes-López A, Muñoz-Pérez MI, Oyonarte-Gómez S, Ruíz-García I, Martín-Carmona J, Sanz-Cánovas J, Castaño-Carracedo MÁ, Reguera-Iglesias JM, Ruíz-Mesa JD
Enferm Infecc Microbiol Clin (Engl Ed) 2022 Nov;40(9):507-516. doi: 10.1016/j.eimce.2021.01.009. PMID: 36336380Free PMC Article
Patel NC
Pediatr Allergy Immunol 2018 Sep;29(6):583-588. Epub 2018 May 29 doi: 10.1111/pai.12923. PMID: 29744952
Eisenstein EM, Sneller MC
Ann Allergy 1994 Oct;73(4):285-92; quiz 293-4. PMID: 7943995

Recent clinical studies

Etiology

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Soshnick SH, Joseph T, Bennett NJ
J Clin Immunol 2021 Aug;41(6):1208-1212. Epub 2021 Mar 19 doi: 10.1007/s10875-021-01012-8. PMID: 33740168
Sherwani P, Bhalla AS, Jana M, Naranje P, Kabra SK, Gupta AK, Kandasamy D
Indian J Pediatr 2020 Oct;87(10):846-849. Epub 2020 May 8 doi: 10.1007/s12098-020-03289-w. PMID: 32385778
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Looney RJ, Huggins J
Best Pract Res Clin Haematol 2006;19(1):3-25. doi: 10.1016/j.beha.2005.01.032. PMID: 16377538

Diagnosis

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Sherwani P, Bhalla AS, Jana M, Naranje P, Kabra SK, Gupta AK, Kandasamy D
Indian J Pediatr 2020 Oct;87(10):846-849. Epub 2020 May 8 doi: 10.1007/s12098-020-03289-w. PMID: 32385778
Rijkers GT, Holzer L, Dusselier T
Curr Opin Pulm Med 2019 May;25(3):323-329. doi: 10.1097/MCP.0000000000000580. PMID: 30920458
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Ryan MW, Brooks EG
Curr Allergy Asthma Rep 2010 May;10(3):188-93. doi: 10.1007/s11882-010-0098-y. PMID: 20424995

Therapy

Soshnick SH, Joseph T, Bennett NJ
J Clin Immunol 2021 Aug;41(6):1208-1212. Epub 2021 Mar 19 doi: 10.1007/s10875-021-01012-8. PMID: 33740168
Patel NC
Pediatr Allergy Immunol 2018 Sep;29(6):583-588. Epub 2018 May 29 doi: 10.1111/pai.12923. PMID: 29744952
Schroeder HW Jr, Dougherty CJ
Infection 2012 Dec;40(6):601-11. Epub 2012 Sep 12 doi: 10.1007/s15010-012-0323-9. PMID: 22968971Free PMC Article
Ryan MW, Brooks EG
Curr Allergy Asthma Rep 2010 May;10(3):188-93. doi: 10.1007/s11882-010-0098-y. PMID: 20424995
Looney RJ, Huggins J
Best Pract Res Clin Haematol 2006;19(1):3-25. doi: 10.1016/j.beha.2005.01.032. PMID: 16377538

Prognosis

Guevara-Hoyer K, Fuentes-Antrás J, Calatayud Gastardi J, Sánchez-Ramón S
Immunol Lett 2021 Mar;231:11-17. Epub 2021 Jan 5 doi: 10.1016/j.imlet.2020.12.010. PMID: 33418010
Rijkers GT, Holzer L, Dusselier T
Curr Opin Pulm Med 2019 May;25(3):323-329. doi: 10.1097/MCP.0000000000000580. PMID: 30920458
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Dosanjh A
Respir Med 2011 Apr;105(4):511-4. Epub 2010 Dec 8 doi: 10.1016/j.rmed.2010.11.013. PMID: 21144721
Ryan MW, Brooks EG
Curr Allergy Asthma Rep 2010 May;10(3):188-93. doi: 10.1007/s11882-010-0098-y. PMID: 20424995

Clinical prediction guides

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
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Grywalska E, Zaborek M, Łyczba J, Hrynkiewicz R, Bębnowska D, Becht R, Sosnowska-Pasiarska B, Smok-Kalwat J, Pasiarski M, Góźdź S, Roliński J, Niedźwiedzka-Rystwej P
Cells 2020 Nov 2;9(11) doi: 10.3390/cells9112398. PMID: 33147729Free PMC Article
Peppers BP, Zacharias J, Michaud CR, Frith JA, Varma P, Henning M, Quinn LM, Tcheurekdjian H, Craig T, Hostoffer RW
Ann Allergy Asthma Immunol 2018 Feb;120(2):200-206. doi: 10.1016/j.anai.2017.11.014. PMID: 29413345
Tran Khai Hoan N, Karmochkine M, Laccourreye O, Bonfils P
Eur Ann Otorhinolaryngol Head Neck Dis 2014 Jun;131(3):171-5. Epub 2014 Apr 5 doi: 10.1016/j.anorl.2013.11.002. PMID: 24709408

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
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Lahmer T, Peçanha-Pietrobom PM, Schmid RM, Colombo AL
Mycoses 2022 Feb;65(2):140-151. Epub 2021 Dec 8 doi: 10.1111/myc.13403. PMID: 34837414
Janssen LMA, van der Flier M, de Vries E
Front Immunol 2021;12:620709. Epub 2021 Mar 23 doi: 10.3389/fimmu.2021.620709. PMID: 33833753Free PMC Article
Grywalska E, Zaborek M, Łyczba J, Hrynkiewicz R, Bębnowska D, Becht R, Sosnowska-Pasiarska B, Smok-Kalwat J, Pasiarski M, Góźdź S, Roliński J, Niedźwiedzka-Rystwej P
Cells 2020 Nov 2;9(11) doi: 10.3390/cells9112398. PMID: 33147729Free PMC Article

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