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Selective IgM deficiency

MedGen UID:
57820
•Concept ID:
C0154275
•
Pathologic Function
Synonyms: selective IgM deficiency; selective IgM deficiency disease; Selective IgM immunodeficiency; Selective IgM Immunodeficiency; Selective immunoglobulin M deficiency; selective immunoglobulin M deficiency; SIgMD
SNOMED CT: Selective IgM immunodeficiency (190980000); Selective immunoglobulin M deficiency (190980000)
 
Monarch Initiative: MONDO:0018039
Orphanet: ORPHA331235

Definition

A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSelective IgM deficiency

Professional guidelines

PubMed

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
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
Primary Antibody Deficiency in a Tertiary Referral Hospital: A 30-Year Experiment.
Mohammadinejad P, Pourhamdi S, Abolhassani H, Mirminachi B, Havaei A, Masoom SN, Sadeghi B, Ghajar A, Afarideh M, Parvaneh N, Mirsaeed-Ghazi B, Movahedi M, Gharagozlou M, Chavoushzadeh Z, Mahdaviani A, Zandieh F, Sherkat R, Sadeghi-Shabestari M, Faridhosseini R, Jabbari-Azad F, Ahanchian H, Zandkarimi M, Cherghi T, Fayezi A, Mohammadzadeh I, Amin R, Aleyasin S, Moghtaderi M, Ghaffari J, Bemanian M, Shafiei A, Kalantari N, Ahmadiafshar A, Khazaei HA, Mohammadi J, Nabavi M, Rezaei N, Aghamohammadi A
J Investig Allergol Clin Immunol 2015;25(6):416-25. PMID: 26817138
Does the frequency of respiratory tract infections help to identify humoral immunodeficiencies in a primary health-care cohort?
Wågström P, Bengnér M, Dahle C, Nilsdotter-Augustinsson Å, Neumark T, Brudin L, Björkander J
Infect Dis (Lond) 2015 Jan;47(1):13-9. Epub 2014 Nov 7 doi: 10.3109/00365548.2014.956330. PMID: 25378084

Recent clinical studies

Etiology

Clinical and immunological phenotypes of selective IgM deficiency in children: Results from a multicenter study.
Castagnoli R, Taietti I, Votto M, Naso M, De Filippo M, Marseglia A, Montagna L, De Amici M, Avanzini MA, Montagna D, Marseglia GL, Licari A; Italian Primary Immunodeficiency NETwork (IPINET)
Pediatr Allergy Immunol 2023 Sep;34(9):e14015. doi: 10.1111/pai.14015. PMID: 37728524
Selective IgM deficiency: Follow-up and outcome.
Caka C, Cimen O, Kahyaoğlu P, Tezcan İ, Cagdas D
Pediatr Allergy Immunol 2021 Aug;32(6):1327-1334. Epub 2021 Mar 29 doi: 10.1111/pai.13497. PMID: 33706406
Update on Infections in Primary Antibody Deficiencies.
Demirdag YY, Gupta S
Front Immunol 2021;12:634181. Epub 2021 Feb 11 doi: 10.3389/fimmu.2021.634181. PMID: 33643318Free PMC Article
Truly selective primary IgM deficiency is probably very rare.
Janssen LMA, Macken T, Creemers MCW, Pruijt JFM, Eijk JJJ, de Vries E
Clin Exp Immunol 2018 Feb;191(2):203-211. Epub 2017 Oct 27 doi: 10.1111/cei.13065. PMID: 28984901Free PMC Article
Selective IgM Deficiency: Clinical and Laboratory Features of 17 Patients and a Review of the Literature.
Chovancova Z, Kralickova P, Pejchalova A, Bloomfield M, Nechvatalova J, Vlkova M, Litzman J
J Clin Immunol 2017 Aug;37(6):559-574. Epub 2017 Jul 21 doi: 10.1007/s10875-017-0420-8. PMID: 28730517

Diagnosis

Clinical and immunological phenotypes of selective IgM deficiency in children: Results from a multicenter study.
Castagnoli R, Taietti I, Votto M, Naso M, De Filippo M, Marseglia A, Montagna L, De Amici M, Avanzini MA, Montagna D, Marseglia GL, Licari A; Italian Primary Immunodeficiency NETwork (IPINET)
Pediatr Allergy Immunol 2023 Sep;34(9):e14015. doi: 10.1111/pai.14015. PMID: 37728524
Selective IgM deficiency: Follow-up and outcome.
Caka C, Cimen O, Kahyaoğlu P, Tezcan İ, Cagdas D
Pediatr Allergy Immunol 2021 Aug;32(6):1327-1334. Epub 2021 Mar 29 doi: 10.1111/pai.13497. PMID: 33706406
Update on Infections in Primary Antibody Deficiencies.
Demirdag YY, Gupta S
Front Immunol 2021;12:634181. Epub 2021 Feb 11 doi: 10.3389/fimmu.2021.634181. PMID: 33643318Free PMC Article
Truly selective primary IgM deficiency is probably very rare.
Janssen LMA, Macken T, Creemers MCW, Pruijt JFM, Eijk JJJ, de Vries E
Clin Exp Immunol 2018 Feb;191(2):203-211. Epub 2017 Oct 27 doi: 10.1111/cei.13065. PMID: 28984901Free PMC Article
Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg?
Giorgio F, Principi M, Losurdo G, Piscitelli D, Iannone A, Barone M, Amoruso A, Ierardi E, Di Leo A
Nutrients 2015 Sep 8;7(9):7486-504. doi: 10.3390/nu7095350. PMID: 26371035Free PMC Article

Therapy

FcμR in human B cell subsets in primary selective IgM deficiency, and regulation of FcμR and production of natural IgM antibodies by IGIV.
Gupta S, Agrawal S, Gollapudi S, Kubagawa H
Hum Immunol 2016 Dec;77(12):1194-1201. Epub 2016 Oct 14 doi: 10.1016/j.humimm.2016.10.003. PMID: 27751883Free PMC Article
Selective immunoglobulin M deficiency in an adult with miliary tuberculosis: A clinically interesting coexistence. A case report and review of the literature.
Hassanein HA, Elbadry MI
Int J Mycobacteriol 2016 Mar;5(1):106-10. Epub 2015 Dec 7 doi: 10.1016/j.ijmyco.2015.11.002. PMID: 26928000
Selective immunoglobulin M deficiency presenting with recurrent impetigo: a case report and review of the literature.
Belgemen T, Suskan E, Dogu F, Ikinciogullari A
Int Arch Allergy Immunol 2009;149(3):283-8. Epub 2009 Feb 12 doi: 10.1159/000199725. PMID: 19218822
Chronic recurrent multifocal osteomyelitis in a patient with selective immunoglobulin M deficiency.
Makay B, Unsal E, Anal O, Güneş D, Men S, Cakmakçi H, Ozer E
Rheumatol Int 2009 May;29(7):811-5. Epub 2008 Nov 26 doi: 10.1007/s00296-008-0788-0. PMID: 19034453
Selective IgM deficiency: functional assessment of peripheral blood lymphocytes in vitro.
Yamasaki T
Intern Med 1992 Jul;31(7):866-70. doi: 10.2169/internalmedicine.31.866. PMID: 1450494

Prognosis

Protocol for the unclassified primary antibody deficiency (unPAD) study: Characterization and classification of patients using the ESID online Registry.
Janssen LMA, Reijnen ICGM, Milito C, Edgar D, Chapel H, de Vries E; unPAD consortium
PLoS One 2022;17(3):e0266083. Epub 2022 Mar 25 doi: 10.1371/journal.pone.0266083. PMID: 35333892Free PMC Article
Selective IgM deficiency: Follow-up and outcome.
Caka C, Cimen O, Kahyaoğlu P, Tezcan İ, Cagdas D
Pediatr Allergy Immunol 2021 Aug;32(6):1327-1334. Epub 2021 Mar 29 doi: 10.1111/pai.13497. PMID: 33706406
Update on Infections in Primary Antibody Deficiencies.
Demirdag YY, Gupta S
Front Immunol 2021;12:634181. Epub 2021 Feb 11 doi: 10.3389/fimmu.2021.634181. PMID: 33643318Free PMC Article
Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg?
Giorgio F, Principi M, Losurdo G, Piscitelli D, Iannone A, Barone M, Amoruso A, Ierardi E, Di Leo A
Nutrients 2015 Sep 8;7(9):7486-504. doi: 10.3390/nu7095350. PMID: 26371035Free PMC Article
Paediatric selective IgM deficiency and IgG4 deficiency: an extremely unusual association.
Bolia R, Misra DP, Aggarwal A, Srivastava A
BMJ Case Rep 2014 Sep 1;2014 doi: 10.1136/bcr-2014-204769. PMID: 25178890Free PMC Article

Clinical prediction guides

Phenotypic analysis of T follicular helper and T follicular regulatory cells in primary selective IgM deficiency.
Kasahara TM, Bento CAM, Gupta S
Hum Immunol 2020 Oct-Nov;81(10-11):625-633. Epub 2020 Aug 7 doi: 10.1016/j.humimm.2020.07.008. PMID: 32773096
Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg?
Giorgio F, Principi M, Losurdo G, Piscitelli D, Iannone A, Barone M, Amoruso A, Ierardi E, Di Leo A
Nutrients 2015 Sep 8;7(9):7486-504. doi: 10.3390/nu7095350. PMID: 26371035Free PMC Article
Altered B-cell subsets and functional B-cell defects in selective IgM deficiency.
Mensen A, Krause T, Hanitsch LG, Meisel C, Kleint ME, Volk HD, Na IK, Scheibenbogen C
Clin Immunol 2015 Dec;161(2):96-102. Epub 2015 Sep 3 doi: 10.1016/j.clim.2015.08.017. PMID: 26342539
Primary selective IgM deficiency: an ignored immunodeficiency.
Louis AG, Gupta S
Clin Rev Allergy Immunol 2014 Apr;46(2):104-11. doi: 10.1007/s12016-013-8375-x. PMID: 23760686
Selective IgM deficiency in adults: phenotypically and functionally altered profiles of peripheral blood lymphocytes.
Ohno T, Inaba M, Kuribayashi K, Masuda T, Kanoh T, Uchino H
Clin Exp Immunol 1987 Jun;68(3):630-7. PMID: 2958191Free PMC Article

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