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Immunoglobulin heavy chain deficiency

MedGen UID:
98309
•Concept ID:
C0398692
•
Disease or Syndrome
Synonyms: immunoglobulin heavy chain deficiency; Immunoglobulin heavy chain deletion; Immunoglobulin Heavy Chain Deletion
SNOMED CT: Immunoglobulin heavy chain deficiency (234539005); Immunoglobulin heavy chain deletion (234539005)
 
Monarch Initiative: MONDO:0015697
Orphanet: ORPHA169110

Definition

A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunoglobulin heavy chain deficiency
Follow this link to review classifications for Immunoglobulin heavy chain deficiency in Orphanet.

Professional guidelines

PubMed

Consensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario.
Tierens A, Stockley TL, Campbell C, Fulcher J, Leber B, McCready E, Sabatini PJB, Sadikovic B, Schuh AC
Curr Oncol 2021 Mar 30;28(2):1376-1387. doi: 10.3390/curroncol28020131. PMID: 33808300Free PMC Article
EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.
van Dongen JJM, van der Burg M, Kalina T, Perez-Andres M, Mejstrikova E, Vlkova M, Lopez-Granados E, Wentink M, Kienzler AK, Philippé J, Sousa AE, van Zelm MC, Blanco E, Orfao A
Front Immunol 2019;10:1271. Epub 2019 Jun 13 doi: 10.3389/fimmu.2019.01271. PMID: 31263462Free PMC Article
Clinical criteria for the diagnosis of vascular dementia.
Loeb C
Eur Neurol 1988;28(2):87-92. doi: 10.1159/000116237. PMID: 3131146

Recent clinical studies

Etiology

Heavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.
Zhang Y, Li X, Liang D, Xu F, Liang S, Zhu X, Zheng N, Huang X, Liu Z, Zeng C
Am J Kidney Dis 2020 May;75(5):736-743. Epub 2019 Nov 5 doi: 10.1053/j.ajkd.2019.08.013. PMID: 31699519
Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies.
Blanco E, Pérez-Andrés M, Arriba-Méndez S, Serrano C, Criado I, Del Pino-Molina L, Silva S, Madruga I, Bakardjieva M, Martins C, Serra-Caetano A, Romero A, Contreras-Sanfeliciano T, Bonroy C, Sala F, Martín A, Bastida JM, Lorente F, Prieto C, Dávila I, Marcos M, Kalina T, Vlkova M, Chovancova Z, Cordeiro AI, Philippé J, Haerynck F, López-Granados E, Sousa AE, van der Burg M, van Dongen JJM, Orfao A; EuroFlow PID group
J Allergy Clin Immunol 2019 Sep;144(3):809-824. Epub 2019 Feb 28 doi: 10.1016/j.jaci.2019.02.017. PMID: 30826363
Human immunoglobulin constant heavy G chain (IGHG) (Fcγ) (GM) genes, defining innate variants of IgG molecules and B cells, have impact on disease and therapy.
Oxelius VA, Pandey JP
Clin Immunol 2013 Dec;149(3):475-86. Epub 2013 Oct 19 doi: 10.1016/j.clim.2013.10.003. PMID: 24239836
Genetic aspects of immunoglobulin A deficiency.
Cunningham-Rundles C
Adv Hum Genet 1990;19:235-66. doi: 10.1007/978-1-4757-9065-8_4. PMID: 2193490
Monoclonal gammopathies in children.
Gerritsen E, Vossen J, van Tol M, Jol-van der Zijde C, Van der Weijden-Ragas R, Radl J
J Clin Immunol 1989 Jul;9(4):296-305. doi: 10.1007/BF00918661. PMID: 2504763

Diagnosis

Two pediatric oncologic cases of hypereosinophilic syndrome and review of the literature.
Voeller J, DeNapoli T, Griffin TC
Cancer Rep (Hoboken) 2022 Nov;5(11):e1710. Epub 2022 Oct 14 doi: 10.1002/cnr2.1710. PMID: 36241191Free PMC Article
Heavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.
Zhang Y, Li X, Liang D, Xu F, Liang S, Zhu X, Zheng N, Huang X, Liu Z, Zeng C
Am J Kidney Dis 2020 May;75(5):736-743. Epub 2019 Nov 5 doi: 10.1053/j.ajkd.2019.08.013. PMID: 31699519
Immunoglobulin A nephropathy: a pathophysiology view.
Fabiano RC, Pinheiro SV, Simões E Silva AC
Inflamm Res 2016 Oct;65(10):757-70. Epub 2016 Jun 28 doi: 10.1007/s00011-016-0962-x. PMID: 27351940
Immunoglobulin deficiency syndromes and therapy.
Huston DP, Kavanaugh AF, Rohane PW, Huston MM
J Allergy Clin Immunol 1991 Jan;87(1 Pt 1):1-17. doi: 10.1016/0091-6749(91)90203-z. PMID: 1704022
Clinical criteria for the diagnosis of vascular dementia.
Loeb C
Eur Neurol 1988;28(2):87-92. doi: 10.1159/000116237. PMID: 3131146

Therapy

Pozelimab: First Approval.
Hoy SM
Drugs 2023 Nov;83(16):1551-1557. doi: 10.1007/s40265-023-01955-9. PMID: 37856038
The transcriptional regulator NFIL3 controls IgE production.
Rothman PB
Trans Am Clin Climatol Assoc 2010;121:156-71; discussion 171. PMID: 20697558Free PMC Article
Molecular basis of pathogenesis, prognosis and therapy in chronic lymphocytic leukaemia.
Chen J, McMillan NA
Cancer Biol Ther 2008 Feb;7(2):174-9. Epub 2007 Nov 3 doi: 10.4161/cbt.7.2.5262. PMID: 18059180
Immunoglobulin gamma3-heavy-chain deposition disease: report of a case and relationship with hypocomplementemia.
Soma J, Sato K, Sakuma T, Saito H, Sato H, Sato T, Abbas A, Aucouturier P
Am J Kidney Dis 2004 Jan;43(1):E10-6. doi: 10.1053/j.ajkd.2003.09.024. PMID: 14712467
Immunoglobulin deficiency syndromes and therapy.
Huston DP, Kavanaugh AF, Rohane PW, Huston MM
J Allergy Clin Immunol 1991 Jan;87(1 Pt 1):1-17. doi: 10.1016/0091-6749(91)90203-z. PMID: 1704022

Prognosis

Heavy Chain Deposition Disease: Clinicopathologic Characteristics of a Chinese Case Series.
Zhang Y, Li X, Liang D, Xu F, Liang S, Zhu X, Zheng N, Huang X, Liu Z, Zeng C
Am J Kidney Dis 2020 May;75(5):736-743. Epub 2019 Nov 5 doi: 10.1053/j.ajkd.2019.08.013. PMID: 31699519
Human immunoglobulin constant heavy G chain (IGHG) (Fcγ) (GM) genes, defining innate variants of IgG molecules and B cells, have impact on disease and therapy.
Oxelius VA, Pandey JP
Clin Immunol 2013 Dec;149(3):475-86. Epub 2013 Oct 19 doi: 10.1016/j.clim.2013.10.003. PMID: 24239836
Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta.
Lougaris V, Ferrari S, Cattalini M, Soresina A, Plebani A
Curr Allergy Asthma Rep 2008 Sep;8(5):404-8. doi: 10.1007/s11882-008-0078-7. PMID: 18682105
Molecular basis of pathogenesis, prognosis and therapy in chronic lymphocytic leukaemia.
Chen J, McMillan NA
Cancer Biol Ther 2008 Feb;7(2):174-9. Epub 2007 Nov 3 doi: 10.4161/cbt.7.2.5262. PMID: 18059180
Immunoglobulin gamma3-heavy-chain deposition disease: report of a case and relationship with hypocomplementemia.
Soma J, Sato K, Sakuma T, Saito H, Sato H, Sato T, Abbas A, Aucouturier P
Am J Kidney Dis 2004 Jan;43(1):E10-6. doi: 10.1053/j.ajkd.2003.09.024. PMID: 14712467

Clinical prediction guides

RNA exosome drives early B cell development via noncoding RNA processing mechanisms.
Laffleur B, Batista CR, Zhang W, Lim J, Yang B, Rossille D, Wu L, Estrella J, Rothschild G, Pefanis E, Basu U
Sci Immunol 2022 Jun 3;7(72):eabn2738. doi: 10.1126/sciimmunol.abn2738. PMID: 35658015Free PMC Article
Immunoglobulin G subclass deficiency: fact or fancy?
Buckley RH
Curr Allergy Asthma Rep 2002 Sep;2(5):356-60. doi: 10.1007/s11882-002-0067-1. PMID: 12165200
Biosynthesis, assembly and secretion of coagulation factor VIII.
Kaufman RJ, Pipe SW, Tagliavacca L, Swaroop M, Moussalli M
Blood Coagul Fibrinolysis 1997 Dec;8 Suppl 2:S3-14. PMID: 9607108
Human antibodies from transgenic mice.
Lonberg N, Huszar D
Int Rev Immunol 1995;13(1):65-93. doi: 10.3109/08830189509061738. PMID: 7494109
Clinical criteria for the diagnosis of vascular dementia.
Loeb C
Eur Neurol 1988;28(2):87-92. doi: 10.1159/000116237. PMID: 3131146

Recent systematic reviews

Prognostic models for newly-diagnosed chronic lymphocytic leukaemia in adults: a systematic review and meta-analysis.
Kreuzberger N, Damen JA, Trivella M, Estcourt LJ, Aldin A, Umlauff L, Vazquez-Montes MD, Wolff R, Moons KG, Monsef I, Foroutan F, Kreuzer KA, Skoetz N
Cochrane Database Syst Rev 2020 Jul 31;7(7):CD012022. doi: 10.1002/14651858.CD012022.pub2. PMID: 32735048Free PMC Article

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