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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

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
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD
J Allergy Clin Immunol 2014 Apr;133(4):1099-108. Epub 2013 Nov 28 doi: 10.1016/j.jaci.2013.10.007. PMID: 24290284Free 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
B cell development in chromosome 22q11.2 deletion syndrome.
Derfalvi B, Maurer K, McDonald McGinn DM, Zackai E, Meng W, Luning Prak ET, Sullivan KE
Clin Immunol 2016 Feb;163:1-9. Epub 2015 Dec 10 doi: 10.1016/j.clim.2015.12.004. PMID: 26689329
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

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
IgA kappa light and heavy chain deposition disease in multiple myeloma.
Sannier A, Hanouna G, Daugas E, Vrtovsnik F, Goujon JM, Chemouny JM
Br J Haematol 2018 Oct;183(1):13. Epub 2018 May 29 doi: 10.1111/bjh.15420. PMID: 29808912
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
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD
J Allergy Clin Immunol 2014 Apr;133(4):1099-108. Epub 2013 Nov 28 doi: 10.1016/j.jaci.2013.10.007. PMID: 24290284Free PMC Article
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

Therapy

BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL.
Gothwal SK, Refaat AM, Nakata M, Stanlie A, Honjo T, Begum NA
Nucleic Acids Res 2024 May 8;52(8):4422-4439. doi: 10.1093/nar/gkae204. PMID: 38567724Free PMC Article
Pozelimab: First Approval.
Hoy SM
Drugs 2023 Nov;83(16):1551-1557. doi: 10.1007/s40265-023-01955-9. PMID: 37856038
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 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
IgG subclass composition of intravenous immunoglobulin preparations: clinical relevance.
Heiner DC
Rev Infect Dis 1986 Jul-Aug;8 Suppl 4:S391-5. doi: 10.1093/clinids/8.supplement_4.s391. PMID: 3092305

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
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

Clinical prediction guides

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
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
Human immunoglobulin heavy-chain multigene deletions in healthy individuals.
Lefranc MP, Lefranc G
FEBS Lett 1987 Mar 23;213(2):231-7. doi: 10.1016/0014-5793(87)81496-5. PMID: 3104087
Complement-immunoglobulin relation: deficiency of C'1q associated with impaired immunoglobulin G synthesis.
Kohler PF, Müller-Eberhard HJ
Science 1969 Jan 31;163(3866):474-5. doi: 10.1126/science.163.3866.474. PMID: 4973792

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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