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Selective IgD deficiency disease

MedGen UID:
96021
•Concept ID:
C0398695
•
Disease or Syndrome
Synonyms: Selective IgD deficiency; selective IgD deficiency disease; Selective IgD Immunodeficiency; selective IgD immunodeficiency; Selective immunoglobulin D deficiency; selective immunoglobulin D deficiency
SNOMED CT: Selective immunoglobulin D deficiency (234541006); Selective IgD deficiency (234541006)
 
Monarch Initiative: MONDO:0004165

Definition

A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSelective IgD deficiency disease

Professional guidelines

PubMed

IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.
Malcova H, Strizova Z, Milota T, Striz I, Sediva A, Cebecauerova D, Horvath R
Front Immunol 2020;11:619257. Epub 2021 Feb 1 doi: 10.3389/fimmu.2020.619257. PMID: 33603750Free PMC Article
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D
Rheumatol Int 2013 Dec;33(12):3039-42. Epub 2012 Dec 13 doi: 10.1007/s00296-012-2577-z. PMID: 23239036
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH, Schneiders MS, Koster J, Waterham HR
Hum Mutat 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361. PMID: 16835861

Recent clinical studies

Etiology

IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.
Malcova H, Strizova Z, Milota T, Striz I, Sediva A, Cebecauerova D, Horvath R
Front Immunol 2020;11:619257. Epub 2021 Feb 1 doi: 10.3389/fimmu.2020.619257. PMID: 33603750Free PMC Article
Micro-CT assessment of dental mineralization defects indicative of vitamin D deficiency in two 17th-19th century Dutch communities.
Veselka B, Brickley MB, D'Ortenzio L, Kahlon B, Hoogland MLP, Waters-Rist AL
Am J Phys Anthropol 2019 May;169(1):122-131. Epub 2019 Mar 18 doi: 10.1002/ajpa.23819. PMID: 30882907Free PMC Article
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D
Rheumatol Int 2013 Dec;33(12):3039-42. Epub 2012 Dec 13 doi: 10.1007/s00296-012-2577-z. PMID: 23239036
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH, Schneiders MS, Koster J, Waterham HR
Hum Mutat 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361. PMID: 16835861
Serum IgD and IgE concentrations in immunodeficiency diseases.
Buckley RH, Fiscus SA
J Clin Invest 1975 Jan;55(1):157-65. doi: 10.1172/JCI107906. PMID: 803218Free PMC Article

Diagnosis

Vitamin D status in post-medieval Northern England: Insights from dental histology and enamel peptide analysis at Coach Lane, North Shields (AD 1711-1857).
Snoddy AME, Shaw H, Newman S, Miszkiewicz JJ, Stewart NA, Jakob T, Buckley H, Caffell A, Gowland R
PLoS One 2024;19(1):e0296203. Epub 2024 Jan 31 doi: 10.1371/journal.pone.0296203. PMID: 38295005Free PMC Article
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D
Rheumatol Int 2013 Dec;33(12):3039-42. Epub 2012 Dec 13 doi: 10.1007/s00296-012-2577-z. PMID: 23239036
Primary immunodeficiencies of the B lymphocyte.
Moise A, Nedelcu FD, Toader MA, Sora SM, Tica A, Ferastraoaru DE, Constantinescu I
J Med Life 2010 Jan-Mar;3(1):60-3. PMID: 20302197Free PMC Article
Common variable immunodeficiency. Old questions are getting clearer.
Blanco-Quirós A, Solís-Sánchez P, Garrote-Adrados JA, Arranz-Sanz E
Allergol Immunopathol (Madr) 2006 Nov-Dec;34(6):263-75. doi: 10.1157/13095875. PMID: 17173844
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH, Schneiders MS, Koster J, Waterham HR
Hum Mutat 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361. PMID: 16835861

Therapy

IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.
Malcova H, Strizova Z, Milota T, Striz I, Sediva A, Cebecauerova D, Horvath R
Front Immunol 2020;11:619257. Epub 2021 Feb 1 doi: 10.3389/fimmu.2020.619257. PMID: 33603750Free PMC Article
Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease.
Cotugno N, Finocchi A, Cagigi A, Di Matteo G, Chiriaco M, Di Cesare S, Rossi P, Aiuti A, Palma P, Douagi I
J Allergy Clin Immunol 2015 Mar;135(3):753-61.e2. Epub 2014 Aug 29 doi: 10.1016/j.jaci.2014.07.012. PMID: 25175493
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
van der Hilst JCH, Bodar EJ, Barron KS, Frenkel J, Drenth JPH, van der Meer JWM, Simon A; International HIDS Study Group
Medicine (Baltimore) 2008 Nov;87(6):301-310. doi: 10.1097/MD.0b013e318190cfb7. PMID: 19011501
Common variable immunodeficiency. Old questions are getting clearer.
Blanco-Quirós A, Solís-Sánchez P, Garrote-Adrados JA, Arranz-Sanz E
Allergol Immunopathol (Madr) 2006 Nov-Dec;34(6):263-75. doi: 10.1157/13095875. PMID: 17173844

Prognosis

Analysis of switched memory B cells in patients with IgA deficiency.
Aghamohammadi A, Abolhassani H, Biglari M, Abolmaali S, Moazzami K, Tabatabaeiyan M, Asgarian-Omran H, Parvaneh N, Mirahmadian M, Rezaei N
Int Arch Allergy Immunol 2011;156(4):462-8. Epub 2011 Aug 10 doi: 10.1159/000323903. PMID: 21832837
Primary immunodeficiencies of the B lymphocyte.
Moise A, Nedelcu FD, Toader MA, Sora SM, Tica A, Ferastraoaru DE, Constantinescu I
J Med Life 2010 Jan-Mar;3(1):60-3. PMID: 20302197Free PMC Article
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
van der Hilst JCH, Bodar EJ, Barron KS, Frenkel J, Drenth JPH, van der Meer JWM, Simon A; International HIDS Study Group
Medicine (Baltimore) 2008 Nov;87(6):301-310. doi: 10.1097/MD.0b013e318190cfb7. PMID: 19011501
Common variable immunodeficiency. Old questions are getting clearer.
Blanco-Quirós A, Solís-Sánchez P, Garrote-Adrados JA, Arranz-Sanz E
Allergol Immunopathol (Madr) 2006 Nov-Dec;34(6):263-75. doi: 10.1157/13095875. PMID: 17173844

Clinical prediction guides

Micro-CT assessment of dental mineralization defects indicative of vitamin D deficiency in two 17th-19th century Dutch communities.
Veselka B, Brickley MB, D'Ortenzio L, Kahlon B, Hoogland MLP, Waters-Rist AL
Am J Phys Anthropol 2019 May;169(1):122-131. Epub 2019 Mar 18 doi: 10.1002/ajpa.23819. PMID: 30882907Free PMC Article
Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease.
Cotugno N, Finocchi A, Cagigi A, Di Matteo G, Chiriaco M, Di Cesare S, Rossi P, Aiuti A, Palma P, Douagi I
J Allergy Clin Immunol 2015 Mar;135(3):753-61.e2. Epub 2014 Aug 29 doi: 10.1016/j.jaci.2014.07.012. PMID: 25175493
T and B lymphocyte subpopulations and activation/differentiation markers in patients with selective IgA deficiency.
Litzman J, Vlková M, Pikulová Z, Stikarovská D, Lokaj J
Clin Exp Immunol 2007 Feb;147(2):249-54. doi: 10.1111/j.1365-2249.2006.03274.x. PMID: 17223965Free PMC Article
The role of humoral mucosal immunity in the induction and maintenance of chronic airway infections.
Brandtzaeg P
Am J Respir Crit Care Med 1995 Jun;151(6):2081-6; discussion 2086-7. doi: 10.1164/ajrccm.151.6.7767561. PMID: 7767561
Significance of different J chain profiles in human tissues: generation of IgA and IgM with binding site for secretory component is related to the J chain expressing capacity of the total local immunocyte population, including IgG and IgD producing cells, and depends on the clinical state of the tissue.
Brandtzaeg P, Korsrud FR
Clin Exp Immunol 1984 Dec;58(3):709-18. PMID: 6439452Free PMC Article

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