Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain
Disseminated Intravascular Coagulopathy in Immunoglobulin Heavy Chain deficiency
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Abstract
Although the majority of monogenic defects underlying primary immunodeficiency are microlesions, large lesions like large deletions are rare and constitute less than 10% of these patients. The immunoglobulin heavy chain (IGH) locus is one of the common regions for such genetic alterations. This study describes a rare case of autosomal recessive agammaglobulinemia with a homozygous large deletion in chromosome 14q32.33 (106067756-106237742) immunoglobulin heavy chain clusters with an unusual and severe skin infection and disseminated intravascular coagulopathy.
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2. Lougaris V, Vitali M, Baronio M, Moratto D, Tampella G, Biasini A, et al. Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation. J Clin Immunol. 2014;34(4):425-7.
3. Khalili A, Plebani A, Vitali M, Abolhassani H, Lougaris V, Mirminachi B, et al. Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. J Clin Immunol. 2014;34(2):138-41.
4. Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trübel H, Pachman LM, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. New Eng J Med. 1996;335(20):1486-93.
5. Brusco A, Cariota U, Bottaro A, Boccazzi C, Plebani A, Ugazio AG, et al. Variability of the immunoglobulin heavy chain constant region locus: a population study. Hum Gen. 1995;95(3):319-26.
6. Abolhassani H, Aghamohammadi A, Fang M, Rezaei N, Jiang C, Liu X, et al. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet Med. 2019;21(1):243-51.
7. Abolhassani H, Hammarstrom L, Cunningham-Rundles C. Current genetic landscape in common variable immune deficiency. Blood. 2020;135(9):656-67.
8. Bagheri Y, Vosughi A, Azizi G, Yazdani R, Hafezi N, Alimorad S, et al. Comparison of clinical and immunological features and mortality in common variable immunodeficiency and agammaglobulinemia patients. Immun lett. 2019;210(6):55-62.
9. Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, et al. Evaluation of respiratory complications in patients with X‐linked and autosomal recessive agammaglobulinemia. Ped Allergy Immunol. 2020;31(4):405-17.
10. Pashangzadeh S, Yazdani R, Nazari F, Azizi G, Abolhassani H, Aghamohammadi A. Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management. Endocrine, Metabolic & Immune Disorders-Drug Targets (Formerly Current Drug Targets-Immune, Endocrine & Metabolic Disorders). 2020;20(9):1434-47.
11. Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatrics. 2002;141(4):566-71.
12. Granados EL, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, et al. Clinical and molecular analysis of patients with defects in μ heavy chain gene. J Clin Invest. 2002;110(7):1029-35.
13. van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, et al. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Am J Hum Genet. 2008;82(2):320-32.
14. Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, et al. Cohort of Iranian patients with congenital agammaglobulinemia: mutation analysis and novel gene defects. Expert Rev Clin Immunol. 2016;12(4):479-86.
15. Mohsenzadeh A, Yazdani R, Abolhassani H, Kiaee F. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. J Allergy Clin Immunol Pract. 2019;7(3):864-878.
16. Lopez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, et al. Clinical and molecular analysis of patients with defects in micro heavy chain gene. J Clin Invest. 2002;110(7):1029-35.
17. Milili M, Antunes H, Blanco-Betancourt C, Nogueiras A, Santos E, Vasconcelos J, et al. A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur J Pediatr. 2002;161(9):479-84.
18. Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med. 1996;335(20):1486-93.
19. Yazdani R, Abolhassani H, Kiaee F, Habibi S, Azizi G, Tavakol M, et al. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. JAllergy Clin Immunol. 2019;7(3):864-78.
20. Lefranc G, Chaabani H, Van Loghem E, Lefranc MP, De Lange G, Helal AN. Simultaneous absence of the human IgG1, IgG2, IgG4 and IgA1 subclasses: immunological and immunogenetical considerations. Europ Journal Immunol. 1983;13(3):240-4.
21. Lefranc MP, Lefranc G, Rabbitts TH. Inherited deletion of immunoglobulin heavy chain constant region genes in normal human individuals. Nature. 1982;300(5894):760-2.
2. Lougaris V, Vitali M, Baronio M, Moratto D, Tampella G, Biasini A, et al. Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation. J Clin Immunol. 2014;34(4):425-7.
3. Khalili A, Plebani A, Vitali M, Abolhassani H, Lougaris V, Mirminachi B, et al. Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. J Clin Immunol. 2014;34(2):138-41.
4. Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trübel H, Pachman LM, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. New Eng J Med. 1996;335(20):1486-93.
5. Brusco A, Cariota U, Bottaro A, Boccazzi C, Plebani A, Ugazio AG, et al. Variability of the immunoglobulin heavy chain constant region locus: a population study. Hum Gen. 1995;95(3):319-26.
6. Abolhassani H, Aghamohammadi A, Fang M, Rezaei N, Jiang C, Liu X, et al. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet Med. 2019;21(1):243-51.
7. Abolhassani H, Hammarstrom L, Cunningham-Rundles C. Current genetic landscape in common variable immune deficiency. Blood. 2020;135(9):656-67.
8. Bagheri Y, Vosughi A, Azizi G, Yazdani R, Hafezi N, Alimorad S, et al. Comparison of clinical and immunological features and mortality in common variable immunodeficiency and agammaglobulinemia patients. Immun lett. 2019;210(6):55-62.
9. Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, et al. Evaluation of respiratory complications in patients with X‐linked and autosomal recessive agammaglobulinemia. Ped Allergy Immunol. 2020;31(4):405-17.
10. Pashangzadeh S, Yazdani R, Nazari F, Azizi G, Abolhassani H, Aghamohammadi A. Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management. Endocrine, Metabolic & Immune Disorders-Drug Targets (Formerly Current Drug Targets-Immune, Endocrine & Metabolic Disorders). 2020;20(9):1434-47.
11. Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatrics. 2002;141(4):566-71.
12. Granados EL, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, et al. Clinical and molecular analysis of patients with defects in μ heavy chain gene. J Clin Invest. 2002;110(7):1029-35.
13. van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C, et al. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Am J Hum Genet. 2008;82(2):320-32.
14. Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, et al. Cohort of Iranian patients with congenital agammaglobulinemia: mutation analysis and novel gene defects. Expert Rev Clin Immunol. 2016;12(4):479-86.
15. Mohsenzadeh A, Yazdani R, Abolhassani H, Kiaee F. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. J Allergy Clin Immunol Pract. 2019;7(3):864-878.
16. Lopez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, et al. Clinical and molecular analysis of patients with defects in micro heavy chain gene. J Clin Invest. 2002;110(7):1029-35.
17. Milili M, Antunes H, Blanco-Betancourt C, Nogueiras A, Santos E, Vasconcelos J, et al. A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur J Pediatr. 2002;161(9):479-84.
18. Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med. 1996;335(20):1486-93.
19. Yazdani R, Abolhassani H, Kiaee F, Habibi S, Azizi G, Tavakol M, et al. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. JAllergy Clin Immunol. 2019;7(3):864-78.
20. Lefranc G, Chaabani H, Van Loghem E, Lefranc MP, De Lange G, Helal AN. Simultaneous absence of the human IgG1, IgG2, IgG4 and IgA1 subclasses: immunological and immunogenetical considerations. Europ Journal Immunol. 1983;13(3):240-4.
21. Lefranc MP, Lefranc G, Rabbitts TH. Inherited deletion of immunoglobulin heavy chain constant region genes in normal human individuals. Nature. 1982;300(5894):760-2.
| Files | ||
| Issue | Vol 20 No 6 (2021) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijaai.v20i6.8030 | |
| Keywords | ||
| Agammaglobulinemia Disseminated intravascular coagulation Immunoglobulin mu-chain Primary immunodeficiency diseases | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Khalili A, Yadegari AH, Delavari S, Yazdani R, Abolhassani H. Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain. Iran J Allergy Asthma Immunol. 2021;20(6):778-783.
