Primary Immunodeficiency Diseases Associated with Neurologic Manifestations

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2011 Nov 1

PMID 22038677

Citations 11

Authors

Soodabeh Fazeli Dehkordy

Asghar Aghamohammadi

Hans D Ochs

Nima Rezaei

Affiliations

Soon will be listed here.

Abstract

Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders of the immune system, predisposing individuals to recurrent infections, allergy, autoimmunity, and malignancies. A considerable number of these conditions have been found to be also associated with neurologic signs and symptoms. These manifestations are considered core features of some immunodeficiency syndromes, such as ataxia-telangiectasia and purine nucleoside phosphorylase deficiency, or occur less prominently in some others. Diverse pathological mechanisms including defective responses to DNA damage, metabolic errors, and autoimmune phenomena have been associated with neurologic abnormalities; however, several issues remain to be elucidated. Greater awareness of these associated features and gaining a better understanding of the contributing mechanisms will lead to prompt diagnosis and treatment and possibly development of novel preventive and therapeutic strategies. In this review, we aim to provide a brief description of the clinical and genetic characteristics of PID associated with neurologic complications.

Citing Articles

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis.

Cavone F, Cappelli S, Bonuccelli A, DElios S, Costagliola G, Peroni D J Clin Med. 2023; 12(18).

PMID: 37762981 PMC: 10531840. DOI: 10.3390/jcm12186041.

Self-reported cognitive impairment in individuals with Primary Immunodeficiency Disease.

Sowers K, Gayda-Chelder C, Galantino M Brain Behav Immun Health. 2021; 9:100170.

PMID: 34589905 PMC: 8474660. DOI: 10.1016/j.bbih.2020.100170.

Primary immunodeficiency diseases treated with immunoglobulin and associated comorbidities.

Dilley M, Wangberg H, Noone J, Geng B Allergy Asthma Proc. 2021; 42(1):78-86.

PMID: 33404391 PMC: 7768070. DOI: 10.2500/aap.2021.42.200113.

The Broad Clinical Spectrum and Transplant Results of PNP Deficiency.

Schejter Y, Even-Or E, Shadur B, NaserEddin A, Stepensky P, Zaidman I J Clin Immunol. 2019; 40(1):123-130.

PMID: 31707514 DOI: 10.1007/s10875-019-00698-1.

Neurological Manifestations of Primary Immunodeficiencies.

Chavoshzadeh Z, Hashemitari A, Darougar S Iran J Child Neurol. 2018; 12(3):7-23.

PMID: 30026765 PMC: 6045935.

References

Quan P, Wagner T, Briese T, Torgerson T, Hornig M, Tashmukhamedova A . Astrovirus encephalitis in boy with X-linked agammaglobulinemia. Emerg Infect Dis. 2010; 16(6):918-25. PMC: 4102142. DOI: 10.3201/eid1606.091536. View

Kobrynski L, Sullivan K . Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007; 370(9596):1443-52. DOI: 10.1016/S0140-6736(07)61601-8. View

Digweed M, Sperling K . Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst). 2004; 3(8-9):1207-17. DOI: 10.1016/j.dnarep.2004.03.004. View

Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint Basile G, Blanche S . Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood. 2005; 106(1):40-2. DOI: 10.1182/blood-2005-01-0319. View

Tondeleir D, Vandamme D, Vandekerckhove J, Ampe C, Lambrechts A . Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models. Cell Motil Cytoskeleton. 2009; 66(10):798-815. DOI: 10.1002/cm.20350. View

Hoffman H, Wanderer A . Inflammasome and IL-1beta-mediated disorders. Curr Allergy Asthma Rep. 2010; 10(4):229-35. PMC: 2892083. DOI: 10.1007/s11882-010-0109-z. View

Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C . Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003; 115(4):461-73. DOI: 10.1016/s0092-8674(03)00855-9. View

van der Meer J, Vossen J, Radl J, van Nieuwkoop J, Meyer C, Lobatto S . Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984; 1(8386):1087-90. DOI: 10.1016/s0140-6736(84)92505-4. View

Woods W, Roloff J, Lukens J, Krivit W . The occurrence of leukemia in patients with the Shwachman syndrome. J Pediatr. 1981; 99(3):425-8. DOI: 10.1016/s0022-3476(81)80336-8. View

10.

Wenham M, Grieve S, Cummins M, Jones M, Booth S, Kilner R . Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica. 2009; 95(2):333-7. PMC: 2817039. DOI: 10.3324/haematol.2009.012286. View

11.

Buck D, Malivert L, De Chasseval R, Barraud A, Fondaneche M, Sanal O . Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell. 2006; 124(2):287-99. DOI: 10.1016/j.cell.2005.12.030. View

12.

Grunebaum E, Bates A, Roifman C . Omenn syndrome is associated with mutations in DNA ligase IV. J Allergy Clin Immunol. 2008; 122(6):1219-20. DOI: 10.1016/j.jaci.2008.08.031. View

13.

Talaat K, Rothman J, Cohen J, Santi M, Choi J, Guzman M . Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection. Pediatr Blood Cancer. 2009; 53(6):1120-3. PMC: 2745493. DOI: 10.1002/pbc.22185. View

14.

Chistiakov D, Voronova N, Chistiakov A . Ligase IV syndrome. Eur J Med Genet. 2009; 52(6):373-8. DOI: 10.1016/j.ejmg.2009.05.009. View

15.

Hershfield M, Santisteban I . Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency. J Inherit Metab Dis. 1997; 20(2):179-85. DOI: 10.1023/a:1005300621350. View

16.

Austin K, Gupta Jr M, Coats S, Tulpule A, Mostoslavsky G, Balazs A . Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest. 2008; 118(4):1511-8. PMC: 2263145. DOI: 10.1172/JCI33764. View

17.

Renner E, Puck J, Holland S, Schmitt M, Weiss M, Frosch M . Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr. 2004; 144(1):93-9. DOI: 10.1016/S0022-3476(03)00449-9. View

18.

Geha R, Notarangelo L, Casanova J, Chapel H, Conley M, Fischer A . Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007; 120(4):776-94. PMC: 2601718. DOI: 10.1016/j.jaci.2007.08.053. View

19.

Gao Y, Sun Y, Frank K, Dikkes P, Fujiwara Y, Seidl K . A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell. 1999; 95(7):891-902. DOI: 10.1016/s0092-8674(00)81714-6. View

20.

Toiviainen-Salo S, Makitie O, Mannerkoski M, Hamalainen J, Valanne L, Autti T . Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. Am J Med Genet A. 2008; 146A(12):1558-64. DOI: 10.1002/ajmg.a.32354. View