Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

Journal of Clinical Immunology

Volumn 35, Issue 7, 2015, Pages 598-603

  Robertson, Nic ^a,b   Engelhardt, Karin R ^a   Morgan, Neil V ^c   Barge, Dawn ^d   Cant, Andrew J ^b   Hughes, Stephen M ^e   Abinun, Mario ^b   Xu, Yaobo ^a   Koref, Mauro Santibanez ^a   Arkwright, Peter D ^e   Hambleton, Sophie ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Newcastle Upon Tyne Hospitals NHS Foundation Trust   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

common variable immunodeficiency; CVID; ICOS; primary immunodeficiency

Indexed keywords

ALANINE AMINOTRANSFERASE; CD19 ANTIGEN; CD27 ANTIGEN; CD45RA ANTIGEN; CD69 ANTIGEN; CHEMOKINE RECEPTOR CXCR5; DNA; GAMMA GLUTAMYLTRANSFERASE; GANCICLOVIR; IMMUNOGLOBULIN; IMMUNOGLOBULIN D; INDUCIBLE T CELL COSTIMULATOR; NITAZOXANIDE; VALGANCICLOVIR; ICOS PROTEIN, HUMAN;

10 BASE PAIR FRAMESHIFT DELETION; ABDOMINAL PAIN; ABSENTEEISM; ADENOVIRUS INFECTION; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; ANTIVIRAL THERAPY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CAPILLARY LEAK SYNDROME; CASE REPORT; CAUSE OF DEATH; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CELL STIMULATION; CHILD; CHRONIC HEPATITIS; COLITIS; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; CRYPTOSPORIDIOSIS; DIARRHEA; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; ENTERITIS; EXOME; EXON; FEMALE; FEVER; FLOW CYTOMETRY; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GENETIC VARIABILITY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN HERPESVIRUS 6; HUMAN TISSUE; HYPERTRANSAMINASEMIA; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INDUCIBLE T CELL COSTIMULATOR DEFICIENCY; LETHARGY; LOOSE FECES; LYMPHOCYTE COUNT; MALE; MEMORY CELL; MEMORY T LYMPHOCYTE; NOROVIRUS INFECTION; ONSET AGE; PAKISTANI; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; REDUCED INTENSITY CONDITIONING; RESPIRATORY DISTRESS; SCHOOL CHILD; STOP CODON; SUBSTITUTION THERAPY; TOXIC EPIDERMAL NECROLYSIS; TREATMENT OUTCOME; TREATMENT RESPONSE; UPREGULATION; VIRUS IMMUNITY; WEIGHT REDUCTION; COMPLICATION; DNA MUTATIONAL ANALYSIS; FATALITY; FRAMESHIFT MUTATION; GENETICS; HELPER CELL; HEPATITIS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; METABOLISM; PAKISTAN; PEDIGREE; ROSEOLOVIRUS INFECTIONS; SIBLING; VIROLOGY;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENTERITIS; EXONS; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; HEPATITIS; HERPESVIRUS 6, HUMAN; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INDUCIBLE T-CELL CO-STIMULATOR PROTEIN; MALE; PAKISTAN; PEDIGREE; ROSEOLOVIRUS INFECTIONS; SEQUENCE DELETION; SIBLINGS; T-LYMPHOCYTES, HELPER-INDUCER;

EID: 84946482800     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0193-x     Document Type: Article

References (19)

1. Simpson TR, Quezada SA, Allison JP. Regulation of CD4 T cell activation and effector function by inducible costimulator (ICOS). Curr Opin Immunol. 2010;22:326–32.
2. Liu X, Nurieva RI, Dong C. Transcriptional regulation of follicular T-helper (Tfh) cells. Immunol Rev. 2013;252:139–45.
3. Zheng J, Chan P-L, Liu Y, Qin G, Xiang Z, et al. (2013) ICOS regulates the generation and function of human CD4+ treg in a CTLA-4 dependent manner. PLoS One 8: e82203.
4. Paulos CM, Carpenito C, Plesa G, Suhoski MM, Varela-Rohena A, et al. (2010) The Inducible Costimulator (ICOS) Is Critical for the Development of Human TH17 Cells. Sci Transl Med 2: 55ra78–55ra78.
5. Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 2003;4:261–8.
6. Takahashi N, Matsumoto K, Saito H, Nanki T, Miyasaka N, et al. Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients. J Immunol. 2009;182:5515–27.
7. Chou J, Massaad MJ, Cangemi B, Bainter W, Platt C, et al. (2015) A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J Allergy Clin Immunol. 2015;136:794–97.
8. Yong PFK, Thaventhiran JED, Grimbacher B (2011) “A rose is a rose is a rose,” but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011? Adv Immunol 111: 47–107.
9. Warnatz K, Bossaller L, Salzer U, Skrabl-Baumgartner A, Schwinger W, et al. Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood. 2006;107:3045–52.
10. Hill JT, Demarest BL, Bisgrove BW, Su Y-C, Smith M, et al. Poly peak parser: method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products. Dev Dyn. 2014;243:1632–6.
11. Comans-Bitter WM, de Groot R, van den Beemd R, Neijens HJ, Hop WC, et al. Immunophenotyping of blood lymphocytes in childhood. Reference Values for Lymphocyte Subpopulations J Pediatr. 1997;130:388–93.
12. Morbach H, Eichhorn EM, Liese JG, Girschick HJ. Reference values for B cell subpopulations from infancy to adulthood. Clin Exp Immunol. 2010;162:271–9.
13. Schauer U, Stemberg F, Rieger CH, Büttner W, Borte M, et al. Levels of antibodies specific to tetanus toxoid, haemophilus influenzae type b, and pneumococcal capsular polysaccharide in healthy children and adults. Clin Diagn Lab Immunol. 2003;10:202–7.
14. Jolliff CR, Cost KM, Stivrins PC, Grossman PP, Nolte CR, et al. Reference intervals for serum IgG, IgA, IgM, C3, and C4 as determined by rate nephelometry. Clin Chem. 1982;28:126–8.
15. Bossaller L, Burger J, Draeger R, Grimbacher B, Knoth R, et al. ICOS deficiency is associated with a severe reduction of CXCR5 + CD4 germinal center Th cells. J Immunol. 2006;177:4927–32.
16. Tangye SG, Ma CS, Brink R, Deenick EK. The good, the bad and the ugly - TFH cells in human health and disease. Nat Rev Immunol. 2013;13:412–26.
17. Schatorjé EJ, Gemen EF, Driessen GJ, Leuvenink J, van Hout RW, de Vries E. Paediatric reference values for the peripheral T cell compartment. Scand J Immunol. 2012;75:436–44.
18. Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine. 2003;82:373–84.
19. Ma CS, Wong N, Roa G, Avery DT, Torpy J, et al. Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies. J Allergy Clin Immunol. 2015. doi:10.1016/j.jaci.2015.05.036.