Clinical and laboratory findings in Hyper-IgM syndrome with novel CD40L and AICDA mutations

Journal of Clinical Immunology

Volumn 29, Issue 6, 2009, Pages 769-776

  Aghamohammadi, Asghar ^a,b,e   Parvaneh, Nima ^a,b   Rezaei, Nima ^a,b   Moazzami, Kasra ^b   Kashef, Sara ^c   Abolhassani, Hassan ^b   Imanzadeh, Amir ^b   Mohammadi, Javad ^d   Hammarström, Lennart ^d  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

AICDA; CD40L; Hyper IgM syndromes; Infection; Mutations

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; CD40 LIGAND; IMMUNOGLOBULIN;

ADOLESCENT; ADULT; AICDA GENE; ARTICLE; CD40 GENE; CD40L GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPER IGM SYNDROME; INFANT; IRAN; LABORATORY TEST; MALE; MISMATCH REPAIR; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; RNA SPLICING; SCREENING; UNG GENE;

ADOLESCENT; ADULT; ANTIGENS, CD40; CD40 LIGAND; CHILD; CHILD, PRESCHOOL; CYTIDINE DEAMINASE; DNA MUTATIONAL ANALYSIS; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; INFANT; INFECTION; IRAN; MUTATION; URACIL-DNA GLYCOSIDASE; YOUNG ADULT;

EID: 72849145526     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-009-9315-7     Document Type: Article

References (34)

1. LD Notarangelo M Duse AG Ugazio 1992 Immunodeficiency with hyper-IgM (HIM) Immunodefic Rev 3 101 121 1:STN:280:DyaK383gslGhuw%3D%3D 1554497
2. J Levy T Espanol-Boren C Thomas A Fischer P Tovo P Bordigoni, et al. 1997 Clinical spectrum of X-linked hyper-IgM syndrome J Pediatr 131 47 54 10.1016/S0022-3476(97)70123-9 1:STN:280:DyaK2szpvFSlsA%3D%3D 9255191 (Pubitemid 27498308)
3. U Korthauer D Graf HW Mages F Briere M Padayachee S Malcolm, et al. 1993 Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM Nature 361 539 541 10.1038/361539a0 1:STN:280:DyaK3s7ls1yguw%3D%3D 7679206 (Pubitemid 23055615)
4. A Aruffo M Farrington D Hollenbaugh X Li A Milatovich S Nonoyama, et al. 1993 The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome Cell 72 291 300 10.1016/0092-8674(93)90668-G 1:CAS:528:DyaK3sXkvFensrs%3D 7678782 (Pubitemid 23044943)
5. A Durandy C Hivroz F Mazerolles C Schiff F Bernard E Jouanguy, et al. 1997 Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression J Immunol 158 2576 2584 1:CAS:528:DyaK2sXhvVOhurk%3D 9058789
6. S Ferrari S Giliani A Insalaco A Al-Ghonaium AR Soresina M Loubser, et al. 2001 Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM Proc Natl Acad Sci U S A 98 12614 12619 10.1073/pnas.221456898 1:CAS:528:DC%2BD3MXotFaiurY%3D 11675497 (Pubitemid 33019994)
7. P Revy T Muto Y Levy F Geissmann A Plebani O Sanal, et al. 2000 Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2) Cell 102 565 575 10.1016/S0092-8674(00)00079-9 1:CAS:528:DC%2BD3cXmsFWit7k%3D 11007475
8. K Imai N Catalan A Plebani L Marodi O Sanal S Kumaki, et al. 2003 Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination J Clin Invest 112 136 142 1:CAS:528: DC%2BD3sXlt1KrtLo%3D 12840068
9. WI Lee TR Torgerson MJ Schumacher L Yel Q Zhu HD Ochs 2005 Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome Blood 105 1881 1890 10.1182/blood-2003-12-4420 1:CAS:528: DC%2BD2MXitVOns7w%3D 15358621 (Pubitemid 40731768)
10. LD Notarangelo G Lanzi S Peron A Durandy 2006 Defects of class-switch recombination J Allergy Clin Immunol 117 855 864 10.1016/j.jaci.2006.01.043 1:CAS:528:DC%2BD28XjslelsLk%3D 16630945 (Pubitemid 44313814)
11. K Imai G Slupphaug WI Lee P Revy S Nonoyama N Catalan, et al. 2003 Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination Nat Immunol 4 1023 1028 10.1038/ni974 1:CAS:528:DC%2BD3sXnsF2murc%3D 12958596 (Pubitemid 37265924)
12. SK Dickerson E Market E Besmer FN Papavasiliou 2003 AID mediates hypermutation by deaminating single stranded DNA J Exp Med 197 1291 1296 10.1084/jem.20030481 1:CAS:528:DC%2BD3sXktVGgtbo%3D 12756266 (Pubitemid 36617775)
13. C Rada GT Williams H Nilsen DE Barnes T Lindahl MS Neuberger 2002 Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice Curr Biol 12 1748 1755 10.1016/S0960-9822(02) 01215-0 1:CAS:528:DC%2BD38Xot1ags7s%3D 12401169 (Pubitemid 35169790)
14. A Durandy S Peron A Fischer 2006 Hyper-IgM syndromes Curr Opin Rheumatol 18 369 376 10.1097/01.bor.0000231905.12172.b5 1:CAS:528:DC%2BD28XlsVeqsrc%3D 16763457 (Pubitemid 44297282)
15. S Peron A Metin P Gardes MA Alyanakian E Sheridan CP Kratz, et al. 2008 Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination J Exp Med 205 2465 2472 10.1084/jem.20080789 1:CAS:528: DC%2BD1cXhtlWnt7fP 18824584
16. K Seyama S Nonoyama I Gangsaas D Hollenbaugh HF Pabst A Aruffo, et al. 1998 Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome Blood 92 2421 2434 1:CAS:528:DyaK1cXmsVKns7o%3D 9746782
17. S Kashef M Ghaedian N Rezaei Z Karamizadeh A Aghamohammadi A Durandy, et al. 2009 Isolated growth hormone deficiency in a patient with Immunoglobulin class switch recombination deficiency J Investig Allergol Clin Immunol 19 233 236 1:STN:280:DC%2BD1MvptlCgsg%3D%3D 19610268
18. N Rezaei A Aghamohammadi A Ramyar Q Pan-Hammarstrom L Hammarstrom 2008 Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia Int Arch Allergy Immunol 147 255 259 10.1159/000142050 18594157
19. L Atarod A Aghamohammadi M Moin H Kanegane N Rezaei K Rezaei Kalantari, et al. 2007 Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy Iran J Allergy Asthma Immunol 6 37 40 1:CAS:528:DC%2BD1cXhsVCrt7c%3D 17303928
20. Q Lin J Rohrer RC Allen M Larche JM Greene AO Shigeoka, et al. 1996 A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest 97 196 201 10.1172/JCI118389 1:CAS:528:DyaK28Xhtlaisrw%3D 8550833
21. JA Winkelstein MC Marino H Ochs R Fuleihan PR Scholl R Geha, et al. 2003 The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients Medicine (Baltimore) 82 373 384 10.1097/01.md.0000100046.06009.b0 1:CAS:528:DC%2BD3sXps1ShsL8%3D (Pubitemid 37445041)
22. LD Notarangelo AR Hayward 2000 X-linked immunodeficiency with hyper-IgM (XHIM) Clin Exp Immunol 120 399 405 10.1046/j.1365-2249.2000.01142.x 1:CAS:528:DC%2BD3cXkt1eqsLo%3D 10844515 (Pubitemid 30365542)
23. Y Minegishi A Lavoie C Cunningham-Rundles PM Bedard J Hebert L Cote, et al. 2000 Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome Clin Immunol 97 203 210 10.1006/clim.2000.4956 1:CAS:528:DC%2BD3MXkvVKhsQ%3D%3D 11112359
24. P Quartier J Bustamante O Sanal A Plebani M Debre A Deville, et al. 2004 Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency Clin Immunol 110 22 29 10.1016/j.clim.2003.10.007 1:CAS:528:DC%2BD2cXhtV2htbk%3D 14962793 (Pubitemid 38177417)
25. Y Zhu S Nonoyama T Morio M Muramatsu T Honjo S Mizutani 2003 Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase J Med Dent Sci 50 41 46 12715918
26. FJ Andrews F Katz A Jones S Smith A Finn 1996 CD40 ligand deficiency presenting as unresponsive neutropenia Arch Dis Child 74 458 459 10.1136/adc.74.5.458 1:STN:280:DyaK283mtlajsQ%3D%3D 8669967
27. N Rezaei A Farhoudi A Ramyar Z Pourpak A Aghamohammadi B Mohammadpour, et al. 2005 Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients J Pediatr Hematol Oncol 27 351 356 10.1097/01.mph.0000172280.27318.80 16012323 (Pubitemid 41077022)
28. N Rezaei A Farhoudi Z Pourpak A Aghamohammadi M Moin M Gharagozlou, et al. 2004 Neutropenia in patients with primary antibody deficiency disorders Iran J Allergy Asthma Immunol 3 77 81 17301396
29. N Rezaei A Farhoudi Z Pourpak A Aghamohammadi M Moin M Movahedi, et al. 2005 Neutropenia in Iranian patients with primary immunodeficiency disorders Haematologica 90 554 556 15820955
30. M Mori S Nonoyama M Neubauer T Mitsuda K Kosuge S Yokota 2000 Mutation analysis and therapeutic response to granulocyte colony-stimulating factor in a case of hyperimmunoglobulin M syndrome with chronic neutropenia J Pediatr Hematol Oncol 22 288 289 10.1097/00043426-200005000-00020 1:STN:280: DC%2BD3czitVSlsA%3D%3D 10864066 (Pubitemid 32268319)
31. J Thusberg M Vihinen 2007 The structural basis of hyper IgM deficiency-CD40L mutations Protein Eng Des Sel 20 133 141 10.1093/protein/gzm004 1:CAS:528:DC%2BD2sXlt1Ortbw%3D 17307885 (Pubitemid 46536747)
32. A Jain CA Ma S Liu M Brown J Cohen W Strober 2001 Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia Nat Immunol 2 223 228 10.1038/85277 1:CAS:528:DC%2BD3MXhvVWisLg%3D 11224521 (Pubitemid 33705998)
33. A Puel J Reichenbach J Bustamante CL Ku J Feinberg R Doffinger, et al. 2006 The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation Am J Hum Genet 78 691 701 10.1086/501532 1:CAS:528:DC%2BD28Xjt1Glsbk%3D 16532398
34. A Durandy P Revy A Fischer 2004 Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes) Adv Immunol 82 295 330 10.1016/S0065-2776(04)82007-8 1:CAS:528:DC%2BD2cXivFCju78%3D 14975260 (Pubitemid 38209514)