Severe congenital neutropenia or hyper-igm syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia

International Archives of Allergy and Immunology

Volumn 147, Issue 3, 2008, Pages 255-259

  Rezaei, Nima ^a,d   Aghamohammadi, Asghar ^a,b   Ramyar, Asghar ^a   Pan Hammarstrom, Qiang ^c   Hammarstrom, Lennart ^c  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Hyper IgM syndromes; Immunological deficiency syndromes; Infection; Mutation; Neutropenia

Indexed keywords

CD40 LIGAND; COTRIMOXAZOLE; ELASTASE; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; LEUKOCYTE ELASTASE;

ADD ON THERAPY; ANUS ULCER; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE MARROW CELL; BONE MARROW EXAMINATION; CASE REPORT; CD40 LIGAND DEFICIENCY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; ELA2 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GENITAL ULCER; GROWTH DISORDER; HAX1 GENE; HUMAN; HYPER IGM SYNDROME; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; MALE; MOUTH ULCER; NEUTROPENIA; PERIODONTITIS; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SEVERE CONGENITAL NEUTROPENIA; T LYMPHOCYTE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CD40 LIGAND; CHILD, PRESCHOOL; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEUTROPENIA; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 54249089840     PISSN: 10182438     EISSN: None     Source Type: Journal    
DOI: 10.1159/000142050     Document Type: Article

References (23)

1. Welte K, Zeidler C, Dale DC: Severe congenital neutropenia. Semin Hematol 2006;43:189-195.
2. Rezaei N, Farhoudi A, Ramyar A, Pourpak Z, Aghamohammadi A, Mohammadpour B, Moin M, Gharagozlou M, Movahedi M, Ghazi BM, Izadyar M, Mahmoudi M: Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. J Pediatr Hematol Oncol 2005;27:351-356.
3. Zeidler C, Welte K: Kostmann syndrome and severe congenital neutropenia. Semin Hematol 2002;39:82-88.
4. Zeidler C, Schwinzer B, Welte K: Congenital neutropenias. Rev Clin Exp Hematol 2003;7:72-83.
5. Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Sherkat R, Aghamohammadi A, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A: The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol 2007;27:525-533.
6. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee: Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007;120:776-794.
7. Etzioni A, Ochs HD: The hyper IgM syndrome - an evolving story. Pediatr Res 2004;56:519-525.
8. Allen RC, Armige RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK: CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993;259:990-993.
9. DiSanto JP, Bonnefoy JY, Gauchat JF, Fischer A, de Saint Basile G: CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM. Nature 1993;361:541-543.
10. Fuleihan R, Ramesh N, Loh R, Jbara H, Rosen FS, Chatila T, Fu SM, Stamenkovic I, Geha RS: Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc Natl Acad Sci USA 1993;90:2170-2173.
11. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M: Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000;96:2317-2322.
12. Salipante S, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, Rezaei N, Horwitz MS: Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat 2007;28:874-881.
13. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte B: HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007;39:86-92.
14. Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Movahedi M, Gharagozlou M: Neutropenia in Iranian patients with primary immunodeficiency disorders. Haematologica 2005;90:554-556.
15. Durandy A: Hyper-IgM syndromes: a model for studying the regulation of class switch recombination and somatic hypermutation generation. Biochem Soc Trans 2002;30:815-818.
16. Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME: The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003;82:373-384.
17. Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrabamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD: Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997;131:47-54.
18. Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Gharagozlou M, Movahedi M, Mirsaeid Ghazi B, Atarod L, Mahmoudi M, Ahmadi Afshar A, Bazargan N, Isaeian A, Nabavi M, Chavoshzadeh Z, Heydarzadeh M, Bemanian MH, Fazlollahi MR: Neutropenia in patients with primary antibody deficiency disorders. Iran J Allergy Asthma Immunol 2004;3:77-81.
19. Atarod L, Aghamohammadi A, Moin M, Kanegane H, Rezaei N, Rezaei Kalantari K, Amirzagar AA, Futatani T, Miyawaki T: Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. Iran J Allergy Asthma Immunol 2007;6:37-40.
20. Notarangelo LD, Duse M, Ugazio AG: Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev 1992;3:101-122.
21. Mori M, Nonoyama S, Neubauer M, Mitsuda T, Kosuge K, Yokota S: Mutation analysis and therapeutic response to granulocyte colony-stimulating factor in a case of hyperimmunoglobulin M syndrome with chronic neutropenia. J Pediatr Hematol Oncol 2000;22:288-289.
22. Durandy A, Honjo T: Human genetic defects in class-switch recombination (hyper-IgM syndromes). Curr Opin Immunol 2001;13:543-548.
23. Ravanbakhsh M, Sarafnejad A, Aghamohammadi A, Kardar GA, Asgarian Omran H, Atarod L, Rezaei N, Shahrestani T, Hosseini M, Moin M: CD40 ligand expression on stimulated T-helper lymphocytes in patients with common variable immunodeficiency. Iran J Allergy Asthma Immunol 2007;6:129-135.