WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies

American Journal of Medical Genetics

Volumn 91, Issue 5, 2000, Pages 368-376

  Gorlin, Robert J ^a,d,e   Gelb, Bruce ^b   Diaz, George A ^b   Lofsness, Karen G ^a   Pittelkow, Mark R ^c   Fenyk Jr , John R ^a,d  

^a University of Minnesota   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c MAYO CLINIC   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Hypogammaglobulinemia; Infections; Myelokathexis; Warts

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD DISEASE; BONE MARROW DISEASE; CHILD; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; GENETIC LINKAGE; HUMAN; HYPOGAMMAGLOBULINEMIA; IMMUNOPATHOLOGY; INFANT; INFECTION; MALE; MOLECULAR GENETICS; NEUTROPENIA; PEDIGREE; PRIORITY JOURNAL; SEX RATIO; VERRUCA VULGARIS; X CHROMOSOME;

ADOLESCENT; ADULT; AGAMMAGLOBULINEMIA; CHILD; EOSINOPHILS; FEMALE; GENES, DOMINANT; HUMANS; INFECTION; LEUKOCYTE COUNT; LINKAGE (GENETICS); MALE; NEUTROPENIA; NEUTROPHILS; PEDIGREE; SYNDROME; WARTS; X CHROMOSOME;

EUPHAUSIACEA; VERRUCA;

EID: 0034709124     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000424)91:5<368::AID-AJMG10>3.0.CO;2-9     Document Type: Article

References (40)

1. Adams P. 1994. Labman and Linkman: a data management system specifically designed for genome searches of complex diseases. Genet Epidemiol 11:87-98.
2. Asadullah K, Renz H, Docke WD, Otterbach H, Wahn U, Kottgen E, Volk HD, Sterry W. 1997. Verrucosis of hands and feet in a patient with combined immune deficiency. J Am Acad Dermatol 36:850-852.
3. Barnett N, Mak H, Winkelstein JA. 1983. Extensive verrucosis in primary immunodeficiency diseases. Arch Dermatol 119:5-7.
4. Bassan R, Viero P, Minetti B, Comotti B, Barbui T. 1984. Myelokathexis: a rare form of chronic benign granulocytopaenia. Br J Haematol 58: 115-117.
5. Bohinjec J. 1981. Myelokathexis: chronic neutropenia with hyperplastic bone marrow and hypersegmented neutrophils in two siblings. Blut 42:191-196.
6. Bohinjec J, Andoljsek D. 1992. Neutrophil-releasing activity of recombinant human granulocyte-macrophage colony-stimulating factor in myelokathexis. Br J Haematol 82:169-172.
7. Carlson JA, Rohwedder A, Daulat S, Schwartz J, Schaller J. 1999. Detection of human papillomavirus type 10 DNA in eccrine syringofibroadenomatosis occurring in Clouston syndrome. J Am Acad Dermatol 40: 259-262.
8. Chang MW, Romero R, Scholl PR, Paller AS. 1998. Mucocutaneous manifestations of the hyper-IgM immunodeficiency syndrome. J Am Acad Dermatol 38:191-196.
9. Fölster-Holst R, Swensson O, Stockfleth E, Mönig H, Mrowietz U, Christopher E. 1999. Comèl-Netherton syndrome complicated by papillomatous skin lesions containing human papilloma viruses 51 and 52 and plane warts containing human papillomavirus 16. Br J Dermatol 140: 1138-1143.
10. Gaspari AA, Zalka AD, Payne D, Menegus M, Bunce LA, Abboud CN, Tyring SK. 1997. Successful treatment of a generalized human papillomavirus infection with granulocyte-macrophage colony-stimulating factor and interferon gamma immunotherapy in a patient with a primary immunodeficiency and cyclic neutropenia. Arch Dermatol 133: 491-497.
11. Gelb BD, Edelson JG, Desnick RJ. 1995. Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet 10:235-237.
12. Genehunter [Computer software]. 1999. Frederick, MD: Ward Systems Group, Inc.
13. Goddard EA, Hughes EJ, Beatty DW. 1994. A case of immunodeficiency characterized by neutropenia, hypogammaglobulinemia, recurrent infections, and warts. Clin Lab Haematol 16:297-302.
14. Hess U, Ganser A, Schnurch HG, Seipelt G, Ottman OG, Falk S, Schultz G, Hoelzer D. 1992. Myelokathexis treated with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF). Br J Haematol 80:254-256.
15. Hintner H, Jaschke E, Fritsch P. 1980. Netherton syndrome: abwehrschwäche, generalisierte verrukose, und karzinogenese. Hautarzt 31: 428-432.
16. Hord JD, Whitlock JA, Gay JC, Lukens JN. 1997. Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature. J Pediatr Hematol Oncol 19:443-448.
17. Jablonska S, Majewski S. 1994. Epidermodysplasia verruciformis: immunological and clinical aspects. Curr Top Microbiol Immunol 186:157-175.
18. Juhlin L, Michaelsson G. 1977. A new syndrome characterized by absence of eosinophils and basophils. Lancet 1:1233-1235.
19. Krill CE Jr, Smith HD, Mauer AM. 1964. Chronic idiopathic granulocytopenia. N Engl J Med 270:973-979.
20. Liles WC, Park JR, Chi EY, Dale DC. 1995. Myelokathexis - a congenital form of neutropenia characterized by accelerated apoptosis and defective expression of BCL-X in neutrophil precursors. Blood 86:(suppl) Abstract No. 1024, p 259.
21. Lonsdale D, Deodhar SD, Mercer RD. 1967. Familial immunoglobulin abnormality. Report of three cases in young brothers. J Pediatr 71:790-801.
22. Mentzer WC, Johnston RB, Baehner RL, Nathan DG. 1977. An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinemia. Br J Hematol 36:313-322.
23. Misra RS, Mukherjee A, Nath I, Jain RK, Sharma AK. 1986. Extensive verrucosis, squamous cell carcinoma, and immunologic abnormality in Klinefelter syndrome. Int J Dermatol 25:529-530.
24. Morison WL. 1975. Viral warts, herpes simplex, and herpes zoster in patients with secondary immunodeficiencies and neoplasms. Br J Dermatol 92:625-630.
25. Ohashi H, Tsukahara M, Murano I, Fujita K, Matsuura S, Fukushima Y, Kajii T. 1993. Premature aging and immunodeficiency: Mulvihill-Smith syndrome? Am J Med Genet 45:597-658.
26. O'Regan S, Newman AJ, Graham RC. 1977. Myelokathexis: neutropenia with marrow hyperplasia. Am J Dis Child 131:655-658.
27. Ormerod AD, Finlay AY, Knight AG, Mathews N, Stark JM, Gough J. 1983. Immune deficiency and multiple viral warts: a possible variant of the Wiskott-Aldrich syndrome. Br J Dermatol 108:211-215.
28. Pfister H, Hettich I, Runne U, Gissmann L, Chilf GN. 1983. Characterization of human papillomavirus type 13 from focal epithelial hyperplasia Heck lesions. J Virol 47:363-366.
29. Plebani A, Cantu-Rajnoldi A, Collo G, Allavena P, Brolchini A, Pierilli A, Clerici Schoeller M, Masarone M. 1988. Myelokathexis associated with multiple congenital malformations: immunological study on phagocytic cells and lymphocytes. Eur J Haematol 40:12-17.
30. Prasad AS, Reiner E, Watson CJ. 1957. Syndrome of hypogammaglobulinemia, splenomegaly, and hypersplenism. Blood 12:926-932.
31. Reid TMS, Fraser NG, Kernohan IR. 1976. Generalized warts and immune deficiency. Br J Dermatol 95:559-564.
32. Rieger CHL, Moohr JW, Rothberg RM. 1974. Correction of neutropenia associated with dysgammaglobulinemia. Pediatrics 54:508-511.
33. Rosen FS, Janeway CA. 1966. The gamma globulins. III. The antibody deficiency syndromes. N Engl J Med 275:709-715, 769-775.
34. Schreiber ZA, Rosner F, Alter AA, Dosik H, Meyers J. 1972. Severe persistent neutropenia, direct positive antiglobulin reaction, and familial IgA deficiency. Isr J Med Sci 8:613-619.
35. Shovlin CL, Simmonds HA, Fairbanks LD, Deacock SJ, Hughes JMB, Lechler RI, Webster ADB, Sun XM, Webb JC, Soutar AK. 1994. Adult-onset immunodeficiency caused by inherited adenosine deaminase deficiency. J Immunol 153:2331-2339.
36. Weston B, Axtell R, Todd RF III, Vincent M, Balazovich KJ, Suchard SJ, Boxer LA. 1991. Clinical and biologic effects of granulocyte-stimulating factor in the treatment of myelokathexis. J Pediatr 118:229-234.
37. Wetzler M, Talpaz M, Kleinerman ES, King A, Huh YO, Gutterman JU, Kurzrock R. 1990. A new familial immunodeficiency disorder characterized by severe neutropenia, a defective bone marrow release mechanism, and hypogammaglobulinemia. Am J Med 89:663-672.
38. Wetzler M, Talpaz M, Kellagher MJ, Gutterman JU, Kurzrock R. 1992. Myelokathexis: normalization of neutrophil counts and morphology of GM-CSF. JAMA 267:2179-2180.
39. Zinn K-H, Belohradsky BH. 1977. Wiskott-Aldrich-Syndrom mit Verrucae vulgares. Hautarzt 28:664-667.
40. Zuelzer WW. 1964. "Myelokathexis" - a new form of chronic granulocytopenia. N Engl J Med 270:699-704.