blood protein disorders


Summary: Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS.

Top Publications

  1. Schmitz N, Prange E, Haferlach T, Griesser H, Sonnen R, Schlegelberger B, et al. High-dose chemotherapy and autologous bone marrow transplantation in relapsing angioimmunoblastic lymphadenopathy with dysproteinemia (AILD). Bone Marrow Transplant. 1991;8:503-6 pubmed
    ..We report the first patient with relapsed AILD successfully treated by HDCT and ABMT. This 21-year-old male is alive and free of disease 27 months after ABMT with a Karnofsky score of 100%. ..
  2. Ospino A, Ermocilla R, Schlager H, Ospino de Schlager P, Pachar J, da Silva R, et al. [Angioimmunoblastic lymphadenopathy with dysproteinemia. The first reported case at the "Santo Tomás" Hospital]. Med Cutan Ibero Lat Am. 1990;18:1-4 pubmed
    ..This disease can present itself up to 22 years after exposure to the agent. ..
  3. Cavazzana Calvo M, Hacein Bey Abina S. Correction of genetic blood defects by gene transfer. Curr Opin Hematol. 2001;8:360-7 pubmed
    ..Despite the obstacles, improved clinical results for several of these diseases are expected within the next 5 years. ..
  4. Hamill R, Woods J, Cook B. Congenital atransferrinemia. A case report and review of the literature. Am J Clin Pathol. 1991;96:215-8 pubmed
    ..Two bone marrow aspirates were hypercellular, with decreased myeloid-erythroid ratios. This case represents the eighth reported example of congenital atransferrinemia, a rare, apparently autosomal recessive disease. ..
  5. Crookston K, Henderson R, Chandler W. False negative factor V Leiden assay following allogeneic stem cell transplant. Br J Haematol. 1998;100:600-2 pubmed
    ..The patient had undergone a stem cell transplant several months before, and the leucocytes in her blood were derived from the stem cell donor, which lacked the FV defect. ..
  6. Sasaki E, Ohta Y, Shinohara R, Ishiguro I. Contribution of serum albumin to the transport of orally administered L-tryptophan into liver of rats with L-tryptophan depletion. Amino Acids. 1999;16:29-39 pubmed
    ..These results suggest that variations in serum albumin levels could affect the transport of orally administered Trp into the liver of rats with Trp depletion. ..
  7. Brennan S. The molecular abnormality of albumin Parklands: 365 Asp----His. Biochim Biophys Acta. 1985;830:320-4 pubmed
    ..Predictably, this confers on albumin Parklands a greater resistance to partial acid hydrolysis, a feature which, when employed together with SDS-gel electrophoresis, can be used as a diagnostic test for the presence of this variant. ..
  8. Kon S, Sato T, Onodera K, Satoh M, Kikuchi K, Imai S, et al. Detection of Epstein-Barr virus DNA and EBV-determined nuclear antigen in angioimmunoblastic lymphadenopathy with dysproteinemia type T cell lymphoma. Pathol Res Pract. 1993;189:1137-44 pubmed
    ..These results suggest that a significant number of AILD type cases are T cell origin lymphomas and EBV infection may be relevant to the biological features of this type of lymphoma. ..
  9. Kim E, Suh O, Lee M. Pharmacokinetics of intravenous theophylline in mutant Nagase analbuminemic rats. Life Sci. 2003;72:1231-45 pubmed
    ..After intravenous administration of 1,3-DMU, the renal secretion of 1,3-DMU was inhibited in NARs. Inhibition of renal secretion or reabsorption of various compounds in NARs was also discussed. ..

More Information


  1. Zhu D, van Arkel C, King C, Meirvenne S, De Greef C, Thielemans K, et al. Immunoglobulin VH gene sequence analysis of spontaneous murine immunoglobulin-secreting B-cell tumours with clinical features of human disease. Immunology. 1998;93:162-70 pubmed
    ..These results indicate that murine VH genes in mature tumours differ from human counterparts in the level and distribution of somatic mutations, but support the concept that BMG may be distinct from MM. ..
  2. George J, Saucerman S. Platelet IgG, IgA, IgM, and albumin: correlation of platelet and plasma concentrations in normal subjects and in patients with ITP or dysproteinemia. Blood. 1988;72:362-5 pubmed
  3. Martel P, Laroche L, Courville P, Larroche C, Wechsler J, Lenormand B, et al. Cutaneous involvement in patients with angioimmunoblastic lymphadenopathy with dysproteinemia: a clinical, immunohistological, and molecular analysis. Arch Dermatol. 2000;136:881-6 pubmed
    ..Cutaneous infiltrate seems to be clonally related to the nodal T-cell proliferation. The role of EBV infection in skin lesions was not evidenced. ..
  4. Le Page L, Leflon P, Mahevas M, Duhaut P, Smail A, Salle V, et al. [Aetiological spectrum of hyperferritinemia]. Rev Med Interne. 2005;26:368-73 pubmed
    ..The two major aetiology of hyperferritinemia were non-HIV infections and malignancies. ..
  5. Huiling X, Inagaki M, Arikura J, Ozaki A, Onodera K, Ogawa K, et al. Hepatocytes derived from peripheral blood stem cells of granulocyte-colony stimulating factor treated F344 rats in analbuminemic rat livers. J Surg Res. 2004;122:75-82 pubmed
    ..Hematopoietic SCs mobilized from BM into PB by the G-CSF treatment may raise hepatocyte colonies, when transplanted into regenerating livers. ..
  6. Bick R, Ancypa D. Blood protein defects associated with thrombosis. Laboratory assessment. Clin Lab Med. 1995;15:125-63 pubmed
  7. Tazi I, Rachid M, Benchekroun S. Sjögren's syndrome associated with multiple myeloma. Singapore Med J. 2008;49:e215-6 pubmed
    ..However, some elements orient toward a common pathway for these two diseases, like the clinical remission of SS after treatment of the MM, such as described in our patient. ..
  8. Kang J, Holland M, Jones H, Kaysen G. Coordinate augmentation in expression of genes encoding transcription factors and liver secretory proteins in hypo-oncotic states. Kidney Int. 1999;56:452-60 pubmed
    ..Both EGRF-1 and HNF-4 may regulate the expression of the negative APPs, which have increased transcription in hypo-oncotic states. ..
  9. Castaman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V. Br J Haematol. 1997;99:257-61 pubmed
    ..These data confirm that genotypic analysis is mandatory in patients with phenotypic severe APC resistance before these patients are definitely classified as homozygotes for FV Leiden and that further genotypic analysis is advisable. ..
  10. Luddington R, Brown K, Baglin T. Effect of platelet phospholipid exposure on activated protein C resistance: implications for thrombophilia screening. Br J Haematol. 1996;92:744-6 pubmed
    ..For the purpose of identifying individuals at increased risk of venous thromboembolism due to the presence of the FVQ506 and associated APC resistance a PCR-based genotypic analysis is recommended. ..
  11. Demel U. [A new micromethod in medicine: capillary electrophoresis]. Wien Med Wochenschr. 1997;147:336-8 pubmed
    ..The new system is rapid, reliable, cheap and reproducible, and allows us to replace more extensive forms of protein diagnosis such as the traditional electrophoresis and the immunoelectrophoresis or the immunoblotting. ..
  12. Schlegelberger B, Zhang Y, Weber Matthiesen K, Grote W. Detection of aberrant clones in nearly all cases of angioimmunoblastic lymphadenopathy with dysproteinemia-type T-cell lymphoma by combined interphase and metaphase cytogenetics. Blood. 1994;84:2640-8 pubmed
    ..This high frequency of oligoclonal proliferations may be caused by increased genetic instability and an immune defect resulting in impaired elimination of aberrant cells. ..
  13. Muroi R, Yagyu H, Kobayashi H, Nagata M, Sato N, Ideno J, et al. Early onset insulin-dependent diabetes mellitus as an initial manifestation of aceruloplasminaemia. Diabet Med. 2006;23:1136-9 pubmed
  14. Steinberg A, Seldin M, Jaffe E, Smith H, Klinman D, Krieg A, et al. NIH conference. Angioimmunoblastic lymphadenopathy with dysproteinemia. Ann Intern Med. 1988;108:575-84 pubmed
    ..The rest usually go into a sustained remission. Current treatment with corticosteroid and immunosuppressive agents is unsatisfactory, especially because of late immunosuppression and predisposition to infections. ..
  15. Sun Tan C, Ozgur T, Kilinc G, Topaloglu R, Gokoz O, Ersoy Evans S, et al. Hereditary C1q deficiency: a new family with C1qA deficiency. Turk J Pediatr. 2010;52:184-6 pubmed
    ..Molecular study disclosed a homozygous point mutation in the C1qA chain gene. Five members of the family, including the parents and three healthy siblings, were heterozygous for this mutation. ..
  16. Ghezzo F, Romano S, Gorzegno G, Anfossi G, Lacivita A, Emanuelli G. [Cryptococcosis in a female patient with angioimmunoblastic lymphadenopathy and dysproteinemia]. Ann Ital Med Int. 1992;7:111-3 pubmed
    ..Cryptococcosis was diagnosed by cutaneous biopsy. Antimycotic therapy together with corticosteroid withdrawal cured the cutaneous lesions and improved her psychiatric symptoms. ..
  17. Zimmerman P, Francis G. A possible new syndrome of familial euthyroid dysproteinemia associated with elevated thyroxine and triiodothyronine. J Pediatr Endocrinol Metab. 1995;8:253-6 pubmed
    ..We believe this may represent a new syndrome of familial dysproteinemia in which multiple proteins show enhanced binding of T3 and T4. This could reflect increased binding sites, increased binding affinity, or a combination of both. ..
  18. Schooneman F, Streiff F, Donner M. [Evaluation of an automated system of measuring erythrocyte aggregation in dysglobulinemia treated by plasma exchange]. Ann Med Interne (Paris). 1988;139 Suppl 1:63-5 pubmed
    ..These findings demonstrate the value of this new technique for evaluating red cell aggregation. These data should be completed by rheological assessment of dysglobulinemia treated by plasma exchange. ..
  19. De Terlizzi M, Toma M, Santostasi T, Colella R, Ceci A, De Benedictis G. Angioimmunoblastic lymphadenopathy with dysproteinemia: report of a case in infancy with review of literature. Pediatr Hematol Oncol. 1989;6:37-44 pubmed
    ..From a rapid survey of the present knowledge, the nosology, immunological features, and therapy of AILD are discussed and a possible presumptive pathogenetic pathway is proposed. ..
  20. Eber O, Langsteger W, Florian W, Schubert B, Lind P, Klima G, et al. [Evaluating thyroid gland function in patients with protein anomalies]. Acta Med Austriaca. 1991;18:11-9 pubmed
    ..Moreover, all other types of EHT must be taken into consideration by differential diagnosis. ..
  21. Berkel A, Petry F, Sanal O, Tinaztepe K, Ersoy F, Bakkaloglu A, et al. Development of systemic lupus erythematosus in a patient with selective complete C1q deficiency. Eur J Pediatr. 1997;156:113-5 pubmed
    ..Patients with recurrent infections, erythematous desquamative skin lesions, malar rash and oral mucosal involvement should be screened for complement C1q deficiency. ..
  22. Pinter E, Pek L. Dys- and paraproteinaemias in patients suffering from ophthalmic herpes zoster. Ger J Ophthalmol. 1994;3:116-9 pubmed
    ..These alterations were comparable with the extent and severity of the pathological processes. Para-proteins were detected in 12% of the patients. In contrast they were not present in the control group. ..
  23. Yoshii C, Kurita Y, Noda Y, Kido M. A case of angioimmunoblastic lymphadenopathy with dysproteinemia (AILD) together with total atelectasis of a lung caused by lymphadenopathy and pleural effusion. J UOEH. 2000;22:7-12 pubmed
    ..AILD should be taken into account as a disease which may cause atelectasis of a lung. ..
  24. Legnani C, Palareti G, Biagi R, Coccheri S, Bernardi F, Rosendaal F, et al. Activated protein C resistance: a comparison between two clotting assays and their relationship to the presence of the factor V Leiden mutation. Br J Haematol. 1996;93:694-9 pubmed
    ..It is concluded that further standardization of the commercial method here evaluated is necessary before it can be widely adopted for the screening of APC resistance and prediction of the presence of factor V Leiden. ..
  25. Nowak Gottl U, Koch H, Aschka I, Kohlhase B, Vielhaber H, Kurlemann G, et al. Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism. Br J Haematol. 1996;92:992-8 pubmed
    ..These data are evidence that APCR combined with exogenous reasons may play an important role in the early manifestation of thromboembolism during infancy and childhood. ..
  26. Delacour H, Desrame J, Bouhsain S, Bechade D, Lecoules S, Clerc Y. [A case of bisalbuminemia]. Ann Biol Clin (Paris). 2002;60:719-22 pubmed
  27. Hume R, Dagg J, Goldberg A. Refractory anemia with dysproteinemia: long-term therapy with low-dose corticosteroids. Blood. 1973;41:27-35 pubmed
  28. Groblewska M, Mroczko B, Szmitkowski M. [Serum proteins: clinical usefulness of determination and electrophoresis in various diseases]. Pol Arch Med Wewn. 2003;109:641-50 pubmed
  29. Drew M. Plasmapheresis in the dysproteinemias. Ther Apher. 2002;6:45-52 pubmed
    ..Results of published studies, case reports, and the author's experience in treating these diseases will serve as the foundation for discussion. ..
  30. Liang K, Vaziri N. HMG-CoA reductase, cholesterol 7alpha-hydroxylase, LCAT, ACAT, LDL receptor, and SRB-1 in hereditary analbuminemia. Kidney Int. 2003;64:192-8 pubmed
    ..Unlike nephrotic syndrome, which causes severe LDL receptor, HDL receptor, and LCAT deficiencies, hereditary analbuminemia does not affect these proteins. ..
  31. Pérez Vera C, Diniz P, Pultorak E, Maggi R, Breitschwerdt E. An unmatched case controlled study of clinicopathologic abnormalities in dogs with Bartonella infection. Comp Immunol Microbiol Infect Dis. 2013;36:481-7 pubmed publisher
    ..26; 95% CI: 1.31-14.41]. With the exception of weight loss and hypoglobulinemia, clinicopathologic abnormalities in Bartonella-infected dogs in this study were similar to dogs suspected of other vector-borne infections. ..
  32. Schmidtke K, Endres W, Roscher A, Ibel H, Herschkowitz N, Bachmann C, et al. Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study. Eur J Pediatr. 1992;151:899-903 pubmed
    ..Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described...
  33. Baz Alonso M, Pérez Guerrero J, Santos Perez J, Sánchez Navarro R. [Bisalbuminemia and bisalbuminuria: a study of a familial case]. Rev Clin Esp. 1992;191:83-5 pubmed
    ..With immunoelectrophoresis its immune identity with common albumin was established. The biochemical parameters assessed did not show any alteration which could correlate the protein disorder with any associated pathology. ..
  34. Kuhli C, Scharrer I, Koch F, Hattenbach L. Recurrent retinal vein occlusion in a patient with increased plasma levels of histidine-rich glycoprotein. Am J Ophthalmol. 2003;135:232-4 pubmed
  35. Gili C, Bonsembiante F, Bonanni R, Giordano A, Ledda S, Beffagna G, et al. Detection of hereditary bisalbuminemia in bottlenose dolphins (Tursiops truncatus, Montagu 1821): comparison between capillary zone and agarose gel electrophoresis. BMC Vet Res. 2016;12:172 pubmed publisher
    ..We report for the first time the presence of hereditary bisalbuminemia in two groups of related bottlenose dolphins identified by means of CZE and we confirm that AGE could fail in the identification of this alteration. ..
  36. Kose G, Arhan E, Unal B, Ozaydin E, Guven A, Sayli T. Valproate-associated coagulopathies in children during short-term treatment. J Child Neurol. 2009;24:1493-8 pubmed publisher
    ..To the best of our knowledge, our report is the first in the medical literature, which describes that valproate significantly reduces factor VII levels even during short-term therapy. ..
  37. Cuellar M, Garcia C, Molina J. Cryoglobulinemia and other dysproteinemias, familial Mediterranean fever, and POEMS syndrome. Curr Opin Rheumatol. 1995;7:58-64 pubmed
    ..The role of cytokines has been better delineated for both monoclonal gammopathies and POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome. ..
  38. Rameix Welti M, Regnier C, Bienaime F, Blouin J, Schifferli J, Fridman W, et al. Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited. Eur J Immunol. 2007;37:1377-85 pubmed
    ..Our results provide evidence that R499S represents a loss-of-function polymorphism of C7 due to a defective folding of the protein. ..
  39. Peters T, Holowachuk E, McIncrow R, Campagnoli M, Galliano M. Albumin locust valley: a new case of analbuminemia. Clin Biochem. 2006;39:904-6 pubmed
    ..Data define a bona fide case of analbuminemia. We suggest that the mutation causing the analbuminemic trait in this subject might involve a remote regulatory element. ..
  40. Shimizu A, Nakanishi T, Miyazaki A. Detection and characterization of variant and modified structures of proteins in blood and tissues by mass spectrometry. Mass Spectrom Rev. 2006;25:686-712 pubmed
    ..We found unique modified structures of TTR that suggested changes in amyloid fibrils. ..
  41. Bellomo A, Mancinella M, Troisi G, Marigliano V. A rare familiar case of hereditary bisalbuminemia and diabetic predisposition: a possible predictive link?. Arch Gerontol Geriatr. 2010;50:345-6 pubmed publisher
    ..As a result of such high probability we are eager to continue further search at our medicine predictive centre. ..
  42. Ebert R, Bell W. Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit. Thromb Res. 1988;51:251-8 pubmed
    ..The evidence suggests that an internal sequence of 10-15 residues is missing from the gamma-subunit of the abnormal fibrinogen. ..
  43. Favaloro E, Kershaw G, Bukuya M, Hertzberg M, Koutts J. Laboratory diagnosis of von Willebrand disorder (vWD) and monitoring of DDAVP therapy: efficacy of the PFA-100 and vWF:CBA as combined diagnostic strategies. Haemophilia. 2001;7:180-9 pubmed
    ..Furthermore, the combined utility of the PFA-100 and vWF:CBA as markers of DDAVP responsiveness may prove to be simple, quick but powerful, predictors for its clinical efficacy. ..
  44. Refetoff S, Robin N, Alper C. Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. J Clin Invest. 1972;51:848-67 pubmed
    ..These observations suggest that all the TBG abnormalities thus far observed reflect mutations at a single X-linked locus involved in the control of TBG synthesis. ..
  45. Tissot J, Vu D, Aubert V, Schneider P, Vuadens F, Crettaz D, et al. The immunoglobulinopathies: from physiopathology to diagnosis. Proteomics. 2002;2:813-24 pubmed
    ..Here, we review the mechanisms of B-cell differentiation and Ig synthesis, discuss the diseases associated with clonal Ig production and review the methods available in the clinical laboratory for Ig analysis. ..
  46. Morrisett J, David J, Pownall H, Gotto A. Interaction of an apolipoprotein (apoLP-alanine) with phosphatidylcholine. Biochemistry. 1973;12:1290-9 pubmed
  47. Michiels J, Stibbe J, Bertina R, Broekmans A. Effectiveness of long term oral anticoagulation treatment in preventing venous thrombosis in hereditary protein S deficiency. Br Med J (Clin Res Ed). 1987;295:641-3 pubmed
    ..5. It is concluded that the benefits of anticoagulant treatment for patients with congenital thrombotic disease are great, and thus it is necessary to make an early diagnosis and treat patients at risk of developing thrombosis. ..
  48. Kumaravel T, Tanaka K, Arif M, Ohshima K, Ohgami A, Takeshita M, et al. Clonal identification of trisomies 3, 5 and X in angioimmunoblastic lymphadenopathy with dysproteinemia by fluorescence in situ hybridization. Leuk Lymphoma. 1997;24:523-32 pubmed
    ..An increase in the histopathological stage was reflected in the increase in the percentage of trisomy 3 cells in one patient. ..
  49. Markova V, Nenova I, Deneva T, Beleva E, Grudeva Popova J. Electrophoretic finding of bisalbuminemia. Clin Lab. 2013;59:199-201 pubmed
    ..This is the first report of inherited bisalbuminemia in the Plovdiv region and could be of great interest to laboratory practitioners and clinicians providing some new data on the protein evolution and the clinical approach. ..
  50. Lloyd J. Lipoprotein deficiency disorders. Bristol Med Chir J. 1969;84:159-65 pubmed
  51. Preston F, Rosendaal F, Walker I, Briet E, Berntorp E, Conard J, et al. Increased fetal loss in women with heritable thrombophilia. Lancet. 1996;348:913-6 pubmed
    ..Our findings have important implications for therapy and provide a rationale for clinical trials of thromboprophylaxis for affected women with recurrent fetal loss. ..
  52. Hashefi M, McHugh T, Smith G, Elwing T, Burns R, Walker S. Seropositive rheumatoid arthritis with dermatomyositis sine myositis, angioimmunoblastic lymphadenopathy with dysproteinemia-type T cell lymphoma, and B cell lymphoma of the oropharynx. J Rheumatol. 2000;27:1087-90 pubmed
    ..Two years after AILD and T cell lymphoma were diagnosed, she developed a B cell lymphoma that involved the oropharynx. ..
  53. Vittu C, Forzy G, Wiart T. [Serum bisalbuminemias: their clinical value]. Ann Pharm Fr. 1991;49:227-31 pubmed
    ..They could be hereditary or acquired. This double band is composed of a protein with a normal mobility and with a protein with an other mobility which migrates in a more anodic or more cathodic position. ..