Familial autoimmune cytopenia

M. Kumar, J. B. Alperin, N. Goel, K. H. Palkowetz, A. S. Goldman

Research output: Contribution to journalArticle

Abstract

We report three members of a family with thrombocytopenia, hemolytic anemia, and neutropenia associated with autoantibodies, and other immunological abnormalities. They do not demonstrate autoimmune manifestations of glomerulitis, skin rashes, arthritis, lymphadenopathy or splenomegaly to suggest autoimmune lymphoprliferative syndrome (ALPS). While Evans Syndrome (autoimmune hemolytic anemia and thrombocytopenia) is well described, our family is unique in their presentation of all three cytopenias in a varying manner in multiple family members. In this report we describe the clinical disease in the affected family members and demonstrate evidence of underlying subtle immune defects. This suggests an inherited genetic defect affecting immune function and resulting in isolated autoimmune cytopenias.

Original languageEnglish (US)
Pages (from-to)269-274
Number of pages6
JournalInternational Journal of Pediatric Hematology/Oncology
Volume7
Issue number4
StatePublished - 2001
Externally publishedYes

Fingerprint

Thrombocytopenia
Autoimmune Hemolytic Anemia
Hemolytic Anemia
Splenomegaly
Exanthema
Neutropenia
Autoantibodies
Arthritis
Evans Syndrome
Lymphadenopathy

Keywords

  • Apoptosis
  • Autoimmune cytopenia
  • Autoimmune lymphoproliferative syndrome
  • Fas mutation
  • Idiopathic thrombocytopenic purpura

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Pediatrics, Perinatology, and Child Health

Cite this

Kumar, M., Alperin, J. B., Goel, N., Palkowetz, K. H., & Goldman, A. S. (2001). Familial autoimmune cytopenia. International Journal of Pediatric Hematology/Oncology, 7(4), 269-274.

Familial autoimmune cytopenia. / Kumar, M.; Alperin, J. B.; Goel, N.; Palkowetz, K. H.; Goldman, A. S.

In: International Journal of Pediatric Hematology/Oncology, Vol. 7, No. 4, 2001, p. 269-274.

Research output: Contribution to journalArticle

Kumar, M, Alperin, JB, Goel, N, Palkowetz, KH & Goldman, AS 2001, 'Familial autoimmune cytopenia', International Journal of Pediatric Hematology/Oncology, vol. 7, no. 4, pp. 269-274.
Kumar M, Alperin JB, Goel N, Palkowetz KH, Goldman AS. Familial autoimmune cytopenia. International Journal of Pediatric Hematology/Oncology. 2001;7(4):269-274.
Kumar, M. ; Alperin, J. B. ; Goel, N. ; Palkowetz, K. H. ; Goldman, A. S. / Familial autoimmune cytopenia. In: International Journal of Pediatric Hematology/Oncology. 2001 ; Vol. 7, No. 4. pp. 269-274.
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