Genetic factors predisposing to autoimmune diseases: Autoimmune hemolytic anemia, chronic thrombocytopenic purpura, and systemic lupus erythematosus

doi:10.1016/0002-9343(82)90773-2

The American Journal of Medicine

Volume 73, Issue 6, December 1982, Pages 827-840

https://doi.org/10.1016/0002-9343(82)90773-2 Get rights and content

Abstract

Genetic factors predisposing to autoimmune diseases were investigated in 10 families having more than one affected member. Seventy relatives and 23 spouses from two large kindreds (one in whom the proband had autoimmune hemolytic anemia and the other immune thrombocytopenic purpura) were examined for immunologically mediated disorders, autoantibodies, immunoglobulin abnormalities, and HLA genotypes. Significant differences between relatives and spouses were found for immune diseases (21 percent versus 0 percent; p = 0.02), antinuclear antibody titer of 1:80 or more (18 percent versus 0 percent; p = 0.04), single-strand DNA antibodies (18 percent versus 0 percent; p = 0.04), high-titer anti-nuclear antibody or antibodies to single-strand DNA or both (33 percent versus 0 percent; p = 0.001), and the combined frequencies of immune diseases and serologic abnormalities (44 percent versus 4 percent; p = 0.0004). Similar frequencies were found in 41 relatives from eight families in whom the proband had SLE. Segregation analyses using these abnormalities as genetic traits were most compatible with a Mendelian dominant model. Impressive odds (100:1) against linkage to HLA were calculated.

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Valorar la evolución, así como la respuesta al tratamiento, de los pacientes afectados de púrpura trombocitopénica inmune crónica persistente y recurrente
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De 38 pacientes afectados de púrpura trombocitopénica inmune crónica, 16 (42 %) correspondieron a formas crónicas y 22 (58 %) se consideraron formas recurrentes. No se encontraron diferencias significativas entre ambos grupos en cuanto a sexo, edad al diagnóstico, tiempo de seguimiento, infección viral previa, así como presencia de anticuerpos antiplaquetarios. En las formas recurrentes, el tratamiento médico más eficaz fue la gammaglobulina por vía intravenosa (77 % de respuestas favorables), pero la duración de la respuesta fue corta (media, 22,1 semanas). El 63 % de las formas crónicas persistentes obtuvieron una remisión completa mediante esplenectomía. Seis pacientes de ambos grupos, tratados con gammaglobulina anti-D, obtuvieron resultados favorables. El 4,5 % de las formas recurrentes y el 31,5 % de las persistentes remitieron de forma espontánea durante el período de estudio
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^☆: This study was supported by OPD/CRC grant 5 M01RR00722; short-term training grant TT 35AMO7384; RO1AM20656; and Multipurpose Arthritis Center grant IP60AM20558.

^∗: Present address: Harbor General Hospital, Department of Medicine, Torrance, California 90509.

¹: From the Hematology, Rheumatology, Clinical Immunology, and Medical Genetics Divisions, Department of Medicine, and Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

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Clinical studyGenetic factors predisposing to autoimmune diseases: Autoimmune hemolytic anemia, chronic thrombocytopenic purpura, and systemic lupus erythematosus☆

Abstract

Am J Med

Lancet

Am J Med

Am J Med

Am J Med

Blood

Blood

Clin Chim Acta

Hum Immunol

Am J Med

Am J Med

The haemolytic anaemias, congenital and acquired. Part II. The autoimmune haemolytic anaemias

Autoimmunization and the autoimmune hemolytic anemias

Primary thrombocytopenic purpura and acquired hemolytic anemia: evidence for a common etiology

Arch Intern Med

Systemic lupus erythematosus: review of the literature and clinical analysis of 138 cases

Medicine (Baltimore)

Immunologic precursors of autoimmune hematologie disorders: autoimmune hemolytic anemia and thrombocytopenic purpura

Johns Hopkins Med J

Coexistent idiopathic thrombocytopenic purpura and hyperthyroidism

Ann Intern Med

Graves' disease and idiopathic thrombocytopenic purpura

Am J Med Sci

Autoimmune thrombocytopenia and Hashimoto's thyroiditis

Ann Intern Med

Hashimoto's thyroiditis, myasthenia gravis, idiopathic thrombocytopenic purpura

Ann Intern Med

Graves' disease, myasthenia gravis, and purpura

Ann Intern Med

Association between thyrotoxicosis and thrombocytopenia: a case report and review of the literature

Isr J Med Sci

Effect of Graves' disease on idiopathic thrombocytopenic purpura

Arch Intern Med

Association of hyperthyroidism with idiopathic thrombocytopenic purpura and haemolytic anaemia

Acta Med Scand

Graves' disease and idiopathic thrombocytopenic purpura

Arch Intern Med

Easy bruising, thrombocytopenia and elevated platelet immunoglobulin G in Graves' disease and Hashimoto's thyroiditis

Ann intern Med

Autoimmune hemolytic anemia and ulcerative colitis: a multisystem immunodeficiency disease?

Int Arch Allergy Appl Immunol

Autoimmune hemolytic anemia in ulcerative colitis: report of three cases, review of the literature, and evaluation of modes of therapy

Dig Dis Sci

Myasthenia gravis and focal glomerulonephritis following idiopathic thrombocytopenic purpura: a possible common etiology

Mt Sinai J Med (NY)

Myasthenia gravis, rheumatoid arthritis, vitiligo, and autoimmune haemolytic anemia

Myasthenia gravis, thrombocytopenia and HLA antigens

Ann Intern Med

Autoimmune granulocytopenia

Annu Rev Med

Maladie de Biermer et purpura thrombocytopenique chronique auto-immuns. Une association exceptionnelle

Nouv Presse Med

IgA deficiency and autoimmune haemolytic anaemia

Scand J Haematol

Selective absence of IgA. Autoimmune phenomena and autoimmune disease

Am J Pathol

Autoimmune hemolytic anemia in a child with congenital X-linked hypogammaglobulinemia

N Engl J Med

Antinuclear antibodies in Coombs-positive acquired hemolytic anemia

Vox Sang

Tissue antibodies in idiopathic autoimmune haemolytic anaemia

Clin Exp Immunol

Autoimmune hemolytic anemia; clinical correlations and biological implications

Possible NZB syndrome in man

Arch Intern Med

Cyclic thrombocytopenia associated with multiple autoantibodies

Br Med J

Immunodeficiency and grouping with thyrogastric autoimmune disease in patients with chronic idiopathic thrombocytopenic purpura

Aust NZ J Med

Rôle probable d'un facteur héréditaire dans le déterminisme de certaines anémies hémolytiques par auto-anticorps

Nouv Rev Fr Hematol

Chronic idiopathic thrombocytopenic purpura. A familial immunodeficiency syndrome?

JAMA

Studies in familial systemic lupus erythematosus

Medicine (Baltimore)

Hereditary hyperglobulinemia and systemic lupus erythematosus

Acta Med Scand

Familial systemic lupus erythematosus

Clinical study
Genetic factors predisposing to autoimmune diseases: Autoimmune hemolytic anemia, chronic thrombocytopenic purpura, and systemic lupus erythematosus☆