Partial Albinism, Immunodeficiency, and Progressive White Matter Disease: A New Primary Immunodefiency
| Autor: | Bo Hainau, Rajeh Sabbah, Harb A. Harfi, Jan Brismar |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Male
Pulmonary and Respiratory Medicine Partial albinism Albinism business.industry Pokeweed mitogen Immunologic Deficiency Syndromes Hepatosplenomegaly Bone marrow failure Infant Cutaneous anergy General Medicine medicine.disease Pancytopenia Child Preschool Immunology Primary immunodeficiency Humans Immunology and Allergy Medicine Female medicine.symptom business Immunodeficiency Demyelinating Diseases |
| Zdroj: | Allergy and Asthma Proceedings. 13:321-328 |
| ISSN: | 1088-5412 |
| Popis: | We studied 12 children who presented with a recently recognized syndrome. The salient features of this new syndrome were recurrent fever; hepatosplenomegaly; pancytopenia; blond, golden to silvery gray hair; hypopigmented skin, progressive white matter demyelination; and early death. Seven patients died, four with severe central nervous system (CNS) involvement, and three with bone marrow failure and sepsis. Cutaneous anergy to recall antigens was present in all patients. Other immunological abnormalities were poor antibody responses; deficient T-cell responses to phytohemagglutinin (PHA), concanavalin A (Con-A), and allogeneic lymphocytes; hyperresponsiveness of B lymphocytes to pokeweed mitogen; and variable phagocytic defects. Histopathologic examination of the hair and skin biopsies showed characteristic distribution of melanin with melanocytes present in normal numbers but with fewer short dendritic processes. Langerhans' cells were present in normal numbers in some patients and sparse in others. This syndrome seems to cluster into two tribes from two different geographical areas in the Arabian Peninsula. In the eight families studied, 12 other siblings and close relatives were found to be affected. The mode of inheritance in this syndrome is that of an autosomal recessive pattern. We propose the term "PAID syndrome" to identify patients with the above features. |
| Databáze: | OpenAIRE |
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