Partial Albinism, Immunodeficiency, and Progressive White Matter Disease: A New Primary Immunodefiency

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Abstract:

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.

Document Type: Research Article

DOI: http://dx.doi.org/10.2500/108854192778816933

Publication date: November 1, 1992

More about this publication?
  • Allergy and Asthma Proceedings is a peer reviewed publication dedicated to distributing timely scientific research regarding advancements in the knowledge and practice of allergy, asthma and immunology. Its primary readership consists of allergists and pulmonologists.

    The goal of the Proceedings is to publish articles with a predominantly clinical focus which directly impact quality of care for patients with allergic disease and asthma.

    Featured topics include asthma, rhinitis, sinusitis, food allergies, allergic skin diseases, diagnostic techniques, allergens, and treatment modalities. Published material includes peer-reviewed original research, clinical trials and review articles.

    Articles marked "F" offer free full text for personal noncommercial use only.

    The journal is indexed in Thomson Reuters Web of Science and Science Citation Index Expanded, plus the National Library of Medicine's PubMed service.
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