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Autosomal Recessive Form

Roger B. Cole, MD; Aniceto D'Sousa, MD; Robert A. Good, MD, PhD; Richard A. Gatti, MD; John R. Hoyer, MD

Am J Dis Child. 1969;118(5):748-758.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

A LYMPHOPENIC form of congenital immunologic deficiency and thymic hypoplasia was first described by Glanzmann and Riniker in 1950.¹ Subsequent detailed clinical, pathologic, and immunologic studies of siblings of each of the original two cases demonstrated the familial nature of this disorder and the associated defect of agammaglobulinemia.^2,3 Since the Swiss investigators have contributed heavily to the definition of this autosomal recessive disease, it is frequently referred to as the "Swiss type" agammaglobulinemia.

In contrast to the autosomal recessive inheritance in the Swiss material, most descriptions of lymphopenic hypogammaglobulinemia in the American literature have indicated a sex-linked recessive mode of inheritance. On the basis of recent detailed analyses of cases in Minneapolis and cases previously reported from Boston and Switzerland, it is apparent that the autosomal recessive and sex-linked recessive diseases are separate entities.⁴

Recently, a number of reports have appeared concerning children with various atypical forms . . . [Full Text PDF of this Article]

Author Affiliations
Chicago; Chicago and Minneapolis

From the Division of Cardiology and Pathology, Children's Memorial Hospital, and the Department of Pediatrics, Northwestern School of Medicine, Chicago; and the Pediatric Research Laboratories, Variety Club Heart Hospital, Minneapolis.

Footnotes
Received for publication Feb 10, 1969.

Reprint requests to the Department of Pediatrics, University of Minnesota, Minneapolis 55455 (Dr. Good).

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