Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia

doi:10.1016/S0022-3476(69)80465-8

The Journal of Pediatrics

Volume 75, Issue 4, October 1969, Pages 675-684

https://doi.org/10.1016/S0022-3476(69)80465-8 Get rights and content

Lymphopenic agammaglobulinemia was associated with short-limbed dwarfism and ectodermal dysplasia in a brother and sister. Four similar cases have been reported as sporadic experiences. Our observations, together with these cases, indicate an autosomal recessive transmission and suggest a basic association between skin, bone, and immunologic development. the dwarfism in these children is not, as was previously suggested, characteristic of achondroplasia. One child died of a graft-versus-host reaction following blood transfusion, emphasizing the hazards of transfusion in lymphopenic immunologic disorders.

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^†: Supported by grants from The National Foundation, United States Public Health Service (Nos. HE-06314, AI-08677, AI-07726), and the Graduate School of the University of Minnesota.

^*: United States Public Health Service Training Grant No. T1-AM-5186.

^**: Research Career Development Awardee, United State Public Health Service.

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Original articleHereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia†

Lancet

Ataxiatelangiectasia and Swiss-type agammaglobulinemia

J. A. M. A.

A case of Swiss-type agamma-globulinemia and achondroplasia

Brit. M. J.

Agammaglobulinemia and achondroplasia

Brit. M. J.

Progressive vaccinia in immunologically deficient individuals

Unusual bone changes in thymic alymphoplasia

Ann. Radiol.

Number, size, and distribution of Peyer's patches in the human small intestine

Gut

Lymphopenic forms of congenital immunologic deficiency diseases

Medicine

Swiss-type agammaglobulinemia and achondroplasia

Brit. M. J.

Achondroplasia: Clinical, radiologic features with comment on genetic implications

Clin. Pediat.

Hypochondroplasia

Rev. Radiol.

Diastrophic dwarfism in early infancy

Am. J. Roentgenol.

Original article
Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia†