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

1969; Elsevier BV; Volume: 75; Issue: 4 Linguagem: Inglês

10.1016/s0022-3476(69)80465-8

1097-6833

Richard A. Gatti, Norbert Platt, Herbert H. Pomerance, Richard Hong, Leonard O. Langer, H. E. M. Kay, Robert A. Good,

Blood groups and transfusion

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. 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.