The Congenital Agammaglobulinemias

Abstract

THE FIRST type of agammaglobulinemia reported was an X-linked recessive disease characterized by recurrent bacterial infections, very low serum immunoglobulins,* and absence of antibody responses.1 Many other types have since been recog-nized2-5 and a short classification of the agammaglobulinemias is listed in Table 1. Each type appears to be distinct, and each is probably the result of a different defect in the maturation and function of immunologic mechanisms.The purpose of this report is to present studies of seven patients with agammaglobulinemia. These studies indicate that cases currently called congential sporadic agammaglobulinemia may be a heterogeneous group with different defects of immunity.Agammaglobulinemia is used here in the generic sense to mean a group of related diseases which are characterized by low serum immunoglobulins, impaired antibody response, and abnormal lymphoid morphology. The use of agammaglobulinemia in this sense is comparable to the use of anemia to indicate diseases of red blood cells. Report of CasesCase 1.-This 11-year-old girl is one of identical twins (case 2). She had recurrent colds and otitis media from early infancy. Lat¬ er she had uncomplicated primary vaccination, measles, and chickenpox. At one age of 3 years she began having recurrent episodes of pneu¬ monia which required hospitalization almost monthly. At age 6 she was found to have agam¬ maglobulinemia and was referred to University Hospital. She was of small stature and had chronic otitis media, pneumonia, and small cer¬ vical and inguinal lymph nodes. Cultures of the throat and sputum on subsequent visits often grew out Haemophilus influenza. Bronchograms at age 8 demonstrated bronchiectasis of the lingula and left lower lobe. X-ray films of the nasopharynx showed a decreased amount of lymphoid tissue.She was started on therapy with -globulin, postural drainage, and antibiotics as indi¬ cated. She continued to have recurrent pneu¬ monia and otitis media, and at age 8 underwent surgical resection of bronchiectatic portions of the left lung. Since then she has been treated with -globulin and several courses of continu¬ ous tetracyline therapy. She has improved but continues to have recurrent colds, otitis media,

Hereditary Alterations in the Immune Response: Coexistence of ‘Agammaglobulinemia', Acquired Hypogammaglobulinemia and Selective Immunoglobulin Deficiency in a Sibship

“…In primary acquired hypogammaglobulinemia, repeated infections associated with low gamma globulins usually begin between 15 and 35 years of age [27,31], but a number of examples have been reported in children under 15 years of age [12,14,20,31,55]. The splenic enlargement noted in this boy is not unique: it has been observed in several other instances of hypogammaglobulinemia [15,18,50,57].…”