A Fatal Granulomatous Disease of Childhood

Abstract

In 1950, a 12-month-old child was referred to the University of Minnesota Hospitals with a syndrome consisting of chronic suppurative lymphadenitis, hepatosplenomegaly, pulmonary infiltrations, and an eczematoid dermatitis about the eyes, nose, and mouth. Since then we have seen three other children with an almost identical clinical picture. This syndrome appears to be a distinct clinical entity not previously described in the medical literature. This durated matted lymph nodes were still present in the inguinal areas. The liver edge was palpable 2 cm. below the right costal margin. There were no further positive findings in the remainder of the physical examination. The family history was negative. This child had two normal older siblings, one brother and one sister. Except for the present illness the child's past history was not remarkable. On admission he had a hemoglobin of 8.9 gm/100 ml. with a white blood cell count of 17,000 (neutro¬ phils 68, lymphocytes 29, monocytes 2, eosinophils 1 ). A urinalysis was negative. The sedimentation rate was 44 mm. in one hour (Westergren). A blood culture was sterile. Stool cultures were also negative. The total serum protein was 7.6 gm/100 ml. with an albumin of 4.4 gm/100 ml. and a globu¬ lin of 3.2 gm/100 ml. Both a Wassermann and a Kline test were negative. A 1:1,000 tuberculin skin test was negative. On incision and drainage of the

Studies of the Metabolic Activity of Leukocytes from Patients with a Genetic Abnormality of Phagocytic Function*

“…It was demonstrated that the leukocytes of all eight mothers and several sisters were intermediate in bactericidal capacity and tetrazolium reduction between leukocytes of affected boys and controls. This demonstration of female carriers indicates the sex-linked character of chronic granulomatous disease and adds considerable weight to the earlier suggestion that chronic granulomatous disease is inherited in a sex-linked manner (10,12). These genetic data are certainly a sound indication that a single enzyme is lacking or deficient in the leukocytes of patients with this disease.…”

“…A chronic fatal granulomatous disease of childhood has been separated from the many granulomatous diseases of childhood and defined as a clinical entity by Berendes et al (9) and Bridges 1422 et al (10). This disease is characterized by apparent sex-linked inheritance, increased frequency of infections, chronic suppurative and granulomatous lymphadenitis, parenchymatous granulomatous infiltrations, and episodes of infected and eczematoid dermatitis.…”

Patients with Chronic Granulomatous Disease Have a Reduced Peripheral Blood Memory B Cell Compartment

“…3 is a primary immunodeficiency disorder caused by inherited defects in the NADPH oxidase complex (1)(2)(3). This enzyme complex is used by phagocytic cells to generate microbicidal superoxide and its metabolites hydrogen peroxide, hydroxyl anion, and hypohalous acid (4).…”

Processing and presentation of tetanus toxin by antigen-presenting cells from patients with chronic granulomatous disease (CGD) to human specific T cell clones are not impaired

“…We conclude from our results that the deficiency in oxygen metabolism by CGD cells does not affect antigen processing and presentation either by macrophages, dendritic or B cells. This explains the normal synthesis of antibodies to tetanus toxin and other antigens in these patients after vaccination [26].…”