[Autoimmune neutropenia disclosing AIDS in a child]. / Neutropénie autoimmune révélatrice d'un SIDA chez l'enfant.

A 15 month old child with a history of multiple infectious diseases was admitted to hospital for investigation of pyrexia and general ill health. She was anaemic with a persistent neutropaenia associated with hypergamma globulinemia, indicating intense autoimmune activity: cellular immunity was abnormal with a normal total lymphocyte count but a very low T4/T8 ratio. HIV serology was positive; the virus was isolated from a lymph node biopsy specimen. The parents for the child were HIV positive and the father went on to develop full blown AIDS. The neutropaenia was constant over the two years of follow-up and granulo-immunofluorescence studies suggested an autoimmune origin. In contrast to autoimmune thrombocytopaenia and haemolytic anaemia, autoimmune neutropaenia is a rare condition. A few cases have been reported in adult AIDS. Our case is of additional interest as it illustrates the vertical mode of transmission of AIDS.

H deficiency in two brothers with atypical dense intramembranous deposit disease.

We report an H deficiency in two Algerian brothers who had early-onset glomerulonephritis. In addition, one suffered from serious lung infections. The H deficiency was defined by undetectable CH50 and AP50, and low levels of H, C3 and B (less than 10% of normal levels). I and classical pathway components, including C4-bp were normal. CR1 was present on both patients' erythrocytes. No nephritic factor or other circulating alternative pathway activator was detected. The parents, who are first cousins, and a healthy brother and sister had half-normal levels of H. These findings favor an autosomal recessive transmission of the H defect. Although by electron microscopy renal biopsies from both patients were typical for dense intramembranous deposit disease, immunofluorescence microscopy showed an atypical pattern with abundant granular C3 deposits within the mesangium and along the capillary walls. Alternative pathway activators, possibly related to dense deposits, may allow the formation of membrane-associated C3/C5 convertases, unusually stable in the absence of H, since C5, C6, C7, C8 and C9 levels were decreased in both patients. This observation may represent an interesting clue to the relationship between nephritic factor, alternative pathway activation, and dense intramembranous deposit disease.

[Trisomy 13qter by tandem duplication 46, XX, dir dup 13 (q21 qter), 9qh+]. / Trisomie 13qter par duplication en tandem 46,xx,dir dup 13(q21 leads to qter),9qh+.

A tandem translocation of chromosome 13-46,XXdup13(q21 leads to qter)--occurred de novo in a patient with the following features: normal birthweight; early feeding difficulties; mild psychomotor retardation; low set hairline on the forehead; thick eyebrows; long, upturned eyelashes; pointed nose; micrognathia; large, flat, posteriorly rotated ears; multiple hemangiomata; normal hematological status. The hypothesis of an unequal crossing-over is discussed, as well as the possibility of constructing a phenotypic map of chromosome 13.