Immunodeficiency with dwarfism

Variant forms of severe combined immunodeficiency have been described. These include cases with dysostosis (short-limbed dwarfism) and rare cases with generalized haematopoietic hypoplasia " The latter has been called reticular dysgenesia. Infants with this type of immunodeficiency also lack granulocytic precursors in the bone marrow and granulocytes from peripheral blood and survive for only a short time after birth. Nezelof syndrome, which is severe combined immunodeficiency with normal immunoglobulins is a specious diagnosis, and the term should be dropped. This variant is included in the term severe combined immunodeficiency. 

Immunodeficiency with short-limbed dwarfism is an autosomal recessive disorder ". Antibody and cell-mediated immunity is defective. From the first few weeks after birth, there is a severe scaling erythroderma with large coarse scales (Figure 15.1) some areas are free, in others the symptoms rapidly subside for short periods of time then reappear. Histologically the stratum corneum shows parakeratosis and hyperkeratosis and contains some neutrophils. There is an absence of the granular layer, papillomatosis and a moderate acanthosis with many mitoses. There is a mononuclear infiltrate in the upper and papillary dermis. 

Figure 15.1 Ichthyosiform erythroderma and immunodeficiency with short-limbed dwarfism in a 16-month-old girl...

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