Incontinentia pigmenti. Evidence for both neutrophil and lymphocyte dysfunction

Abstract

A child with incontinentia pigmenti (Bloch-Sultzberger syndrome) had recurrent pneumococcal meningitis and pneumococcal bacteremia with associated subdural hematomas. Immunologic evaluation revealed defective neutrophil chemotaxis with normal neutrophil chemiluminescense. In addition, lymphocytes showed a depressed proliferative response to phytohemagglutinin stimulation. An immunologic defect may prove to be part of this syndrome.

Immunologic Investigations in Eight Patients with Incontinentia Pigmenti

“…We found defective chemotaxis of the PMNs in 75% of our patients, a fmding occasionally reported by other investigators (1,2). The defect we saw should be considered primarily a cellular defect, because the patients' sera did not inhibit chemotaxis of control PMNs.…”

“…These include the description in some patients with IP of associated defects in leukocyte chemotaxis (I), lymphocyte defects (2). or Behget's disease (3).…”

Incontinentia pigmenti: XXY male with a family history

“…a) The above-mentioned altered neutrophilic chemotaxis reported by Dahl et al (1975), Jessen et al (1978) and Menni et al (1 986), the latter case being accompanied by the Behcet syndrome. b) An increase in immunoglobulins E, also found by Dahl et al (1975).…”

Genetic Syndromes with Evidence of Immune Deficiency

“…116 No consistent immunologic abnormality has been detected, but decreased neutrophil chemotaxis and impaired proliferative response to phytohemagglutinin have been described in a few individuals. 117,118 The gene encoding IKKγ, also termed NEMO, causes incontinentia pigmenti. 119 The protein is involved in the regulation of phosphorylation and subsequent degradation of IκB, an inhibitor of nuclear factor-κB (NF-κB).…”