Combined neutrophil and T-cell deficiency: initial report of a kindred with features of the hyper-IgE syndrome and chronic granulomatous disease

The American Journal of Medicine
M F RobinsonK Cheung

Abstract

A six year old female presented with a recent history of pyoderma gangrenosum involving her legs and arms associated with an episode of Mycoplasma-like pneumonia. This was followed by Aspergillus osteomyelitis involving her left ulna and right femur. Both the skin lesions and the osteomyelitis responded to prolonged treatment with antifungal and antibiotic agents. Investigation of this patient revealed (1) an elevated serum IgE (4,800 units/ml), (2) defect in neutrophil chemotaxis that appeared to be due to immune complexes, (3) an abnormal nitroblue tetrazolium (NBT) result (0 percent stimulated and unstimulated), and (4) depressed mitogen responses to concanavalin A, phytohemagglutinin, and pokeweed mitogen, negative results of intradermal skin tests, and negative dinitrochlorobenzene (DNCB) sensitization. The patient's clinically unaffected sibling had similar findings except for a positive DNCB response. In both children, intracellular bacterial killing of catalase-positive and negative organisms was normal. Kindred studies revealed widespread T-cell abnormalities consistent with autosomal dominant inheritance. Tissue typing studies showed that affected siblings shared the A1, B8, DR3 haplotype. This kindred is unique in th...Continue Reading

Citations

Oct 28, 2008·Pediatric Dermatology·David R Berk, Susan J Bayliss
Dec 11, 2008·Pediatric Dermatology·Anisha J Mehta, Carolyn R Charman
Mar 3, 2009·Pediatric Dermatology·Neil RajanAndrew Carmichael
Feb 6, 2007·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Kate L McCarthyMichael Whitby
Aug 22, 2006·Pediatric Dermatology·Antonio TorreloAntonio Zambrano
Aug 3, 2017·Medicine·Sideris NanoudisSymeon Metallidis
Sep 1, 1996·European Journal of Pediatrics·H S al-RimawiM M Oboosi
Mar 1, 1994·Pediatric Dermatology·J A GrahamN B Esterly
Feb 25, 2017·International Journal of Dermatology·Elio KechichianRoland Tomb
Dec 1, 1995·The British Journal of Dermatology·C P SamlaskaD A Person

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