Inmunodeficiencias primarias en España. Datos del Registro Español de Inmunodeficiencias Primarias. REDIP 1980-1999

Florí, Núria Matamoros; Llambí, Joan Milá; Ves, Jaume Pons de

doi:10.1016/s0025-7753(00)71204-8

Cited by 10 publications

(1 citation statement)

References 7 publications

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“…The HIM is an uncommon primary immunodeficiency with recurrent pyogenic infections characterized by increased serum concentrations of IgM and low IgG and IgA levels (4). In Spain, only 33 cases were registered between 1980–99, although some affected individuals may remain unreported (6). X‐linked (the most frequent), autosomal recessive and sporadic forms of HIM had been reported.…”

Section: Discussionmentioning

confidence: 99%

Hyper‐IgM syndrome with CHARGE association

Bahillo

Cantero

et al. 2003

Pediatric Allergy Immunology

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A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life. She presented with repeated otitis. At 3 yr of age, the patient suffered a septicemia (Streptococcus pneumoniae, Corynebacterium sp.). The immunoglobulin G (IgG) and IgA serum levels were decreased, IgM increased and cellular immunity parameters were normal, supporting the diagnosis of hyper-IgM (HIM) syndrome. The sequence of CD40 ligand and cytidine deaminase genes were normal. From then on, she was receiving immunoglobulin intravenously with an excellent outcome. Here, we report the first case of CHARGE association and HIM syndrome in the same patient. Although the cause could not be identified, a non-random link is likely.

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Section: Discussionmentioning

confidence: 99%