Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse

The presence of these SNPs in patients with allergic rhinitis can lead to higher serum histamine, therefore to a higher risk of developing more severe symptoms or more associated allergic diseases, even if the serum IgE remains low.

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We suggest a synergistic association between HNMT and DAO functional polymorphisms and migraine; this hypothesis must be further confirmed by larger studies. However, the characteristics and ethnic differences between analysed populations should be considered when interpreting the results.

Chronic granulomatous disease (CGD) is characterized by defects in NADPH oxidase, causing phagocytes to improperly clear invading pathogens. Owing to lyonization, X-linked CGD carriers (XL-CGD) have a dual phagocyte population, with 20% to 80% functioning phagocytes. Neutrophils with inactivation of the mutated X chromosome in the CYBB gene have a normal respiratory burst, whereas neutrophils with inactivation of the normal X chromosome have a CGD phenotype [1-3]. XL-CGD carriers exhibit a variety of autoimmune manifestations, mainly lupus-like signs and symptoms [3-5]. Skin diseases include recurrent photosensitive rash, folliculitis, postadolescent acne, eczema, and oral aphthous ulcers [1]. Gastrointestinal manifestations include abdominal pain, intermittent diarrhea, rectal bleeding, and chronic inflammatory bowel disease [6]. Recurrent infections characteristic of CGD include recurrent skin abscesses, pneumonia, hidradenitis suppurativa, and liver abscesses [2,5]. Other symptoms are chorioretinitis and fatigue [7]. All of these symptoms have an impact on quality of life. No studies have documented the symptoms presented by XL-CGD carriers in Latin America. The aims of this study were to describe the main signs and symptoms of Mexican XL-CGD carriers and to correlate the percentage of neutrophils with normal production of hydrogen peroxide (H 2 O 2 +) and various clinical variables. Sixty-five XL-CGD carriers diagnosed from 2011 to 2018 were invited to participate, although not all accepted the invitation.