Emília Faria

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations. The most recent common ancestors of the patients with the I87T and V63G mutations probably lived 1600 (875-2950) and 500 (200-1275) years ago, respectively. The two alleles confer phenotypes that are similar but differ in terms of IFN-γR1 levels and residual response to IFN-γ. The patients suffered from bacillus Calmette-Guérin-osis (n= 6), environmental mycobacteriosis (n= 6) or tuberculosis (n= 1). One patient did not suffer from mycobacterial infections but had disseminated salmonellosis, which was also present in two other patients. Age at onset of the first environmental mycobacterial disease differed widely between patients, with a mean value of 11.25 ± 9.13 years. Thirteen patients survived until the age of 14.82 ± 11.2 years, and one patient died at the age of 7 years, 9 days after the diagnosis of long-term Mycobacterium avium infection and the initiation of antimycobacterial treatment. Up to 10 patients are currently free of infection with no prophylaxis. The clinical heterogeneity of the 14 patients was not clearly related to either IFNGR1 genotype or the resulting cellular phenotype. RP-IFN-γR1 deficiency is, thus, more common than initially thought and should be considered in both children and adults with mild or severe mycobacterial diseases.

Pomegranate anaphylaxis due to cross-reactivity with Peach LTP (Pru p 3)

The pomegranate, the fruit of Punica granatum, belonging to Lythraceae family and commonly cultivated in the Mediterranean area, has been involved in some immediate reactions,1,2 including severe symptoms such as anaphylactic shock and laryngeal oedema.3,4 Cases of hypersensitivity reactions to pomegranate have been reported and the implication of 29-kDa1,2,4 and 9-kDa3 protein allergens has been described. Subsequent characterisation of the 9-kDa allergen demonstrated its belonging to the lipid transfer protein (LTP) family, a family widely distributed in fruits, vegetables and nuts, which has been suggested as being responsible for immunological cross-reactivity between fruits, nuts and/or pollens. Allergy cases involving LTPs from pomegranate and peach, hazelnut and peanut have been published.1--4 Furthermore, a study of LTPs in pomegranate identified and isolated two LTP isoforms with different IgE binding capacities [LTP1a (9-kDa) and 1b (7kDa)].5 We describe the case of an 18-year-old women, without history of allergic disease, who suffered from angio-oedema, generalised urticaria, glottis oedema, vomiting, abdominal pain and malaise five to ten minutes after ingesting a pomegranate. Three years before she had two episodes of angio-oedema and urticaria after apple ingestion and one episode of urticaria, abdominal pain and angio-oedema after drinking pear juice. The patient did not develop any kind of allergic symptoms after performing a Rosaceae and pomegranate free diet. The patient underwent skin prick tests with a commercial extract panel of common inhalants, fruits, vegetables and nuts allergens (Leti laboratories, Spain) and the results were positive to Dermatophagoides pteronyssinus, grass pollen, mugwort pollen, peach, apple, pomegranate, strawberry, cherry, almond, peanut, tomato, bell pepper, green beans, black bean and soybean seed. Prick test with profilin and LTP extract (Alk Abelló, Madrid, Spain) were positive. Prick-prick test with fresh pomegranate was pos-

Food anaphylaxis to mushrooms

Background We report the case of a 17year-old male that suffered from a systemic anaphylactic episode during exercise fifty minutes after the ingestion of mushrooms cooked with wine in a restaurant. This anaphylaxis occurred at the age of 16 when the patient was playing handball indoors with a high level of humidity. The patient stopped mushrooms ingestion. There were no symptoms when the exercise occurred after the ingestion of other kinds of food, and no more anaphylactic episodes occurred. This patient suffered from persistent rhinosinusitis since the age of 10 years old.

Drug reaction with eosinophilia and systemic symptoms caused by spironolactone: Case report

Allergy and Clinical Immunology Unit, Coimbra University Hospital, Coimbra Hospital and University Centre, Coimbra, Portugal Immunology Institute, Faculty of Medicine, Coimbra University, Coimbra, Portugal Portuguese Institute of the Blood and Transplantation, IP Blood and Transplantation Center of Coimbra, Coimbra, Portugal Dermatology Unit, Coimbra University Hospital, Coimbra Hospital and University Centre, Coimbra, Portugal Correspondence Rosa Anita Fernandes, MD Serviço de Imunoalergologia, Centro Hospitalar e Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal. Email: rosa.fernandes.alergo@gmail.com

Gluten-free diet: a possible treatment for chronic diarrhoea in common variable immunodeficiency

Gastrointestinal disorders are frequent in common variable immunodeficiency (CVID). Clinical symptoms and histological alterations in CIVD can resemble celiac disease. Usually, patients with chronic diarrhoea associated with CVID do not improve with a gluten-free diet. The authors present a case of a male patient who was diagnosed with CVID at age 33 and had chronic diarrhoea which resolved after initiating a gluten-free diet. Clinical relapse occurred after gluten reintroduction. The main objective of this case report is to alert clinicians to implement a gluten-free diet in patients with CVID with chronic diarrhoea.

Letter to the Editor: Primary Immunodeficiencies in Adults – Multicentric Cooperation to Characterize the Portuguese Reality

REFERENCES 1. Revés J, Silva BM, Durão J, Ribeiro NV, Lemos S, Escada P. Predatory publishing: an industry threatening science. Acta Med Port. 2018;31:1413. 2. Clark J. Letter to the editor predatory journals: bad for all but especially authors from low and middle income countries. Acta Med Port. 2018;31:181-5. 3. Beall J. Beall’s list of predatory journals and publishers. [accessed 2018 Apr 2]. Available from: https://beallslist.weebly.com/. 4. Anderson R. Cabell’s new predatory journal blacklist: a review. [accessed 2018 Apr 2]. Available from: https://scholarlykitchen.sspnet. org/2017/07/25/cabells-new-predatory-journal-blacklist-review/. 5. Cabell Scholarly Analytics’ Black List. [accessed 2018 Apr 2]. Available from: https://www2.cabells.com/about-blacklist. 6. Mazières D, Kohler E. Get me off your fucking mailing list. [accessed 2018 Apr 2]. Available from: http://www.scs.stanford.edu/~dm/home/ papers/remove.pdf. 7. Stribling J, Krohn M, Aguayo D. SCIgen An automatic CS paper generator. [accessed 2018 Apr 2]. Available from: https://pdos.csail.mit. edu/archive/scigen/.