PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

BACKGROUND AND AIM: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. MATERIAL AND METHODS: Herein, we present the clinical and immunological characteristics of 20 OCA patients who referred to the Department of Pediatric Immunology, Erciyes University Medical Faculty in Kayseri, Turkey between 2004 and 2014. RESULTS: Of the 20 OCA patients, 7 fulfilled diagnostic criteria for HLH, 9 showed defective functions of CD8 T cells and natural killer cells, and 8 received a definitive molecular diagnosis. Among the patients, we also report a patient diagnosed with two different genetic defects, in TYR and JAK3 genes, causing, respectively, OCA and ID. CONCLUSION: Our results illustrate the variability of clinical presentations and disease severity in OCA-ID patients, with consequent challenges in diagnosing and treating these patients.

Exhaled breath condensate annexin A5 levels in exercise-induced bronchoconstriction in asthma: A preliminary study.

BACKGROUND AND OBJECTIVE: The pathogenesis of exercise-induced bronchoconstriction (EIB) in asthma is incompletely understood. The role of exhaled breath condensate (EBC) annexin A5, which is an anti-inflammatory mediator, has not been investigated. The purpose of this study is to evaluate EBC annexin A5 levels in EIB in asthmatic children. METHODS: Two groups of children were enrolled in this study: asthmatic children with positive (n=11) and negative (n=7) responses to exercise. The levels of pre- and post-exercise EBC annexin A5 were determined with using enzyme-linked immunosorbent assay (ELISA). RESULTS: We observed significant higher pre-exercise EBC annexin A5 levels in the challenge test negative children than in the challenge test positive children (p<0.05). No significant difference was observed in the post-exercise EBC annexin A5 levels between the groups (p>0.05). Also, no significant difference was observed between pre- and post-exercise EBC annexin A5 levels within each group (p>0.05). There was an inverse correlation between annexin A5 levels and a reduction in forced expiratory volume at one second percent (FEV1%) (p=0.009, r=-0.598). CONCLUSIONS: Our preliminary study showed that EBC annexin A5 may have a possible preventive role in EIB in asthma. Annexin A5 and related compounds may provide novel therapeutic approaches to the treatment of EIB in asthma.

Prurigo simplex subacuta or prurigo simplex acuta?

Prurigo is a condition of nodular cutaneous lesions that itch intensely. Prurigo lesions are divided into acute, subacute and chronic forms that itch intensely. Subacute prurigo (SP) clinically presents as excoriated papules mostly in a symmetrical distribution on the extensor surfaces of the extremities, neck, lower trunk, and buttocks. It tends to occur in middle-aged patients, especially in women. Herein, we described prurigo simplex subacuta in a 4-year-old boy. It was histopathologically documented.

A selective IgA deficiency in a boy who presented recurrent parotitis.

Recurrent parotitis is a non-obstructive, non-suppurative inflammatory disease which is characterized by unilateral or bilateral parotid gland swelling attacks. It is also known as juvenile recurrent parotitis. Although the etiology is unknown, congenital malformations of the ductus, genetic predisposition, infections, allergies, autoimmune diseases, and some immune deficiencies are blamed. Here, we present a case report of recurrent parotitis with selective immunoglobulin A deficiency in a six-year-old boy. The patient was presented to us with a new episode of swelling of left parotid region. In the last 2 years, the patient suffered from recurrent parotitis which lasted for approximately 5 days in ten individual episodes.

Congenital IL-12R1ß receptor deficiency and thrombophilia in a girl homozygous for an IL12RB1 mutation and compound heterozygous for MTFHR mutations: A case report and literature review.

Interleukin-12 (IL-12) plays an important role in the production of interferon gamma from T cells and natural killer cells and is essential for protection against intra-macrophagic pathogens such as Mycobacterium and Salmonella. Here, we describe a 16-year-old girl with homozygous mutation in exon 12 of the IL12RB1 gene, which causes complete IL-12Rß1 deficiency in association with heterozygous mutation (C677T and A1298C) in the methylenetetrahydrofolate reductase gene. She presented with disseminated Mycobacterium tuberculosis complex infection, retroperitoneal fungal abscess and also thrombosis in the superior mesenteric-portal vein junction. This is the first case report of a primary immunodeficiency associated with a genetically determined venous thrombosis.

Desensitization of darbepoetin-α: a case report.

Human recombinant erythropoietins (EPO) and darbepoetins are widely used for anemias associated with chronic kidney disease.  Allergic reactions to erythropoetins and darbepoetins have only occasionally been reported. These skin reactions include pruritus, wheals at the injection site, orofacial anaphylaxis and anjioedema. In this article, we report an 11 year-old female who experienced generalized   erithematous skin eruption and desquamation after both erythropoietin and darbepoetin treatments.  We successfully used darbepoetin with the support of premedication and desensitization.