INTRODUCTION: Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease, and part of the cluster histiocytosis-lymphadenopathy plus syndrome (H syndrome), which is associated with mutations in the SLC29A3 gene. Patients with PHID show clinical features of H syndrome but also have insulin-dependent diabetes mellitus. The PHID has previously been described as predominantly in absence of pancreatic autoantibodies. Case Series Presentation: Through an open call in two international diabetes registers, clinical and genetic characteristics of 7 PHID patients in 6 treatment centres were collected after informed consent. All of them had consanguinity in their families, and their origins were located in North-African and Middle Eastern regions. Four out of 7 patients had at least one positive pancreatic autoantibody. DISCUSSION AND CONCLUSION: Our case series reveals that PHID exhibits a wide range of clinical symptoms and signs. When consanguinity is present in a patient with newly diagnosed diabetes, and/or if other atypical symptoms such as dysmorphic features, skin lesions, haematological abnormalities, and developmental delay are present, threshold for genetic analysis should be low. Moreover, the presence of autoantibodies should not withhold genetic testing as our case series contradicts the previous observation of predominant autoantibody absence in PHID.

• Klíčová slova
• Autoantibodies, Diabetes, H syndrome, PHID syndrome, SLC29A3,
• MeSH
• autoprotilátky krev   MeSH
• diabetes mellitus 1. typu * genetika   patologie   komplikace   MeSH
• dítě MeSH
• hypertrichóza * genetika   patologie   komplikace   MeSH
• lidé MeSH
• mladiství MeSH
• mutace MeSH
• pokrevní příbuzenství MeSH
• předškolní dítě MeSH
• proteiny přenášející nukleosidy * genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• autoprotilátky MeSH
• proteiny přenášející nukleosidy * MeSH
• SLC29A3 protein, human MeSH Prohlížeč

The global burden of disease due to Streptococcus pneumoniae remains high. The licensed 7-valent pneumococcal conjugate vaccine (7vCRM, Prevenar/Prevnar) has successfully reduced invasive disease in the USA, but serotype coverage is incomplete and some evidence suggests that serotype replacement has occurred. Recently, a new 10-valent pneumococcal nontypeable Haemophilus influenzae (NTHi) protein D (PD) conjugate vaccine (PHiD-CV, Synflorix) has been licensed in more than 40 countries, including Europe, for the prevention of invasive disease and acute otitis media (AOM) due to pneumococcus in infants and children. PHiD-CV is immunogenic in infants when administered as a three-dose primary vaccination in a range of schedules and has a safety profile comparable to that of 7vCRM. Additional serotypes in PHiD-CV (1, 5 and 7F) increase overall serotype coverage and improve coverage in specific age groups and against specific disease syndromes. The use of the PD carrier, which provided protection against AOM caused by NTHi in a large efficacy trial testing a prototype of the final vaccine formulation, suggests that PHiD-CV will also provide some protection against AOM due to NTHi.

• MeSH
• Haemophilus influenzae imunologie   MeSH
• hemofilové vakcíny škodlivé účinky   imunologie   MeSH
• kojenec MeSH
• kombinované vakcíny škodlivé účinky   imunologie   MeSH
• lidé MeSH
• pneumokokové vakcíny škodlivé účinky   imunologie   MeSH
• předškolní dítě MeSH
• sekundární imunizace metody   MeSH
• Streptococcus pneumoniae imunologie   MeSH
• vakcinace metody   MeSH
• vakcíny konjugované škodlivé účinky   imunologie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• hemofilové vakcíny MeSH
• kombinované vakcíny MeSH
• pneumokokové vakcíny MeSH
• vakcíny konjugované MeSH