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Immunodeficiency Type 31C



  • In the present study we show that STAT1 Arg274Trp mutations in the coiled-coil (CC) domain is the genetic cause of AD-CMC in three families of patients.[ncbi.nlm.nih.gov]
  • […] syndrome (Job syndrome) present increased IgE decreased IFN-gamma cause of chronic mucocutaneous candidiasis T cell dysfunction (many causes) how does chronic mucocutaneous candidiasis present non-invasive Candida albicans infections of skin and mucous[quizlet.com]
  • Autoantibodies Anti-interferon antibodies are commonly present, and interferon-ω-reactive antibodies are present in up to 100% [6].[diapedia.org]
  • Common variable immunodeficiency ( CVID ) Definition : primary immunodeficiency with low serum levels of all immunoglobulin, despite phenotypically normal B cells Epidemiology : Sex : Onset : present later than other B cell defects (usually 20–35 years[amboss.com]
Increased Susceptibility to Infections
  • We also assessed the immune abnormalities underlying the increased susceptibility to infections in these patients.[journals.plos.org]
  • Immunocompromised State in which the immune system is not functioning properly, increasing susceptibility to infection. Immunodeficiency A state in which the immune system's ability to fight infectious disease is compromised or entirely absent.[embomolmed.embopress.org]
  • News Tips all Jenny Colgan The Bookshop on the Shore English Paperback / Softback Fr. 22.90 Will be released 31.05.2019 Chris Carter Hunting Evil English 10.05.2019 Paperback / Softback Fr. 22.90 2-3 days Oliver Sacks Everything in Its Place English 31.05.2019[cede.ch]
Weight Loss
  • One year later, she developed ascites,weight loss and vomiting. Peritoneal tuberculosis wasdiagnosed and RIP therapy was introduced. She was treatedfor 1 year and the symptoms remitted.[docslide.us]


Liver Biopsy
  • Liver biopsy revealed CD68-positive cell infiltration and IL-18 expression in the sinusoidal regions.[ncbi.nlm.nih.gov]


  • TREATMENT: The patient was treated with intermittent pulses of itraconazole for the candidiasis and doxycycline initially before being substituted with isotretinoin 6 months later for the rosacea.[ncbi.nlm.nih.gov]
  • No targeted treatment other than lifelong antifungal therapy exists for AD-CMC and the discovery of the genetic defect and functional immunological defects make it now possible to explore new treatment strategies, which is the aim of this project.[erare.eu]
  • : no specific treatment or prophylaxis is indicated.[amboss.com]


  • The prognosis reflects the clinical phenotype and is equally variable, but early diagnosis and active management may have a major influence on the outcome.[diapedia.org]
  • The prognosis in primary immunodeficiency disorders is variable and depends on the specific disorder. Congenital B-cell immunodeficiencies B-cell defects ( humoral immunity deficiencies ) account for 50–60% of all primary immunodeficiencies.[amboss.com]
  • In isolated CMC, the prognosis is good; however, the significant morbidity is related to chronic and persistent skin, nail, and mucous membrane candidal infections.[emedicine.medscape.com]


  • Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest[amboss.com]
  • Patients are considered to have CMC disease when CMC is the hallmark feature without other prominent clinical signs or genetic etiologies such as severe combined immunodeficiency ( SCID ) and combined immunodeficiency ( CID ), where CMC is a component[invitae.com]
  • Management includes also treatment of associated endocrine and autoimmune abnormalities and other infections of viral and bacterial etiology..[mif-ua.com]


  • Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest[amboss.com]
  • Different aspects of this emerging field are covered, including epidemiology of fungal diseases, innate and adaptive antifungal immunity, and the role of immunogenetics in defining susceptibility to fungal diseases in primary (CMC, CGD, etc.) immunodeficiencies[books.google.com]
  • Gene sequencing identified mutations in signal transducer and activator of transcription 1 ( STAT1 ), leading to defective immune responses in type 1 and type 17 helper T cells. [3, 4, 5] Epidemiology Race No racial predilection is reported for chronic[emedicine.medscape.com]
  • Science 264 : 1415 ‐ 1421 Das I , Nightingale P , Patel M , Jumaa P ( 2011 ) Epidemiology, clinical characteristics, and outcome of candidemia: experience in a tertiary referral center in the UK .[embomolmed.embopress.org]
Sex distribution
Age distribution


  • Meningococcal vaccine Prophylactic antibiotics C3 deficiency Definition : deficiency of the complement factor C3 and its cleaved fragments (e.g., C3b) Etiology : primary or secondary due to impairment in the regulatory proteins factor I or factor H Pathophysiology[amboss.com]
  • Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81: 379–380 PubMed Google Scholar Zhu JF, Kaminski MJ, Pulitzer DR et al. (1996) Psoriasis: pathophysiology and oral manifestations.[springerlink.com]
  • Pathophysiology C albicans is an opportunistic yeast that is part of the normal flora of the gastrointestinal tract, skin, and mucous membranes. The fungus can exist in the yeast, the mycelial (pseudohyphal), or the chlamydospore phase.[emedicine.medscape.com]


  • Elsevier Health Sciences, ١٢‏/٠٣‏/٢٠١٦ - 329 من الصفحات There have been major advances in new therapies, diagnostic tools, and strategies for treatment and prevention of fungal infections.[books.google.com]
  • Nat Immunol 11: 457–460 CrossRef Google Scholar Gallin JI, Alling DW, Malech HL et al. (2003) Itraconazole to prevent fungal infections in chronic granulomatous disease.[doi.org]
  • To prevent transfusion reactions, IgA deficient patients must be given washed blood products without IgA or obtain blood from an IgA -deficient donor.[amboss.com]
  • To prevent recurrences and to target the primary immunodeficiency in these patients, immunostimulatory drugs such as cimetidine, levamisole, zinc, and Vitamin C have been tried.[ijpd.in]
  • In order to prevent a recurrence of chronic mucocutaneous candidiasis receives courses of fluconazol, ketoconazol, itraconazol with unsustainable effect, resistance developed rapidly, the constant need to change drugs.[mif-ua.com]

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