| We report on a patient who presented at 5 years of age with a hemiparesis due to a middle cerebral artery infarction. An embolism had originated from a mycotic aneurysm located in the internal carotid artery. For several months prior to admission he had been suffering from therapeutically resistant candidiasis of the mouth and nails. family history revealed chronic mycotic infections of the skin, hair, nails and mouth in the father and paternal grandmother suggestive of chronic mucocutaneous candidiasis with autosomal dominant mode of inheritance. Clipping of the aneurysm, after 3 months of anti-mycotic treatment, followed by sustained treatment with itraconazole and fluconazole, led to a favourable outcome. CONCLUSION: Chronic mucocutaneous candidiasis can be associated with an intracranial aneurysm and complicated by cerebral infarction. ( info) |
| A 15-y-old male patient with chronic mucocutaneous candidiasis (CMCC) and new onset adrenal insufficiency developed pneumocystis carinii pneumonia (PCP). The literature on infectious complications of CMCC is reviewed and clinical and laboratory characteristics of the only previously described case of PCP in CMCC are compared with those of the patient reported here. ( info) |
3/73. Autoimmune hemolytic anemia in a patient with autosomal dominant chronic mucocutaneous candidiasis. Chronic mucocutaneous candidiasis is a heterogeneous immunodeficiency syndrome characterized by recurrent candidal infections of the skin, nails, and mucous membranes. The syndrome can be associated with autoimmune conditions, especially endocrine disorders. Typically, inheritance is autosomal recessive, and abnormal T-cell-mediated immunity is thought to be the underlying deficit. We describe a 27-year-old man with chronic mucocutaneous candidiasis inherited in an autosomal dominant fashion, in whom both lymphocyte blastogenesis and delayed-type skin reactivity to Candida antigens were normal. Notable features of the case include autoimmune hemolytic anemia, probable hypoparathyroidism, and hypogonadal hypogonadism. ( info) |
| An autopsy case of chronic mucocutaneous candidiasis (CMCC) is reported here, in which cerebral vasculitis developed in the final stage. A 32-year-old man who had suffered from superficial candidial infection since his childhood was diagnosed as having CMCC. During the past 7 years the patient had developed various associated disorders including insulin-dependent diabetes mellitus (IDDM), common variable immunodeficiency (CVID), candidial esophagitis, multiple digestive tract ulcers and pyothorax. In 1998, at the age of 32, he developed convulsions that were accompanied by impairment of consciousness, and which were temporarily treated with steroid pulsed-medication. Epileptic status associated with widespread cerebral infarctions occurred subsequently, however, and the patient died of sepsis 2 months later. At autopsy, multiple cerebral infarctions and arterial thrombosis were evident. These were histologically proven to be primary vasculitis which was confined solely to the brain, and this was verified by general pathological examination. Thus, some as yet unknown cerebrovascular factors might be involved in the onset of an autoimmune-related vasculitis in patients with a longstanding immunodeficiency state such as CMCC. ( info) |
5/73. growth hormone deficiency in autoimmune polyglandular disease type 1. This is a case report of 2 patients who were diagnosed to have autoimmune polyglandular disease type 1. Both developed mucocutaneous candidiasis, hypoparathyroidism, vitiligo, and adrenocortical insufficiency. Both were noticed to have subnormal linear growth velocity and delayed bone age. Both showed subnormal stimulated serum growth hormone values indicating growth hormone deficiency. The first case showed favorable response to growth hormone therapy. ( info) |
6/73. Autoimmune polyglandular syndrome (APS) type 1 and candida onychomycosis. A 21-year-old female presented at age 2 years with a chronic mucocutaneous candidiasis and at age 3 alopecia totalis. Later, chronic hypoparathyroidism and autoimmune adrenal insufficiency appeared. In addition, malabsorption syndrome and signs of pernicious anaemia occurred. The onychomycosis totally improved under systemic treatment with fluconazole (Diflucan), endocrine and organ failure with replacement therapy. The autoimmune polyglandular syndrome (APS 1) is a rare autosomal recessive inherited disease. Chronic mucocutaneous candidiasis (CMC) generally presents very early in life and is the most frequent of the three main diseases of APS type 1 (chronic hypoparathyroidism, autoimmune Addison's disease). It can be considered as a precocious marker of APS type 1. Consequently, all patients affected by isolated CMC, especially children, should be evaluated and carefully followed up by immunological, biochemical, and clinical tests to recognize signs and symptoms of imminent or ongoing endocrine glandular failure. ( info) |
7/73. Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations. We herein report on two Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1). The brother, who expressed a characteristic phenotype of APS-1, had developed severe mucocutaneous candidiasis in early infancy and thereafter developed hypoparathyroidism and Addison's disease, along with a severe deterioration of his immunologic function. In contrast, the 44-year-old sister, who showed a noncharacteristic phenotype of APS-1, developed insulin-dependent diabetes with high anti-glutamic acid decarboxylase antibody, mild nail candidiasis, and autoimmune hepatitis with intact immunoreactivity. She had three susceptible human leukocyte antigen (HLA) loci for type 1 autoimmune diabetes. The expression of T cell receptor (TCR)V beta 5.1 increased in both patients, while the brother showed a widely suppressed expression of many TCRV beta families. Both individuals possessed compound heterozygous novel autoimmune regulator (AIRE) gene mutations (L29P and IVS9-1G > C). The same AIRE gene mutations can thus be associated with characteristic and noncharacteristic phenotypes of APS-1, and HLA may possibly influence the phenotype of APS-1. ( info) |
8/73. Antigliadin antibodies associated with chronic mucocutaneous candidiasis. Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency disease clinically characterized by Candida infection of the skin, mucous membranes, or nails that is refractory to traditional treatment. We present a typical case of a 13-year-old boy with an onset of illness at 1 month of age in the form of oral thrush. At age 2-3 years the patient began to have external otitis caused by candida albicans and recurrent upper respiratory tract infections. Analytical studies detected iron deficiency and circulating antigliadin antibodies. Immunologic findings excluded other possible immunodeficiencies. Significant clinical improvement was produced by therapy with orally administered fluconazole. The significance of antigliadin antibodies is discussed. ( info) |
9/73. Primary immunodeficiency studies at University of alabama at Birmingham: continuing the search for genetic causes. Over the past two decades the genetic bases for virtually all the well-characterized primary immunodeficiency syndromes have been identified. The investigation of rare, poorly differentiated immunodeficiencies is being hampered by a preoccupation of funding agencies with hypothesis-driven proposals that apply poorly in the case of individual patients. Recent studies at our institution in collaboration with groups at NIH have resulted in the identification of two separate kindreds bearing unique mutations in molecules affecting immune function and a chromosomal linkage in a third family. Thus, a potential solution to the funding problem for studies in primary immunodeficiency could lie in the centralization of investigative expertise and support, perhaps within the walls of the National Institutes of health, as has been done with great success in europe. ( info) |
10/73. Immunodeficiency with recurrent panlymphocytopenia, impaired maturation of B lymphocytes, impaired interaction of T and B lymphocytes, and impaired integrity of epithelial tissue: a variant of idiopathic CD4 T lymphocytopenia? Idiopathic CD4 T lymphocytopenia (ICL) has been defined as a cause of immunodeficiency with a variable clinical course and an unknown etiology. Here we describe a now 18-year-old boy with ICL, chronic mucocutaneous candidiasis (CMC), recurrent abscesses, and relapsing aphthous and ulcerous lesions. In addition to ICL the patient frequently showed a panlymphocytopenia. An increased percentage of gamma delta T lymphocytes and IgD IgM B lymphocytes, and a decreased percentage of CD21 B lymphocytes, were observed. in vitro assays showed normal T-cell responses to candidin and T-cell mitogens, but impaired B-cell responses to pokeweed mitogen (PWM). B-cell maturation after stimulation with staphylococcus aureus Cowan I (SAC) and interleukin 2 (IL-2) was nearly normal. The clinical course of the patient improved substantially on administration of constant low-dose therapy with fluconazole. ( info) |