Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodeficiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in Thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting...

Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. The clinical phenotype includes growth retardation, immunodeficiency and strong predisposition to different types of malignancies. Treatment malignancies BS patients with radiotherapy or chemotherapy believed be associated increased toxicity, but laboratory data are lacking. We collected two Dutch solid t...

Disseminated mycobacterial infection after bacillus Calmette-Guerin (BCG) vaccination is a very rare disorder, occurring mostly in patients with immunologic deficiency. We report a case of disseminated BCG infection in a 16-month-old girl with severe combined immunodeficiency. Plain radiographs showed multiple osteolytic lesions in the femora, tibiae, humerus, and phalanges. Abdominal sonograph...

Both akinetic and hyperkinetic movement disorders may rarely be the presenting feature of human immunodeficiency virus (HIV) infection. The possible pathogenic basis is the involvement of subcortical structures by the HIV infection-related pathology. Opportunistic infections, or mass lesions complicating HIV infection. In addition dopaminergic dysfunction and medications may also play a role. W...

A Burkitt's-like B-cell lymphoma (BLL) has recently been shown to be associated with the acquired immunodeficiency syndrome (AIDS), which affects homosexual men. We report cytogenetic studies of two BLL tumors in homosexual men. Both tumors had chromosome translocations characteristic of Burkitt's lymphoma (BL), one the t(8;14) and the other the t(8;22). The pathway of lymphomagenesis in this d...

A 20-year-old man with WiskottAldrich syndrome (WAS) initially developed a mild visual disturbance that progressed to blindness, increasing neurological deficits, and death within 4 months. Wiskott-Aldrich syndrome is an X-linked immunodeficiency disorder characterized by thrombocytopenia, eczema, and susceptibility to infection. This case illustrates the difficulties in reaching the final diag...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator (AIRE) gene, leading to defects in T cell selection. The disease manifestations include both autoimmune tissue destruction and immunodeficiency, with specific susceptibility to chronic mucocutaneous candidiasis. Studies have demonstrated a wide repertoire of...

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder with no clinical or immunologic abnormalities in carrier famales. The defective gene has been localized to proximal Xp. Carrier females have nonrandom use of the X chromosome in granulocytes, lymphocytes, and monocytes. We have used the probe M27p. which detects both a variable number tandem repeat polymorphism and methylat...

Major histocompatibility complex (MHC) class II deficiency is a primary immunodeficiency disease characterized by abnormality of MHC class II molecules surface expression on peripheral blood lymphocytes and monocytes. Clinical manifestations include extreme susceptibility to viral, bacterial, and fungal infections but the immunodeficiency is not as severe as SCID (severe combined immunodeficien...

Objective: Primary immunodeficiency diseases (PID) are rare and heterogeneous congenital diseases leading to increased unusual susceptibility to developing infections and causingsome malignancies and autoimmune diseases. This study was conducted to evaluate the epidemiological characteristics of primary these diseases in patients attending the clinic of immunodeficiency diseases in Kerman.Subje...