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Article
Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other
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Article
Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene
MHC class II deficiency patients are mutated for transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. Four complementation groups (A–D) are defined and ...
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Article
Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement
Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations. A...
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Article
Development of systemic lupus erythematosus in a patient with selective complete C1q deficiency
A 7-year-old male with recurrent erythematous and desquamated skin lesions and respiratory infections was diagnosed as selective complete C1q deficiency following detailed studies of the complement system. Hi...
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Article
Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families
Three families are described with complement component deficiencies. In one family, five children had C5 deficiency; in a second family, two children had C8 deficiency and one child in a third family had C3 de...
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Chapter
Immune Dysfunctions in Ataxia-Telangiectasia
Ataxia-telangiectasia (AT) is an autosomal recessive immunodeficiency, characterized by progressive ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infections, absent or reduced serum IgA, low s...
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Article
44 THYMIC HUMORAL FACTOR (THF) THERAPY IN A PATIENT WITH DI GEORGE SYNDROME
A total of 55 doses of THF (1.5 mg/kg/day) was given to a 5.5 month old male with Di George Syndrome.Skin tests (for PHA and Candida) were negative,E rosettes were low (24%),blastogenic transformation response...
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Article
REDUCED CELLULAR IMMUNITY WITH NORMAL IMMUNOGLBULINS AND A DEFECTIVE ANTIBODY PRODUCTION IN TWINS
The primary immunodeficiency diseases represent themselves with a broad spectrum but sometimes reaching a diagnosis is difficult because of mild symptoms and normal tests. An example of this was a set of twins...
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Article
MEMREANE MARKERS IN ALL: A STUDY OFF 21 CASES
Twenty one cases of ALL (13 males, 8 females) were analysed for the presence of T and B membrane markers in blood or bone marrow prior to treatment. Their ages were between 2 and 16 years. E rosettes with SREC...