Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Immunodeficiency functionally limited to the B-cell system together with mild hypothyroidism and severe growth hormone deficiency was found in a 6 1/2-month-old female infant with recurrent infections and growth retardation. A lymph node biopsy and post mortem examination of the lymphoid organs surprisingly revealed severe deficiency of both thymus-dependent and bursa-equivalent systems. The unusual combination of immune and endocrine deficiencies posed a difficult diagnostic problem. The hypothesis of an early-onset Louis-Bar syndrome was suggested and apparently corroborated by the autopsy findings of ovarian dysgenesis and cerebellar degeneration. The dissociation between functional and morphological findings as regards the immunodeficiency, and the possible links between immune and endocrine derangements are discussed.
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PMID:Unusual combination of immune and endocrine deficiencies. A possible case of early-onset Louis-Bar syndrome. 108 26

A 8 year old boy with short stature, low height velocity, mental retardation, cutaneous abnormalities, common variable immunodeficiency and increased chromosomal instability is described. In this patient growth hormone deficiency could be demonstrated by several stimulation tests. Growth hormone treatment increased growth rate from 4 cm/year before therapy to 7.8 cm in the first and 7.1 cm in the second year of treatment. Under therapy no effect on the immunological reactivity could be observed.
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PMID:[Growth hormone therapy in STH deficiency with immunologic deficiency and chromosome fragility]. 161 48

A previously described patient with X-linked agammaglobulinemia and growth hormone deficiency developed an echovirus-associated meningoencephalitis and dermatomyositis-like syndrome while being treated with intramuscular gamma globulin and human growth hormone. Initiation of high-dose intravenous gamma globulin resulted in resolution of the clinical symptoms and the patient has remained asymptomatic over the past 55 months. Lymphocyte phenotype analysis at the time of presentation with echovirus infection revealed an increase in CD2+, CD16+, HNK-1+ lymphocytes, a decrease in CD4+ T cells as well as absence of B cells. This elevation in the LGL/NK phenotype resolved with clinical improvement. In addition, there was evidence of lymphocyte activation following the development of echovirus infection (increase in HLA-DR expression and elevated serum IL-2 receptor levels) which resolved with clinical improvement. A muscle biopsy obtained during the period of the dermatomyositis-like syndrome demonstrated a CD8+ lymphocytic infiltrate very similar to the observations in classical dermatomyositis. Taken together, these findings suggest that growth hormone therapy in this patient failed to alter the humoral immunodeficiency. In addition, serum IL-2 receptor levels and lymphocyte phenotyping may be useful adjuncts for monitoring echovirus disease in immunodeficient patients.
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PMID:Lymphocyte analysis in a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency after development of echovirus dermatomyositis and meningoencephalitis. 275 12

The growth of 22 boys with hemophilia, infection with human immunodeficiency virus (HIV), and lymphadenopathy, but not overt acquired immunodeficiency syndrome (AIDS) was evaluated. Three patients were found to have significant growth failure for 3-4 years with the onset after HIV infection. Extensive endocrine evaluation revealed that two of the three had neurodysregulation of growth hormone release with hyposomatomedinemia. None had classical growth hormone deficiency, thyroid deficiency, or evidence of malnutrition/malabsorption or other systemic illness. It appears that growth failure is not rare in boys with hemophilia and HIV infection and that this might be due to a direct effect on the physiologic secretion of growth hormone.
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PMID:Growth failure in boys with hemophilia and HIV infection. 278 55

We undertook clinical, immunologic, and endocrinologic studies of a family in which two brothers and their two maternal uncles had a similar disorder characterized by hypogammaglobulinemia and isolated growth hormone deficiency. Recurrent sinopulmonary infections were a prominent feature in two patients. All patients had short stature and retarded bone age during childhood, and the adults had delayed onset of puberty. The immunodeficiency was characterized by absent specific antibody production in vivo and impaired immunoglobulin production in vitro. Three of the four patients lacked circulating B lymphocytes, even though tonsils were present in those patients. All patients had deficient growth hormone responses to insulin and arginine or levodopa. These patients have an X-linked recessive disorder, but their immunodeficiency differs from the X-linked immune disorders in the World Health Organization classification; their X-linked pattern of growth hormone deficiency, without other endocrine abnormality, is also unique.
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PMID:X-linked hypogammaglobulinemia and isolated growth hormone deficiency. 718 77

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease associated with a block in differentiation from pre-B to B cells. The XLA gene encodes a 659 amino acids cytoplasmic protein tyrosine kinase named btk (Bruton's tyrosine kinase). The few btk gene alterations so far reported in XLA patients are heterogenous and distributed in all domains of the btk protein. They appear to be responsible for a range of B cell immunodeficiency disorders of variable severity. Rare families in which XLA is inherited together with isolated growth hormone deficiency (IGHD) have been reported. Genetic analysis has shown that this disease association maps to the same region of the X chromosome as XLA, but whether the two phenotypes are caused by a common or different developmental or biochemical mechanism is unknown. We have analyzed the btk gene of a patient with XLA and IGHD. RT-PCR analysis of btk transcripts, sequencing data obtained from cDNA and genomic DNA and in vitro splicing assays showed that an intronic point mutation (1882 + 5G-->A) is responsible for skipping of an exon located in the tyrosine kinase domain. This exon-skipping event results in a frameshift leading to a premature stop codon 14 amino acids downstream, and in the loss of the last 61 residues of the carboxy-terminal end of the protein. Although we studied a sporadic case, the results suggest that an alteration of the btk gene might cause this unusual phenotype.
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PMID:An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. 801 27

A combination of humoral immunodeficiency and isolated growth hormone deficiency was observed in a girl with Mulibrey nanism. The humoral immunodeficiency consisted of subnormal concentration of serum IgG, in particular IgG2 and IgG4, and low concentration of serum IgM. Serum IgA and IgD were elevated, IgE was absent. Antibody response in vivo was very low or absent and opsonization in vitro was defective. Total B-cell number was low. In addition, the serum kappa/lambda light chain ratios within the immunoglobulin classes G, A, and M were abnormal. The defective antibody response may be linked to the abnormal kappa/lambda light chain ratios. Endocrine functions were normal except for isolated growth hormone deficiency. Therapy with human growth hormone resulted in increased growth velocity but did not improve humoral immune functions.
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PMID:Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. 833 20

Growth hormone deficiency associated with hypogammaglobulinemia has been reported only in a few publications. Our patient was a male with recurrent episodes of infections. Serum immunoglobulin (Ig) G was extremely low although IgM concentration was much greater than the normal limit. Growth hormone responses to insulin, 1-Dopa and growth hormone-releasing hormone were low. The mean growth hormone concentration during sleep was less than the normal limit. These results are consistent with hyper-IgM immunodeficiency associated with growth hormone deficiency. The mode of transmission appears to be autosomal dominant. This combination has not been reported previously.
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PMID:Immunodeficiency with increased immunoglobulin M associated with growth hormone insufficiency. 833 7

The first description of an association of isolated growth hormone deficiency (IGHD) and combined immunodeficiency is presented. The findings suggest that IGHD should be considered as a cause of short stature in children with combined immunodeficiency before attributing growth retardation to infection.
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PMID:Growth hormone deficiency and combined immunodeficiency. 848 Oct 46

Recent studies of the growth hormone insulinlike growth factor I (IGFI) axis suggest that these hormones are involved in several physiologic processes, in addition to growth. Thus, several lines of evidence indicate an increasingly important role for recombinant human growth hormone as a part of the modern therapeutic armamentarium. In addition to the treatment of children with growth hormone deficiency, administration of growth hormone appears to be of considerable benefit to girls with Turner syndrome, children with chronic renal failure, and adults with growth hormone deficiency or human immunodeficiency virus (HIV) wasting syndrome. Moreover, its therapeutic use is being investigated in other conditions, such as children with idiopathic short stature, the healthy elderly, and the critically ill. However, long-term surveillance among growth hormone recipients is needed to fully evaluate its risk-benefit profile.
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PMID:Recombinant human growth hormone: old and novel uses. 968 21


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