Clinical Manifestations in Humans of Combined C7 and C4 Deficiency Associated with Low Levels of C2, C8, and C9

Background: X-linked severe combined immunodeficiency (SCID) is caused by mutations in the IL2RG gene and classically presents with absent T cells and natural killer (NK) cells. Mutational analysis has contributed to the understanding of this gene. Methods: The primary immunodeficiency (PID) registry was reviewed for patients with SCID with novel IL2RG mutations. The clinical phenotype was assessed using a retrospective chart review. Results: We describe 3 novel mutations in the IL2RG. The first was a guanine to adenine substitution at position 215 (c.215 G > A) in exon 2 leading to a cysteine to tyrosine substitution at position 72 (p.Cys72Tyr), with a typical T− B+ NK− phenotype. The second was a deletion of thymine at position 618 and adenine at position 619 (c.618_619TA) in exon 5, leading to a frameshift at the 206 amino acid (p.His206fs). The phenotype was characterized by a classic SCID presentation and immunophenotyping revealed a low number of absolute lymphocytes with mostly B cells, low levels of immunoglobulins, as well as very low NK cells. Finally, the third mutation was a guanine to cytosine substitution at position 341 (c.341 G > C) in exon 3 leading to a glycine to alanine substitution at position 114 (p.Gly114Ala), presenting with a T+ B+ NK+ phenotype. The presence of T and NK cells in IL2RG are discussed in the context of other mutations allowing for T and NK cells in IL2RG mutations, as well as in the setting of maternal engraftment. Conclusion: To the best of our knowledge we describe 3 novel mutations in the IL2RG gene and the associated phenotypes. These mutations illustrate that these patients can have atypical immunological evaluations. Statement of novelty: To the best of our knowledge, this paper describes 3 novel mutations in the IL2RG gene.

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Clinical Presentation and Magnetic Resonance Findings in Sellar Tuberculomas

Case Reports in Medicine ◽

10.1155/2014/961913 ◽

2014 ◽

Vol 2014 ◽

pp. 1-9 ◽

Cited By ~ 5

Author(s):

Dulce Bonifacio-Delgadillo ◽

Yolanda Aburto-Murrieta ◽

Citlaltepetl Salinas-Lara ◽

Julio Sotelo ◽

Ivonne Montes-Mojarro ◽

...

Keyword(s):

Clinical Presentation ◽

Clinical Manifestations ◽

Tuberculous Infection ◽

Enhancement Pattern ◽

Signal Suppression ◽

Chronic Inflammatory Reaction ◽

Low Levels ◽

Sellar Lesion ◽

Age Range ◽

Visual Disturbances

Background and Importance. Sellar tuberculomas are extremely rare lesions with nonspecific clinical manifestations. The tuberculous infection of the pituitary gland and sellar region is characterized by the presence of an acute or chronic inflammatory reaction and may occur in the absence of systemic tuberculosis. The diagnosis is difficult prior to the surgery. An adequate diagnostic and antituberculous drugs usually result in a good outcome.Clinical Presentation. We report four cases of sellar tuberculoma, 3/1 female/male, age range: 50–57 years. All patients had visual disturbances and low levels of cortisol.Conclusion. The clinical diagnosis of sellar tuberculoma is a challenge and should be suspected when a sellar lesion shows abnormal enhancement pattern and stalk involvement, and absence of signal suppression in FLAIR.

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Circulating neurotransmitter levels in irritable bowel syndrome: correlation of laboratory tests and clinical findings

South Russian Journal of Therapeutic Practice ◽

10.21886/2712-8156-2020-1-2-72-77 ◽

2020 ◽

Vol 1 (2) ◽

pp. 72-77

Author(s):

R. V. Vidiker ◽

N. V. Trubina ◽

A. R. Babaeva

Keyword(s):

Ulcerative Colitis ◽

Irritable Bowel Syndrome ◽

Healthy Subjects ◽

Clinical Manifestations ◽

Enzyme Linked Immunosorbent Assay ◽

Control Group ◽

Blood Levels ◽

Blood Concentrations ◽

Low Levels ◽

Irritable Bowel

Objective: to estimate blood levels of serotonin and melatonin neurotransmitters in patients with irritable bowel syndrome and to evaluate the role of neurohumoral imbalance in the development and clinical manifestations of irritable bowel syndrome phenotypes.Materials and methods: the study included 60 patients (range, 18 – 45 years) diagnosed with irritable bowel syndrome according to the Roman IV criteria for irritable bowel syndrome (2016). 20 patients with a confirmed diagnosis of ulcerative colitis (UC) were assigned to a comparison group. The control group was composed of 45 apparently healthy subjects. All subjects were assigned to subgroups based on the prominent clinical presentation: irritable bowel syndrome with constipation (IBS-C), irritable bowel syndrome with diarrhea (IBS-D) and mixed irritable bowel syndrome (IBS-M). In addition to all the necessary procedures (clinical, laboratory and instrumental), blood concentrations of endogenous serotonin and melatonin were measured using enzyme-linked immunosorbent assay (ELISA).Results: the concentrations of endogenous serotonin and melatonin were significantly lower in patients with irritable bowel syndrome as compared with those having ulcerative colitis or healthy individuals. The detection rates of lowering serotonin levels were 53.3 % and 65 % — for melatonin. Low levels of melatonin were detected both in IBS-D and IBS-C patients. 69.57 % of IBS-D patients had elevated levels of serotonin as compared with the reference values for healthy subjects. We found a strong correlation between the severity of bloating and abdominal pain on the one hand, and low levels of endogenous serotonin and melatonin, on the other hand.Conclusion: our findings suggest that serotonin and melatonin neurotransmitters play a significant role in the pathophysiology and clinical manifestations of estimate blood levels of serotonin and melatonin neurotransmitters in patients with irritable bowel syndrome.

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Hematologic Observations of the Course of Erythroblastosis Fetalis

Blood ◽

10.1182/blood.v10.8.802.802 ◽

1955 ◽

Vol 10 (8) ◽

pp. 802-811 ◽

Cited By ~ 10

Author(s):

JANE F. DESFORGES ◽

LIAM C. O’CONNELL

Keyword(s):

Osmotic Stress ◽

Replacement Therapy ◽

Peripheral Blood ◽

Clinical Manifestations ◽

Red Cells ◽

Average Level ◽

Normal Range ◽

Platelet Counts ◽

Low Levels ◽

Marrow Activity

Abstract Serial studies revealed characteristic changes in the peripheral blood of infants with erythroblastosis fetalis. In the presence of elevated nucleated red cells and reticulocytosis, replacement transfusion brought about a momentary decline to normal levels followed by a second rise during the succeeding three days before the values returned to low levels. Platelet counts diminished within a day after replacement and only gradually rose toward normal after approximately three days. Such a picture was not seen in the mildly affected babies who did not receive replacement therapy, in whom the platelet values varied. Within the first three months in both groups anemia developed in the presence of little evidence of compensating marrow activity. After a decline of the hemoglobin to an average level of 7.6 Gm. per cent, erythropoiesis became adequate for return to normal levels. This hypoplastic defect could not be correlated with any other parameter of the disease. Abnormalities were noted in the osmotic and mechanical fragility of the red cells in this disease. The major population of cells was found to be more susceptible to osmotic stress while the limits of hemolysis were within the normal range. The osmotic curves of the blood of those patients who were not transfused returned to normal within 4 weeks. Mechanical fragility of the red cells was increased in a significant number, and this abnormality was observed until the time when minimal hemoglobin values were reached. There was no correlation of these variations in fragility with other laboratory or clinical manifestations of the disease.

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Localized intravascular coagulation in venous malformations: A system review

Phlebology The Journal of Venous Disease ◽

10.1177/0268355520946211 ◽

2020 ◽

pp. 026835552094621

Author(s):

Yu-Yu Han ◽

Li-Ming Sun ◽

Si-Ming Yuan

Keyword(s):

Antithrombin Iii ◽

Degradation Products ◽

Vascular Malformations ◽

Venous Malformation ◽

Clinical Manifestations ◽

Venous Malformations ◽

Fibrin Degradation Products ◽

Intravascular Coagulopathy ◽

System Review ◽

Low Levels

Venous malformation is one of the slow-flow vascular malformations. Dysfunction of coagulation often occurs in most venous malformations, especially the diffuse and multifocal lesions, referred to as localized intravascular coagulopathy. It is characterized by the elevation of D-dimers and fibrin degradation products, low levels of fibrinogen, FV, FVIII, FXIII, and antithrombin III, and sometimes minor-to-moderate thrombocytopenia. Here we reviewed the clinical manifestations, pathogenesis, diagnosis, and treatment of localized intravascular coagulopathy in venous malformations.

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Lyssaviruses and the Fatal Encephalitic Disease Rabies

Frontiers in Immunology ◽

10.3389/fimmu.2021.786953 ◽

2021 ◽

Vol 12 ◽

Author(s):

Terence Peter Scott ◽

Louis Hendrik Nel

Keyword(s):

Nervous System ◽

Clinical Manifestations ◽

Domestic Dog ◽

Human Rabies ◽

Survival Times ◽

Disease Symptoms ◽

Innate Immune Signaling ◽

Cellular Apoptosis ◽

The Central Nervous System ◽

Low Levels

Lyssaviruses cause the disease rabies, which is a fatal encephalitic disease resulting in approximately 59,000 human deaths annually. The prototype species, rabies lyssavirus, is the most prevalent of all lyssaviruses and poses the greatest public health threat. In Africa, six confirmed and one putative species of lyssavirus have been identified. Rabies lyssavirus remains endemic throughout mainland Africa, where the domestic dog is the primary reservoir – resulting in the highest per capita death rate from rabies globally. Rabies is typically transmitted through the injection of virus-laden saliva through a bite or scratch from an infected animal. Due to the inhibition of specific immune responses by multifunctional viral proteins, the virus usually replicates at low levels in the muscle tissue and subsequently enters the peripheral nervous system at the neuromuscular junction. Pathogenic rabies lyssavirus strains inhibit innate immune signaling and induce cellular apoptosis as the virus progresses to the central nervous system and brain using viral protein facilitated retrograde axonal transport. Rabies manifests in two different forms - the encephalitic and the paralytic form - with differing clinical manifestations and survival times. Disease symptoms are thought to be due mitochondrial dysfunction, rather than neuronal apoptosis. While much is known about rabies, there remain many gaps in knowledge about the neuropathology of the disease. It should be emphasized however, that rabies is vaccine preventable and dog-mediated human rabies has been eliminated in various countries. The global elimination of dog-mediated human rabies in the foreseeable future is therefore an entirely feasible goal.

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Frequency of Toxocariasis among Patients Clinically Suspected to Have Visceral Toxocariasis: A Retrospective Descriptive Study in Sri Lanka

Journal of Parasitology Research ◽

10.1155/2017/4368659 ◽

2017 ◽

Vol 2017 ◽

pp. 1-6 ◽

Cited By ~ 3

Author(s):

Devika Iddawela ◽

Kiruthiha Ehambaram ◽

Dhilma Atapattu ◽

Kalyani Pethiyagoda ◽

Lakmalee Bandara

Keyword(s):

Clinical Symptoms ◽

Clinical Manifestations ◽

Larva Migrans ◽

Serum Samples ◽

Antigen Elisa ◽

Clinical Syndromes ◽

Younger Age ◽

Antibody Positivity ◽

Low Levels ◽

High Level

Introduction. Human toxocariasis is caused by several species of the nematode Toxocara. Two common clinical syndromes are ocular and visceral larva migrans. Objectives. To determine the Toxocara antibody positivity in clinically suspected VLM patients and to describe demographic factors and clinical manifestations of seropositive patients. Methods. 522 clinically suspected patients were studied between 1993 and 2014. Relevant data was gathered from referral letters. Serum samples were subjected to Toxocara antigen ELISA. Results. Overall, seropositivity was 50.2% (262), of which 109 (40.8%) were positive at high level of Toxocara antibody carriage and 153 (58.4%) were positive at low levels. The seropositives ranged from 3 months to 70 years (mean = 7.8). Younger age group had higher levels of seropositivity and it was statistically significant. Majority of children under 5 years were seropositive (47.7%, n=125). Seropositivity was common in males (55.3%, n=145). Clinical manifestations of seropositives include lymphadenopathy (24.1%) skin rash (22.5%), dyspnoea (21.7%), fever (21%), hepatosplenomegaly (9.2%), and abdominal pain (3.8%). 197 (75.2%) seropositive cases had eosinophilia. These symptoms were not statistically significant. Conclusions. This study confirms toxocariasis as an important cause of childhood ill health identifying common clinical symptoms recommending preventive measures to limit transmission.

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Morphologic alteration in the muscles of patients with hypokalemic periodic paralysis or myopathy

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100158650 ◽

1990 ◽

Vol 48 (3) ◽

pp. 222-223

Author(s):

T. Shimizu ◽

Y. Muranaka ◽

I. Ohta ◽

N. Honda

Keyword(s):

Clinical Manifestations ◽

Quadriceps Muscle ◽

Honeycomb Structure ◽

Periodic Paralysis ◽

Ultrastructural Changes ◽

Hypokalemic Periodic Paralysis ◽

Electron Microscopic ◽

Tubular Aggregates ◽

Hypokalemic Myopathy ◽

Transmission Electron

There have been many reports on ultrastructural alterations in muscles of hypokalemic periodic paralysis (hpp) and hypokalemic myopathy(hm). It is stressed in those reports that tubular structures such as tubular aggregates are usually to be found in hpp as a characteristic feature, but not in hm. We analyzed the histological differences between hpp and hm, comparing their clinical manifestations and morphologic changes in muscles. Materials analyzed were biopsied muscles from 18 patients which showed muscular symptoms due to hypokalemia. The muscle specimens were obtained by means of biopsy from quadriceps muscle and fixed with 2% glutaraldehyde (pH 7.4) and analyzed by ordinary method and modified Golgimethod. The ultrathin section were examined in JEOL 200CX transmission electron microscopy.Electron microscopic examinations disclosed dilated t-system and terminal cistern of sarcoplasmic reticulum (SR)(Fig 1), and an unique structure like “sixad” was occasionally observed in some specimens (Fig 2). Tubular aggregates (Fig 3) and honeycomb structure (Fig 4) were also common characteristic structures in all cases. These ultrastructural changes were common in both the hypokalemic periodic paralysis and the hypokalemic myopathy, regardless of the time of biopsy or the duration of hypokalemia suffered.

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