scholarly journals Suspected primary immune deficiency in a Donge de Bordeaux dog : short communication

2002 ◽  
Vol 73 (3) ◽  
Author(s):  
R.G. Lobetti
Keyword(s):  
Immune Deficiency ◽  
B Lymphocytes ◽  
Lymphoid Tissue ◽  
Short Communication ◽  
Clinical Signs ◽  
Primary Immune Deficiency ◽  
Cell Counts ◽  
Genetic Base ◽  
Bacterial Tracheitis ◽  
Differential Cell

A young Donge de Bordeaux dog was presented with chronic intermittent antibiotic responsive gastrointestinal and respiratory disease. Further evaluation showed bacterial lymphadenitis, bacterial tracheitis, normal white cell and differential cell counts, hypogammaglobulinaemia, and the absence of B-lymphocytes but the presence of T-lymphocytes in the lymphoid tissue stained with lymphocyte markers. As the dog came from a narrow genetic base, with related dogs showing similar clinical signs, possible B-cell congenital immune deficiency was suspected.

scholarly journals Large Granular Lymphocyte Infiltration in the Bone Marrow in Children and Young Adults May Suggest Primary Immune Deficiency

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 1024-1024
Author(s):  
Mervi H Taskinen ◽  
Satu Mustjoki ◽  
Kirsi Jahnukainen ◽  
Luca Trotta ◽  
Timo Siitonen ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
T Cell ◽  
Research Funding ◽  
Nk Cell ◽  
Young Patients ◽  
Large Granular Lymphocyte ◽  
Primary Immune Deficiency ◽  
T Cell Infiltration ◽  
Cell Counts ◽  
Severe Infections

Abstract Large granular lymphocyte (LGL) leukemia is a group of rare lymphoproliferative disorders which involve inappropriate clonal expansion of either cytotoxic T-lymphocytes (CTLs) or natural killer cells (NK). The usual age at onset is between 40 to 60 years. We here describe four very young patients showing LGL infiltration in the bone marrow (BM) and all diagnosed with primary immune deficiency. Patient 1 is a 13-year old male who presented with gingivostomatitis, but no severe infections, autoimmune disease or allergies. He had persistent leukopenia (1.9x109/L), neutropenia (<0.05x109/L), thrombocytopenia (60-80x109/L) and mild anemia. The BM showed myeloid maturation arrest and infiltration of LGL cells with NK cell phenotype (CD3-, CD2+, CD16+, CD56-/+, CD57-, CD4-, CD8-) at 50% of the BM cellularity. In peripheral blood (PB) T, B and NK cell counts were normal. However, low levels of monocytes (0.09x109/L), normal levels of monocytoid (2.7x106/L) and low levels of plasmacytoid (0.1x106/L) dendritic cells (DC) were detected. While germline whole exome sequencing (WES) did not identify mutations likely to cause the disease, targeted sequencing of GATA2 mRNA showed uniallelic GATA2 expression, confirming haploinsufficiency. Patient 2 is a 15-year old female who has neonatal diabetes, autoimmune desquamative interstitial pulmonary disease, autoimmune enteropathy, exocrine pancreatic insufficiency and delayed growth. She developed transfusion-dependent, Coombs-negative anemia at age of 15. In the PB, 50% of the lymphocytes were LGLs. BM showed pure red cell aplasia plus LGL infiltration of TCRgd positive T cells (CD3+, CD2+, CD5+, CD8-/+, CD4-/+, CD57+) at 43% of BM cellularity. Clonal TCRg rearrangement was detected. Hypogammaglobulinemia presented at age of 7. T, B and NK cell counts were low normal, but DCs were non-existent. WES and functional studies revealed a germline gain-of-function mutation of STAT3 gene. Patient 3 is 42-year old female who has had severe infections (bacterial, viral and protozoan) starting at the age of 4 months. From age of 9, autoimmune manifestations occurred with immune thrombocytopenia, neutropenia and anemia, and intensively positive rheumatoid factor. Since age of 17, CD8+ LGLs were detected in PB reaching level of 50% of lymphocytes. In the BM, CD3+CD5-CD56- T -lymphocyte infiltration with clonal TCRd rearrangement was detected. In her 30ies she developed pulmonal arterial hypertension and hypogammaglobulinemia (0.8 g/L). She has low counts of B cells (0.02x109/L), and monocytoid (1.9x106/L) and plasmacytoid (0) DCs. WES identified a homozygous germline missense mutation in CECR1 gene, leading to total loss-of-function of the encoded adenosine deaminase 2 (ADA2) protein. Patient 4 presented with waxing and waning skin nodules from age of 10 years, but no severe infections or allergies. At age of 26, she was diagnosed with hemolytic anemia with spherocytosis, splenomegaly and cholelithiasis. Five years later remarkable hepatomegaly, and clinical autoimmune manifestations with SLE-type skin lesions, autoimmune hemolytic anemia and iritis were observed. Complement C3 (0.17 g/l) and C4 (<0.02 g/L) and NK cell (0.081) levels were low, but CD3, CD8 and CD4 counts and IgM and IgG levels were increased. T-cell infiltration was shown in the skin nodules and liver. BM showed mildly decreased myelo- and erythropoiesis and T cell infiltration (CD3+, CD8+, CD7+, CD45RO+, BCL2+, CD56-) up to 70% of the BM cellularity consistent with LGL infiltration. WES identified the same germline missense mutation in CECR1 gene as seen in patient 3, and a functional analysis showed no ADA2 activity. We conclude that LGL lymphoproliferation in young patients is often a sign of underlying primary immunodeficiency, highlighting the need for detailed genetic studies in these cases. Table 1. Patient Age at LGL LGL in PB(109/L) LGL immune-phenotype Clonality BM LGL infiltration Clinical PID 1 13 0.38 NK NA 40% N,THepatomegaly GATA2 deficiency 2 15 1.79 CTL TCRg 43% AutoimmunityAHepatosplenomegaly STAT3 hyperactivation 3 17 1,49 CTL TCRd NA N,T, AAutoimmunityPulmonary arterial hypertension ADA2 deficiency 4 31 NA CTL TCRg weak 40% AutoimmunityHepatosplenomegalyHepatopulmonal syndrome ADA2 deficiency A, anemia; N, neutropenia, CTL, cytotoxic T cell; LGL, large granular lymphocyte; NK, natural killer cell; PID, primary immune deficiency; TCR, T cell receptor; T, thrombocytopenia Disclosures Mustjoki: Signe and Ane Gyllenberg Foundation: Research Funding; Finnish Cancer Institute: Research Funding; Sigrid Juselius Foundation: Research Funding; Academy of Finland: Research Funding; the Finnish Cancer Societies: Research Funding; Pfizer: Honoraria, Research Funding; Bristol-Myers Squibb: Honoraria, Research Funding; Novartis: Honoraria, Research Funding. Siitonen:Pzizer: Other: charges of EAHAD congress 2015; Novartis: Other: charges of EHA congress 2015. Saarela:Roche: Honoraria.

Altered Fine Structure of B Lymphocytes Correlated with Defective Terminal Differentiation

1973 ◽  
Vol 31 ◽  
pp. 386-387
Author(s):  
Dale E. Bockman ◽  
L. Y. Frank Wu ◽  
Alexander R. Lawton ◽  
Max D. Cooper
Keyword(s):  
Immune Deficiency ◽  
B Lymphocytes ◽  
Plasma Cells ◽  
Present Report ◽  
Specific Antigen ◽  
Terminal Differentiation ◽  
Second Stage ◽  
Two Stages ◽  
Deficiency Diseases ◽  
Cell Line Generation

B-lymphocytes normally synthesize small amounts of immunoglobulin, some of which is incorporated into the cell membrane where it serves as receptor of antigen. These cells, on contact with specific antigen, proliferate and differentiate to plasma cells which synthesize and secrete large quantities of immunoglobulin. The two stages of differentiation of this cell line (generation of B-lymphocytes and antigen-driven maturation to plasma cells) are clearly separable during ontogeny and in some immune deficiency diseases. The present report describes morphologic aberrations of B-lymphocytes in two diseases in which second stage differentiation is defective.

Efficacy of a new chromatography-based IVIG (10%-formulation) on validated sinopulmonary infections in primary immune deficiency

2002 ◽  
Vol 109 (1) ◽  
pp. S190-S190
Author(s):  
Harold Schroeder ◽  
Melvin Berger ◽  
Anita T Gewurz ◽  
Phillip Korenblat ◽  
Chain Roifman ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Primary Immune Deficiency

Adult Primary Immune Deficiency: What Are We Missing?

2012 ◽  
Vol 125 (8) ◽  
pp. 779-786 ◽  
Author(s):  
Bharat T. Srinivasa ◽  
Reza Alizadehfar ◽  
Martin Desrosiers ◽  
Joseph Shuster ◽  
Nitika Pant Pai ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Primary Immune Deficiency

scholarly journals Recognizing Primary Immune Deficiency in Clinical Practice

2006 ◽  
Vol 13 (3) ◽  
pp. 329-332 ◽  
Author(s):  
Hale Yarmohammadi ◽  
Lissette Estrella ◽  
John Doucette ◽  
Charlotte Cunningham-Rundles
Keyword(s):  
Immune Deficiency ◽  
Clinical Practice ◽  
Organ Dysfunction ◽  
Primary Immunodeficiency ◽  
Scoring System ◽  
Clinical Information ◽  
Chronic Illnesses ◽  
Primary Immune Deficiency ◽  
Recurrent Infections

ABSTRACT Primary immunodeficiency results in recurrent infections, organ dysfunction, and autoimmunity. We studied 237 patients referred for suspicion of immunodeficiency, using a scoring system based on clinical information. The 113 patients with immunodeficiency had higher scores and more episodes of chronic illnesses and were more likely to have neutropenia, lymphopenia, or splenomegaly.

DIAGNOSIS OF ANAPLASIA AND CARCINOMA IN SITU BY DIFFERENTIAL CELL COUNTS

1962 ◽  
Vol 17 (6) ◽  
pp. 867-868 ◽  
Author(s):  
TAKASHI OKAGAKI ◽  
VIRGINIA LERCH ◽  
PAUL A. YOUNGE ◽  
DONALD G. MCKAY ◽  
ALBERT Y. KEVORKIAN
Keyword(s):  
Carcinoma In Situ ◽  
Cell Counts ◽  
Differential Cell
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