Autoimmunity, and Chronic myelogenous leukemia

Diseases related with Autoimmunity and Chronic myelogenous leukemia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Chronic myelogenous leukemia that can help you solving undiagnosed cases.


Top matches:

Medium match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Medium match SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Low match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

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Other less relevant matches:

Low match IMMUNODEFICIENCY 36; IMD36


IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Low match PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS


Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.

PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS Is also known as persistent polyclonal b-cell lymphocytosis with binucleated lymphocytes|ppbl

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Low match HEREDITARY ANGIOEDEMA TYPE 1


Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Low match WISKOTT-ALDRICH SYNDROME


Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

Low match SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE


Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE Is also known as systemic mastocytosis with associated hematologic neoplasm|sm-ahnmd|sm-ahn

Related symptoms:

  • Eosinophilia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Chronic myelogenous leukemia
  • Non-Hodgkin lymphoma


SOURCES: ORPHANET MENDELIAN

More info about SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

Low match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Top 5 symptoms//phenotypes associated to Autoimmunity and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Chronic lymphatic leukemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lymphadenopathy Purpura Neoplasm Lymphoma Vasculitis Diarrhea Hodgkin lymphoma Recurrent upper respiratory tract infections Lymphocytosis Immunodeficiency Petechiae Glomerulonephritis Recurrent infections Urticaria Respiratory tract infection Arthritis Edema Hepatomegaly Peripheral neuropathy Hemolytic anemia

Rare Symptoms - Less than 30% cases


Non-Hodgkin lymphoma Lymphoproliferative disorder B-cell lymphoma Recurrent respiratory infections IgM deficiency Chronic diarrhea Lymphopenia Sinusitis Antinuclear antibody positivity Generalized lymphadenopathy Follicular hyperplasia Renal insufficiency Eosinophilia Iron deficiency anemia Multiple myeloma Increased IgA level Reduced delayed hypersensitivity Dyspnea Acute leukemia Inflammation of the large intestine Systemic lupus erythematosus Rheumatoid arthritis Abnormal bleeding Autoimmune thrombocytopenia Hepatosplenomegaly Blepharitis Interstitial pneumonitis Specific learning disability Chest pain Acute myeloid leukemia Sudden cardiac death Otitis media Epistaxis Eczema Pancytopenia Neutropenia Recurrent otitis media Myelodysplasia Skin ulcer Meningitis Conjunctivitis Oral bleeding Sepsis Cough Nephropathy Laryngeal edema Cryoglobulinemia Abnormal soft palate morphology Abnormal respiratory system morphology Pharyngeal edema Intestinal edema Abnormality of the uvula Tongue edema Abnormal epiglottis morphology Limbal edema Bruising susceptibility Abnormality of salivation Fever Mastocytosis Fatigue Arrhythmia Pneumonia Proteinuria Sarcoma Chronic kidney disease Chronic otitis media Intracranial hemorrhage Internal hemorrhage Hematochezia Dermatographic urticaria Chronic obstructive pulmonary disease Hypoplasia of the thymus Decreased mean platelet volume Recurrent ear infections Abnormal platelet function Abnormal eosinophil morphology Gingival bleeding Increased IgE level Bloody diarrhea Abnormality of the menstrual cycle Spontaneous hematomas Membranoproliferative glomerulonephritis Melena Hematemesis Recurrent lower respiratory tract infections Glomerulopathy Specific anti-polysaccharide antibody deficiency Chronic leukemia Glomerulosclerosis Reduced lymphocyte surface expression of CD43 Hyperostosis Keratitis Focal segmental glomerulosclerosis Abnormal delayed hypersensitivity skin test Absent microvilli on the surface of peripheral blood lymphocytes Combined immunodeficiency Abnormal platelet morphology Prolonged bleeding time Recurrent intrapulmonary hemorrhage Cellulitis Small vessel vasculitis Large vessel vasculitis Congenital thrombocytopenia Microcytic anemia Edema of the dorsum of hands Smooth muscle antibody positivity Facial edema Recurrent bacterial infections Neurodegeneration Hyperthyroidism Cellular immunodeficiency Lung adenocarcinoma Growth delay Decreased antibody level in blood Bronchiectasis Neurodevelopmental delay Elevated serum acid phosphatase Allergy Recurrent sinopulmonary infections Enlarged tonsils Leukocytosis Humoral immunodeficiency Carcinoma Hepatitis Sea-blue histiocytosis Absent axillary hair Basal cell carcinoma Retinopathy Leukopenia Abnormal erythrocyte morphology Seizures Ataxia Gait disturbance Dementia Abnormality of the eye Cirrhosis Mediastinal lymphadenopathy Hypopigmentation of the skin Hypertriglyceridemia Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Pulmonary infiltrates Histiocytosis Mucopolysacchariduria Increased antibody level in blood Autoimmune hemolytic anemia Angioedema Hypotension Abnormality of metabolism/homeostasis Abdominal pain Weight loss Erythema Paresthesia Peripheral axonal neuropathy Nausea Hoarse voice Respiratory distress Polycystic ovaries Stridor Axonal degeneration Upper airway obstruction Abnormality of the larynx Ovarian cyst Inspiratory stridor Vomiting Dysphagia Uveitis Increased IgG level Hepatocellular carcinoma Generalized edema Extramedullary hematopoiesis Chronic noninfectious lymphadenopathy Antiphospholipid antibody positivity Increased IgM level Autoimmune neutropenia Cervical lymphadenopathy Pain Rheumatoid factor positive Coombs-positive hemolytic anemia Platelet antibody positive Decreased lymphocyte apoptosis Antineutrophil antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased proportion of HLA DR+ T cells Intermediate uveitis Chronic myelomonocytic leukemia



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