Autoimmunity, and Eosinophilia

Diseases related with Autoimmunity and Eosinophilia

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


Top matches:

Low match PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID


PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

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Other less relevant matches:

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 HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY


Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Low 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

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

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Eosinophilia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Autoimmunity and Eosinophilia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Immunodeficiency

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Hemolytic anemia Autoimmune hemolytic anemia Inflammatory abnormality of the skin Hepatosplenomegaly Antinuclear antibody positivity Leukemia Lymphocytosis Failure to thrive Combined immunodeficiency Recurrent viral infections Autoimmune thrombocytopenia Neoplasm Follicular hyperplasia Recurrent fungal infections Hepatitis Sepsis Increased antibody level in blood Lymphoma Diarrhea Chronic lymphatic leukemia Pneumonia Skin rash Asthma Vasculitis Sinusitis Nephrotic syndrome Cellular immunodeficiency Recurrent bacterial infections Purpura

Rare Symptoms - Less than 30% cases


Severe B lymphocytopenia Eczema B lymphocytopenia Hypothyroidism Arthritis Respiratory tract infection IgM deficiency Hodgkin lymphoma B-cell lymphoma Generalized lymphadenopathy Erythroderma Edema Recurrent lower respiratory tract infections Thyroiditis Malnutrition Increased proportion of HLA DR+ T cells Recurrent upper respiratory tract infections Increased IgM level Urticaria Nephritis Petechiae Iron deficiency anemia Severe combined immunodeficiency Chronic noninfectious lymphadenopathy Cervical lymphadenopathy Chronic diarrhea Increased IgA level Antiphospholipid antibody positivity Immune dysregulation Autoimmune neutropenia Elevated erythrocyte sedimentation rate Rheumatoid factor positive Smooth muscle antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Recurrent otitis media Decreased lymphocyte apoptosis Antineutrophil antibody positivity Platelet antibody positive Fever Leukocytosis Coombs-positive hemolytic anemia Reduced delayed hypersensitivity Increased IgG level Neutropenia Lymphopenia Recurrent pneumonia Aplasia/Hypoplasia of the eyebrow Metaphyseal chondrodysplasia Platyspondyly Hashimoto thyroiditis Recurrent respiratory infections Abnormality of the skeletal system Hypoplasia of the thymus Global developmental delay Hypoproteinemia Desquamation of skin soon after birth Abnormal lymphocyte morphology Protracted diarrhea Hypertension Anti-thyroid peroxidase antibody positivity Leukoencephalopathy Lack of T cell function Non-Hodgkin lymphoma Lung adenocarcinoma Lymphoproliferative disorder Acute leukemia Hyperthyroidism Rheumatoid arthritis Systemic lupus erythematosus Neurodegeneration Abnormal erythrocyte morphology Leukopenia Absent specific antibody response Reduced red cell adenosine deaminase activity Disproportionate short-limb short stature Abnormality of humoral immunity Abnormality of pelvic girdle bone morphology Absent tonsils Absence of lymph node germinal center Immunoglobulin IgG2 deficiency Recurrent opportunistic infections Cortical sclerosis Aplasia of the thymus Anterior rib cupping Diffuse mesangial sclerosis Decrease in T cell count Pulmonary insufficiency Increased IgE level Allergy Verrucae IgA deficiency Scaling skin Abnormality of the dentition Shock Hyperglycemia Basal cell carcinoma Glomerulonephritis Carcinoma Renal insufficiency Secretory diarrhea Intractable diarrhea Pancreatic hypoplasia Ileus Villous atrophy Ketoacidosis Abnormality of the thyroid gland Abnormality of the coagulation cascade Abnormal intestine morphology Hepatocellular carcinoma Type I diabetes mellitus Cardiac arrest Diabetes mellitus Intrauterine growth retardation Growth delay Increased B cell count Malar rash Reticulocytosis Gastrointestinal hemorrhage Decreased mean platelet volume Abnormal thrombocyte morphology Inflammation of the large intestine Uveitis Multiple myeloma Increased body weight Recurrent sinopulmonary infections Short toe Thickened skin Abnormality of the metaphysis Dry skin Hypotrichosis Pruritus Papule Severe short stature Alopecia Anaphylactic shock Recurrent upper and lower respiratory tract infections Cerebral vasculitis Esophagitis Generalized edema Atopic dermatitis Subarachnoid hemorrhage Recurrent sinusitis Pericarditis Osteomyelitis Hemiplegia Recurrent skin infections Meningitis Abnormal lung morphology Otitis media Coarse facial features Intermediate uveitis Extramedullary hematopoiesis Humoral immunodeficiency



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