Autoimmunity, and Pancytopenia

Diseases related with Autoimmunity and Pancytopenia

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


Top matches:

Medium match THIOPURINES, POOR METABOLISM OF, 1; THPM1


THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989).The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (OMIM ) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005). Genetic Heterogeneity of Poor Thiopurine MetabolismSee also THPM2 (OMIM ), caused by variation in the NUDT15 gene (OMIM ) on chromosome 13q14.

THIOPURINES, POOR METABOLISM OF, 1; THPM1 Is also known as thiopurine s-methyltransferase deficiency|tpmt deficiency|tpmtd

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Autoimmunity
  • Leukemia
  • Pancytopenia
  • Bone marrow hypocellularity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIOPURINES, POOR METABOLISM OF, 1; THPM1

Medium match LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2


Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Medium match THROMBOCYTOPENIA 2; THC2


Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011).

THROMBOCYTOPENIA 2; THC2 Is also known as thrombocytopenia, autosomal dominant, 2

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hydronephrosis
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM MESH MENDELIAN

More info about THROMBOCYTOPENIA 2; THC2

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Other less relevant matches:

Medium match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Medium match RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE


RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

Medium match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

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 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Autoimmunity and Pancytopenia

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

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

Common Symptoms - More than 50% cases


Decreased antibody level in blood

Uncommon Symptoms - Between 30% and 50% cases


Lymphadenopathy

Common Symptoms - More than 50% cases


Hepatosplenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Combined immunodeficiency Lymphoma Arthritis Thrombocytopenia Hepatomegaly Hemolytic anemia Purpura Pneumonia Respiratory tract infection Recurrent respiratory infections Lymphopenia Autoimmune hemolytic anemia Recurrent upper respiratory tract infections Vasculitis Immune dysregulation Neutropenia Autoimmune thrombocytopenia Otitis media Neoplasm Leukemia Generalized lymphadenopathy Lymphoproliferative disorder Leukopenia

Rare Symptoms - Less than 30% cases


Intellectual disability Skin rash Recurrent otitis media Diarrhea Growth delay Chronic diarrhea Conjunctivitis Follicular hyperplasia Pain Hearing impairment Ataxia Inflammation of the large intestine IgM deficiency Interstitial pneumonitis Sensorineural hearing impairment Hypertension Intellectual disability, mild Optic atrophy Thrombocytosis Peripheral neuropathy Chronic otitis media Hemophagocytosis Hodgkin lymphoma Bruising susceptibility Ascites Elevated erythrocyte sedimentation rate Aplastic anemia Glomerulonephritis Abnormal bleeding Inguinal hernia Areflexia Delayed skeletal maturation Babinski sign Osteopenia Prominent forehead Absent microvilli on the surface of peripheral blood lymphocytes Depressivity Hernia Midface retrusion Gait ataxia Mandibular prognathia Macrotia Kyphoscoliosis Delayed speech and language development Skeletal dysplasia Abnormality of the cerebral white matter Genu valgum Large vessel vasculitis Small vessel vasculitis Abnormality of the foot Hypermetropia Recurrent intrapulmonary hemorrhage Chronic leukemia Coarse facial features Neurological speech impairment Corneal opacity Broad forehead Pectus carinatum Mental deterioration Anxiety Abnormal delayed hypersensitivity skin test Umbilical hernia Cerebral atrophy Reduced lymphocyte surface expression of CD43 Nystagmus Generalized hypotonia Scoliosis Hypertelorism Myopia Dysarthria Dysmetria Epicanthus Global developmental delay Motor delay Strabismus Muscle weakness Depressed nasal bridge Muscular hypotonia Cataract Spasticity Skeletal muscle atrophy Oral bleeding Specific anti-polysaccharide antibody deficiency Myopathy Cognitive impairment Malar flattening Kyphosis Behavioral abnormality Abnormality of the dentition Cerebellar atrophy Intellectual disability, severe Macrocephaly Hydrocephalus Short neck Ventriculomegaly Talipes equinovarus Abnormality of the skeletal system Frontal bossing Gait disturbance Hyperreflexia Spastic gait Confusion Spondylolisthesis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Abnormality of the helix Abnormality of the gingiva Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Cranial hyperostosis Long ear Limb dystonia Hypoplastic inferior ilia Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Decreased pulmonary function Retinal thinning Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Aseptic necrosis Bronchitis Retinal degeneration Hip dysplasia Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Type II diabetes mellitus Optic disc pallor Peripheral demyelination Dental malocclusion Tall stature Delayed myelination Gliosis Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Bowing of the long bones Amblyopia Thickened calvaria Heart murmur Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Prominent supraorbital ridges Gingival overgrowth Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Congenital thrombocytopenia Hallucinations Limb ataxia Reduced delayed hypersensitivity Abnormality of metabolism/homeostasis Abnormal platelet morphology Abdominal pain Ophthalmoplegia Papule Stroke Abnormality of the liver Myalgia Elevated hepatic transaminase Dilatation Hemiparesis Headache Thiamine-responsive megaloblastic anemia Decreased methylcobalamin Septic arthritis Asthenia Folate deficiency Hemolytic-uremic syndrome Paraplegia Foot dorsiflexor weakness Megaloblastic anemia Granulocytopenia Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Erythema nodosum Hypercoagulability Ischemic stroke Raynaud phenomenon Aphasia Agitation Leukocytosis Cerebral hemorrhage Cutis marmorata Hemiplegia Anisocytosis Antinuclear antibody positivity Failure to thrive Hematuria IgG deficiency Pericardial effusion Pleural effusion Increased mean platelet volume Abnormal thrombocyte morphology Menorrhagia Hydronephrosis Stomatitis T-cell lymphoma Impaired T cell function Uveitis Acute lymphoblastic leukemia Abnormality of blood and blood-forming tissues Pancreatitis Bone marrow hypocellularity Pulmonary infiltrates Recurrent aphthous stomatitis Severe combined immunodeficiency Vomiting Macrocytic anemia Recurrent urinary tract infections Bilateral sensorineural hearing impairment Metabolic acidosis Retinopathy Pallor Acidosis Seizures Histiocytosis Decreased lymphocyte apoptosis Monocytosis Lymphocytosis Increased antibody level in blood Cardiac arrest Dysgammaglobulinemia Granulomatosis Central retinal artery occlusion Congestive heart failure Decreased mean platelet volume Focal segmental glomerulosclerosis Iron deficiency anemia Glomerulopathy Microcytic anemia Cellulitis Prolonged bleeding time Petechiae Keratitis Blepharitis Hyperostosis Rheumatoid arthritis Glomerulosclerosis Urticaria Intracranial hemorrhage Sarcoma Chronic kidney disease Gingival bleeding Recurrent lower respiratory tract infections Skin ulcer Hematemesis Abnormal platelet function Internal hemorrhage Abnormal eosinophil morphology Bloody diarrhea Spontaneous hematomas Melena Increased IgA level Acute leukemia Membranoproliferative glomerulonephritis Abnormality of the menstrual cycle Increased IgE level Recurrent ear infections Hypoplasia of the thymus Chronic obstructive pulmonary disease Hematochezia Meningitis Sinusitis Diabetes mellitus Clubbing Exocrine pancreatic insufficiency Fatigable weakness IgA deficiency Recurrent sinusitis Colitis Interstitial pulmonary abnormality Abnormal intestine morphology Clubbing of fingers Type I diabetes mellitus Bronchiectasis Abnormal lung morphology Inflammatory abnormality of the skin Asthma Hypothyroidism Respiratory failure Chronic lung disease Villous atrophy Epistaxis Proteinuria Eczema Specific learning disability Sudden cardiac death Chest pain Sepsis Nephropathy Cough Dyspnea Brain neoplasm Arrhythmia Renal insufficiency Fatigue Burkitt lymphoma Gastritis Cor pulmonale Verrucae Spinocerebellar tract disease in lower limbs



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