Autoimmunity, and Leukoencephalopathy

Diseases related with Autoimmunity and Leukoencephalopathy

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


Top matches:

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY


IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

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Other less relevant matches:

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 AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

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 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH


IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Low match ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY


Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.

ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY Is also known as prosaposin deficiency|combined sap deficiency|psapd|combined prosaposin deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY

Low match SJOGREN-LARSSON SYNDROME; SLS


Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).

SJOGREN-LARSSON SYNDROME; SLS Is also known as ichthyosis, spastic neurologic disorder, and oligophrenia|faldh deficiency|fatty alcohol:nad+ oxidoreductase deficiency|fatty aldehyde dehydrogenase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SJOGREN-LARSSON SYNDROME; SLS

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B


Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Top 5 symptoms//phenotypes associated to Autoimmunity and Leukoencephalopathy

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Seizures Failure to thrive Abnormality of the cerebral white matter Hepatomegaly Anemia Pneumonia Hemolytic anemia Spasticity Sepsis Generalized hypotonia Hepatitis Diarrhea IgA deficiency Intellectual disability Encephalitis Recurrent respiratory infections Autoimmune hemolytic anemia Short stature Decreased antibody level in blood Lymphopenia

Rare Symptoms - Less than 30% cases


Recurrent lower respiratory tract infections Dystonia Absence of lymph node germinal center Growth delay CNS demyelination B lymphocytopenia Feeding difficulties Abnormality of the skeletal system Cerebral cortical atrophy Decrease in T cell count Respiratory tract infection Tetraplegia Peripheral demyelination Autoimmune thrombocytopenia Recurrent upper respiratory tract infections Spastic tetraplegia Spastic diplegia Purpura Inflammatory abnormality of the skin IgM deficiency Dilatation Neutropenia Chronic diarrhea Severe combined immunodeficiency Carcinoma Recurrent bacterial infections Bronchiectasis Recurrent pneumonia Clumsiness Fever Recurrent otitis media Immune dysregulation Cerebral palsy Combined immunodeficiency Villous atrophy Motor delay Generalized osteoporosis Chronic mucocutaneous candidiasis Enterocolitis Thoracic kyphosis Primary hypothyroidism Antiphospholipid antibody positivity Renal artery stenosis Autoimmune neutropenia Functional abnormality of the bladder Carotid artery dilatation Recurrent Aspergillus infections Susceptibility to herpesvirus Oropharyngeal squamous cell carcinoma Esophageal carcinoma Medial calcification of large arteries Abnormal serum interferon-gamma level Renovascular hypertension Dilatation of the cerebral artery Macrocephaly Autism Absent specific antibody response Diffuse white matter abnormalities Megalencephaly Congestive heart failure Delayed skeletal maturation Diabetes mellitus Hypothyroidism Osteopenia Delayed puberty Eczema Abnormality of the endocrine system Pulmonary arterial hypertension Type I diabetes mellitus Abnormal intestine morphology Patent foramen ovale Inflammation of the large intestine Thyroiditis Pulmonary embolism Hashimoto thyroiditis Leukopenia Leukemia Tremor Abnormal erythrocyte morphology Photophobia Hyperkinesis Generalized hyperkeratosis Abnormality of the periventricular white matter Astrocytosis Retinal pigment epithelial atrophy Abnormality of glycosphingolipid metabolism Generalized clonic seizures Myopia Hyperkeratosis Abnormality of the nervous system Fasciculations Erythema Astigmatism Ichthyosis Hypoplasia of dental enamel Paraparesis Spastic paraparesis Ecchymosis Macular degeneration Erythroderma Macular dystrophy Retinal thinning Anti-thyroid peroxidase antibody positivity Ataxia Bicuspid aortic valve Delayed speech and language development Macular crystals Congenital ichthyosiform erythroderma Cardiomyopathy Atrial septal defect Intellectual disability, mild Abnormal heart morphology Hoarse voice Absence seizures Opacification of the corneal epithelium Recurrent skin infections Neuronal loss in central nervous system Generalized ichthyosis Abnormal macular morphology Muscular hypotonia Optic atrophy Respiratory insufficiency Hypoplasia of the corpus callosum Babinski sign Myoclonus Generalized tonic-clonic seizures Abnormality of eye movement Reduced red cell adenosine deaminase activity Asthma Lack of T cell function Cerebellar atrophy Impaired Ig class switch recombination Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Microcephaly Nystagmus Strabismus Cerebral atrophy Cholangiocarcinoma Encephalopathy Agenesis of corpus callosum Glaucoma Elevated hepatic transaminase Muscular hypotonia of the trunk Feeding difficulties in infancy Irritability Skin rash Severe global developmental delay Brain atrophy Decreased T cell activation Sclerosing cholangitis Abnormality of extrapyramidal motor function Neurodegeneration Lymphadenopathy Abnormal lung morphology Recurrent urinary tract infections Increased antibody level in blood Chronic lung disease Cognitive impairment Dysarthria Weight loss Abnormality of the liver Otitis media Increased IgM level Choreoathetosis Involuntary movements Hepatocellular carcinoma IgG deficiency Gingivitis Agammaglobulinemia Cholangitis Stomatitis Chronic hepatitis Dysgammaglobulinemia Cerebral calcification Intellectual disability, profound Severe B lymphocytopenia Cellular immunodeficiency Platyspondyly Sinusitis Eosinophilia Abnormality of pelvic girdle bone morphology Malnutrition B-cell lymphoma Recurrent viral infections Verrucae Allergy Increased IgE level Increased CSF interferon alpha Pulmonary insufficiency Diffuse mesangial sclerosis Recurrent fungal infections Anterior rib cupping Aplasia of the thymus Cortical sclerosis Recurrent opportunistic infections Immunoglobulin IgG2 deficiency Absent tonsils Abnormality of humoral immunity Hypertension Deep white matter hypodensities Postnatal microcephaly Episodic fever Progressive microcephaly Leukodystrophy Poor head control Systemic lupus erythematosus Petechiae Congenital glaucoma Prolonged neonatal jaundice Basal ganglia calcification Atrophy/Degeneration affecting the brainstem Progressive encephalopathy Chronic CSF lymphocytosis Acrocyanosis Diffuse cerebral atrophy Morphological abnormality of the pyramidal tract Vegetative state Lymphocytosis CSF pleocytosis Autoamputation Multiple gastric polyps CSF lymphocytic pleiocytosis Chilblains Diffuse swelling of cerebral white matter



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