Immunodeficiency, and Paraplegia

Diseases related with Immunodeficiency and Paraplegia

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

Top matches:

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

X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Other less relevant matches:

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 Is also known as herpes simplex encephalitis, susceptibility to, 6

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Edema
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

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

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Top 5 symptoms//phenotypes associated to Immunodeficiency and Paraplegia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Paraplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hemiparesis Pancytopenia Thrombocytopenia Global developmental delay Generalized hypotonia Leukopenia Mental deterioration Splenomegaly Hepatomegaly Hemiplegia Pneumonia Edema Cognitive impairment Peripheral neuropathy Pure red cell aplasia Optic atrophy Neoplasm Recurrent infections Hepatosplenomegaly Meningitis Lymphoma Lymphadenopathy Tetraplegia

Rare Symptoms - Less than 30% cases

Dystonia Recurrent lower respiratory tract infections Slurred speech Failure to thrive Paraparesis Recurrent viral infections Hyperpigmentation of the skin Cerebral vasculitis Muscular hypotonia Eosinophilia Peripheral demyelination Choreoathetosis Neurodegeneration Spastic paraplegia Fatigue Spastic tetraplegia Paralysis Autoimmune hemolytic anemia Sinusitis Recurrent bacterial infections Tremor Parkinsonism Falls Increased antibody level in blood Spastic tetraparesis Developmental regression Abnormality of the eye EEG abnormality Nystagmus Encephalitis Pain Respiratory distress Abnormality of the dentition Cerebral edema Spinocerebellar tract degeneration Otitis media Inflammatory abnormality of the skin Lethargy Areflexia Tetraparesis Reduced visual acuity Visual impairment Headache Dilatation Stroke Decreased antibody level in blood Foot dorsiflexor weakness Vasculitis Cerebral hemorrhage Combined immunodeficiency Immune dysregulation Hearing impairment Spasticity Ischemic stroke Lymphopenia Behavioral abnormality Hypouricemia Muscle stiffness Hyperhidrosis Dyspnea Generalized tonic-clonic seizures Abnormality of eye movement Hirsutism Chorea Migraine Esotropia Status epilepticus Involuntary movements Exotropia Bradycardia Stridor Abnormal autonomic nervous system physiology Dysphagia Impulsivity Oral-pharyngeal dysphagia Anhidrosis Wheezing Facial paralysis Abnormality of the mitochondrion Bronchospasm Episodic quadriplegia Autoimmune thrombocytopenia Episodic hemiplegia Abnormal pyramidal sign Respiratory failure Pes cavus Sensorineural hearing impairment Prominent nose Hyperglycinemia Severe combined immunodeficiency Pancreatitis Hyperammonemia Recurrent upper respiratory tract infections Macrocytic anemia Tubulointerstitial nephritis Ketonuria Delayed CNS myelination Organic aciduria Natal tooth Methylmalonic aciduria Homocystinuria Myopathic facies Psoriasiform dermatitis Memory impairment Wormian bones Short palpebral fissure Methylmalonic acidemia Tubulointerstitial abnormality Abnormal globus pallidus morphology Cerebellar hemorrhage Chronic metabolic acidosis Metabolic ketoacidosis Obesity Confusion Narrow forehead Spastic diplegia Herpes simplex encephalitis Hepatic failure Bronchiectasis Recurrent fungal infections Lymph node hypoplasia Fulminant hepatitis Absent speech Coarse facial features Hemolytic anemia Delayed speech and language development Abnormal facial shape Asthma Micrognathia Dehydration Hypertelorism Recurrent otitis media Abnormal lung morphology Abnormality of B cell physiology Brain abscess Pharyngitis Recurrent skin infections Osteomyelitis Recurrent opportunistic infections Pericarditis Recurrent sinusitis Subarachnoid hemorrhage Atopic dermatitis Anaphylactic shock Recurrent upper and lower respiratory tract infections Esophagitis Abnormal T cell morphology Recurrent sinopulmonary infections Autoimmune neutropenia Reduced natural killer cell activity Non-Hodgkin lymphoma Bone marrow hypocellularity Impaired T cell function Babinski sign Sarcoma Severe global developmental delay Hodgkin lymphoma IgG deficiency Recurrent urinary tract infections Short philtrum Agammaglobulinemia B-cell lymphoma Aplastic anemia Recurrent pharyngitis Cellular immunodeficiency Lymphocytosis Umbilical hernia Burkitt lymphoma Histiocytosis Hepatic encephalopathy Granulomatosis Narrow mouth Chorioretinitis Increased IgM level Motor delay Upslanted palpebral fissure Posteriorly rotated ears Agenesis of corpus callosum Hernia Dysgammaglobulinemia Hepatic necrosis Eczema Progressive peripheral neuropathy Aciduria Truncal ataxia Adrenal insufficiency Emotional lability Personality changes Abnormality of mitochondrial metabolism Incoordination Spastic paraparesis Leukodystrophy Abnormality of color vision Limb ataxia Psychosis Hypotension Urinary incontinence Abnormal cerebellum morphology Polyneuropathy Impotence Bowel incontinence Abnormality of the cerebral white matter Vegetative state Monochromacy Psychotic episodes Mania Progressive spastic paraparesis Decreased circulating aldosterone level Myelopathy Achalasia Axonal degeneration Tubular atrophy Dyschromatopsia Adrenal hypoplasia Urinary bladder sphincter dysfunction Loss of speech Primary adrenal insufficiency Bulbar palsy Retinal dystrophy Attention deficit hyperactivity disorder Elevated long chain fatty acids Papule Aphasia Agitation Leukocytosis Cutis marmorata Purpura Ophthalmoplegia Skin rash Thrombocytosis Abnormality of the liver Arthritis Myalgia Elevated hepatic transaminase Abdominal pain Hypertension Elevated erythrocyte sedimentation rate Raynaud phenomenon Gait ataxia Ventricular septal defect Hyperactivity Hypogonadism Dementia Visual loss Encephalopathy Blindness Abnormality of the skeletal system Hypercoagulability Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Blue cone monochromacy Cone monochromacy Postural instability Hemophagocytosis Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism White hair Recurrent cutaneous abscess formation Generalized hypopigmentation Fair hair Periodontitis Gingivitis Iris hypopigmentation Gingival bleeding Abnormal leukocyte morphology Giant melanosomes in melanocytes Generalized hyperpigmentation Abnormality of the kidney Coma Metabolic acidosis Nephropathy Stage 5 chronic kidney disease Nausea and vomiting Neurological speech impairment Acidosis Abnormality of multiple cell lineages in the bone marrow Diabetes mellitus Renal insufficiency Vomiting Cardiomyopathy Respiratory insufficiency Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Hypopigmentation of hair Resting tremor Strabismus Difficulty walking Peripheral axonal neuropathy Paresthesia Abnormality of movement Leukemia Rigidity Photophobia Jaundice Sensory neuropathy Recurrent respiratory infections Hyporeflexia Cerebellar atrophy Atrial septal defect Gait disturbance Skeletal muscle atrophy Bruising susceptibility Neutropenia Sensory axonal neuropathy Amblyopia Albinism Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Cranial nerve paralysis Skin ulcer Hypertriglyceridemia Hypopigmentation of the skin Cutaneous photosensitivity Epistaxis Abnormality of extrapyramidal motor function Bradykinesia Gastrointestinal hemorrhage Brain atrophy Abnormal bleeding Pulmonary artery stenosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Fatigue, related diseases and genetic alterations Melanoma and Renal hypoplasia, related diseases and genetic alterations Hyperreflexia and Systemic lupus erythematosus, related diseases and genetic alterations