Immunodeficiency, and Fatigue

Diseases related with Immunodeficiency and Fatigue

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

Top matches:

Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by Berrington and Hawn, 2007).

Related symptoms:

  • Pain
  • Fever
  • Fatigue
  • Immunodeficiency
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).

ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME Is also known as acquired hbh disease|acquired hemoglobin h disease|atmds|hemoglobin h disease, acquired

Related symptoms:

  • Intellectual disability
  • Anemia
  • Fatigue
  • Splenomegaly
  • Immunodeficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Other less relevant matches:

Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Medium match KAPOSI SARCOMA

Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

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

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Medium match CUSHING DISEASE

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Fatigue

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Skin rash Thrombocytopenia Lymphadenopathy Anemia Weight loss Global developmental delay Recurrent respiratory infections Bruising susceptibility Respiratory insufficiency Pneumonia Ataxia Cough Migraine Intellectual disability Lymphoma

Rare Symptoms - Less than 30% cases

Dystonia Optic atrophy Respiratory distress Hypertension Sensorineural hearing impairment Hearing impairment Seizures Edema Diarrhea Lymphedema Pain Headache Dehydration Cellulitis Visual loss Chronic otitis media Recurrent skin infections Neurological speech impairment Nausea and vomiting Epicanthus Lethargy Pancytopenia Leukopenia Cardiomyopathy Choreoathetosis Bone marrow hypocellularity Diabetes mellitus Cellular immunodeficiency Verrucae Bronchiectasis Myelodysplasia Sinusitis Recurrent pneumonia Neutropenia Hyperhidrosis Leukemia Dyspnea Acute leukemia Recurrent sinusitis Hemoptysis Chest pain Respiratory failure Erysipelas Granulocytopenia Macronodular cirrhosis Myeloproliferative disorder Hyperammonemia Visual impairment Abnormal neutrophil count Cataract Hypercoagulability Hyperglycinemia Myopathy Homocystinuria Depressivity Osteoporosis Methylmalonic aciduria Abdominal pain Abnormality of the optic nerve Intracranial hemorrhage Acute myeloid leukemia Cirrhosis Recurrent enteroviral infections Cerebellar atrophy Syndactyly Chronic metabolic acidosis Pallor Scarring Cerebellar hemorrhage Vertigo Hemolytic anemia Methylmalonic acidemia Hematuria Tapered finger Webbed neck Hypotelorism Abnormal globus pallidus morphology Tubulointerstitial abnormality Leukocytosis Prolonged bleeding time Myeloid leukemia Anxiety Recurrent fractures Infertility Stage 5 chronic kidney disease Generalized hypotonia Muscular hypotonia Vomiting Renal insufficiency Tubulointerstitial nephritis Acidosis Abnormality of the kidney Stroke Nephropathy Crohn's disease Metabolic acidosis Macrocytic anemia Coma Postural instability Aciduria Tetraparesis Ischemic stroke Paraparesis Pancreatitis Metrorrhagia Pituitary adenoma Sleep disturbance Hypokalemia Spastic tetraparesis Round face Psychosis Thin skin Nephrolithiasis Generalized hirsutism Organic aciduria Delayed CNS myelination Venous thrombosis Lipodystrophy Adrenal hyperplasia Ketonuria Premature ovarian insufficiency Acne Menorrhagia Truncal obesity Telangiectasia of the skin Generalized hyperpigmentation Aseptic necrosis Bipolar affective disorder Onychomycosis Facial paralysis B lymphocytopenia Macule Papule Gastrointestinal hemorrhage Pulmonary arterial hypertension Abnormal lung morphology Neoplasm of the skin Hemangioma Sarcoma Hypermelanotic macule Abnormal retinal morphology Abnormality of the gastrointestinal tract Encephalopathy Abnormality of the lower limb Lymphoproliferative disorder Abnormality of the spleen Skin nodule Venous insufficiency Generalized lymphadenopathy Skin plaque Susceptibility to herpesvirus Neoplasm by anatomical site Abnormality of the liver Polyclonal elevation of IgM Cognitive impairment Hepatic failure Night sweats Abnormal bleeding Microcytic anemia Hypochromic microcytic anemia Abnormal hemoglobin Reduced alpha/beta synthesis ratio Hemoglobin H Dilatation Respiratory tract infection Chronic infection Impaired lymphocyte transformation with phytohemagglutinin Peripheral neuropathy Pruritus Anorexia Bone pain Osteolysis Hodgkin lymphoma Poor appetite Lung adenocarcinoma Monoclonal immunoglobulin M proteinemia Nystagmus Dysphagia Agammaglobulinemia Decreased antibody level in blood Abnormality of the mitochondrion Bronchospasm Episodic quadriplegia Episodic hemiplegia Hypertelorism High palate Arthritis Malabsorption Sepsis Hepatitis Anhidrosis Recurrent otitis media Chronic diarrhea Meningitis Recurrent bacterial infections Conjunctivitis Encephalitis Osteomyelitis Bronchitis External ear malformation Wheezing Oral-pharyngeal dysphagia Areflexia Chorea Pes cavus Abnormality of the eye Mental deterioration Developmental regression Paralysis Generalized tonic-clonic seizures Abnormality of eye movement Tetraplegia Parkinsonism Esotropia Impulsivity Status epilepticus Hemiparesis Involuntary movements Exotropia Bradycardia Muscle stiffness Abnormal autonomic nervous system physiology Slurred speech Hemiplegia Stridor Metabolic ketoacidosis


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