Immunodeficiency, and Leukoencephalopathy

Diseases related with Immunodeficiency and Leukoencephalopathy

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

Top matches:

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

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

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

Other less relevant matches:

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

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

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Top 5 symptoms//phenotypes associated to Immunodeficiency and Leukoencephalopathy

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Autoimmunity Decreased antibody level in blood Seizures Pneumonia Chronic diarrhea Intellectual disability Hemolytic anemia Splenomegaly Autoimmune hemolytic anemia Recurrent upper respiratory tract infections Hepatitis Recurrent respiratory infections Recurrent bacterial infections Lymphopenia Hepatosplenomegaly Anemia IgA deficiency Sepsis

Rare Symptoms - Less than 30% cases

Wide nasal bridge Purpura Abnormality of the periventricular white matter Encephalitis Recurrent lower respiratory tract infections IgM deficiency Absence of lymph node germinal center Lymphedema Abnormality of the skeletal system Dental malocclusion Respiratory tract infection Bulbous nose Inflammatory abnormality of the skin Hydronephrosis Ventriculomegaly Patent ductus arteriosus Ptosis Decrease in T cell count B lymphocytopenia Abnormal intestine morphology Absent speech Generalized hypotonia Hearing impairment Microcephaly Midface retrusion Long philtrum Behavioral abnormality Autoimmune thrombocytopenia Strabismus Recurrent otitis media Carcinoma Combined immunodeficiency Bronchiectasis Severe combined immunodeficiency Lymphadenopathy Immune dysregulation Cognitive impairment Recurrent skin infections Hepatomegaly Growth delay Intellectual disability, mild Atrial septal defect Short stature Recurrent pneumonia Delayed speech and language development Neutropenia Macrocephaly Macrothrombocytopenia Intestinal lymphangiectasia Flared nostrils Smooth philtrum Eversion of lateral third of lower eyelids Muscular hypotonia Pain High palate Feeding difficulties Motor delay Epicanthus Gait disturbance Increased mean platelet volume Ventricular septal defect Vomiting Abnormality of the dentition Malar flattening Headache Obesity Hyporeflexia Clinodactyly of the 5th finger Constipation Agenesis of corpus callosum Hyperactivity Autism Tremor Renal agenesis Total anomalous pulmonary venous return Unilateral renal agenesis Dandy-Walker malformation Narrow forehead Bilateral sensorineural hearing impairment Exotropia Nevus Progressive microcephaly Widely spaced teeth Tented upper lip vermilion Hypoalbuminemia Sparse eyebrow Proximal placement of thumb Overlapping toe Webbed neck Pericardial effusion Ascites Tapered finger Abnormality of the sternum Highly arched eyebrow Retinal detachment Macrotia Congenital nystagmus Downturned corners of mouth Retinal dysplasia Mild microcephaly Protein-losing enteropathy Anomalous pulmonary venous return Neonatal hypotonia Gastroesophageal reflux Impaired pain sensation Short chin Accelerated skeletal maturation Sacral dimple Abnormality of the outer ear Increased intracranial pressure Poor head control Prominent supraorbital ridges Polycystic kidney dysplasia Large hands Hypoplastic toenails 2-3 toe syndactyly Cellulitis Weak cry Poor eye contact Palpebral edema Pointed chin Arachnoid cyst Bruxism Heat intolerance Concave nasal ridge Delayed CNS myelination Periorbital fullness Episodic vomiting Toenail dysplasia Cerebellar cortical atrophy Hyperorality Tongue thrusting Fulminant hepatic failure Hair-pulling Recurrent pyelonephritis Multicystic kidney dysplasia Cerebral visual impairment Umbilical hernia Unsteady gait EEG abnormality Deeply set eye Synophrys Anxiety Aggressive behavior Intellectual disability, moderate Irritability Abnormality of the pinna Protruding ear Autistic behavior Dolichocephaly Hypermetropia Nausea and vomiting Facial asymmetry Hepatic failure Hypohidrosis Thick eyebrow Thick vermilion border High, narrow palate Sleep disturbance Renal cyst Full cheeks Vesicoureteral reflux Broad-based gait Abnormality of the genital system Renal dysplasia Long eyelashes Nephrolithiasis Tall stature Dental crowding Pulmonic stenosis Reduced visual acuity Short philtrum Anterior rib cupping Abnormality of pelvic girdle bone morphology Malnutrition Increased antibody level in blood B-cell lymphoma Recurrent viral infections Verrucae Allergy Cellular immunodeficiency Increased IgE level Pulmonary insufficiency Cerebral palsy Diffuse mesangial sclerosis Recurrent fungal infections Aplasia of the thymus Chronic lung disease Cortical sclerosis Recurrent opportunistic infections Immunoglobulin IgG2 deficiency Absent tonsils Abnormality of humoral immunity Severe B lymphocytopenia Lack of T cell function Anti-thyroid peroxidase antibody positivity Reduced red cell adenosine deaminase activity Absent specific antibody response Congestive heart failure Dilatation Delayed skeletal maturation Eosinophilia Sinusitis Hypothyroidism Increased IgM level Clumsiness Involuntary movements Otitis media Neurodegeneration Hepatocellular carcinoma IgG deficiency Abnormality of the liver Gingivitis Agammaglobulinemia Cholangitis Stomatitis Chronic hepatitis Dysgammaglobulinemia Sclerosing cholangitis Asthma Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Weight loss Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Hypertension Fever Dysarthria Platyspondyly Diabetes mellitus Osteopenia Abnormal cardiac septum morphology Abnormal heart morphology Sensorineural hearing impairment Abnormal facial shape Cryptorchidism Low-set ears Flexion contracture Bicuspid aortic valve Optic atrophy Downslanted palpebral fissures Absence seizures Hypoplasia of the corpus callosum Cerebellar atrophy Hoarse voice Abnormality of the cerebral white matter Hernia Hypertelorism Hypospadias Clinodactyly Inguinal hernia Cerebellar hypoplasia Posteriorly rotated ears Prominent forehead Upslanted palpebral fissure Cerebral cortical atrophy Choreoathetosis Thin upper lip vermilion Cardiomyopathy Camptodactyly Wide mouth Nystagmus Ataxia Delayed puberty Enterocolitis Eczema Pulmonary arterial hypertension Type I diabetes mellitus Patent foramen ovale Inflammation of the large intestine Thyroiditis Pulmonary embolism Hashimoto thyroiditis Dilatation of the cerebral artery Abnormality of the endocrine system Chronic mucocutaneous candidiasis Villous atrophy Generalized osteoporosis Primary hypothyroidism Scoliosis Antiphospholipid antibody positivity Renovascular hypertension 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 Recurrent urinary tract infections Abnormal lung morphology Respiratory distress


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