Immunodeficiency, and Acute lymphoblastic leukemia

Diseases related with Immunodeficiency and Acute lymphoblastic leukemia

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

Top matches:

Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Other less relevant matches:

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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

B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Acute lymphoblastic leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Acute leukemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Acute lymphoblastic leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Pancytopenia

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Intellectual disability Combined immunodeficiency Lymphoma Myelodysplasia Microcephaly Lymphopenia Splenomegaly Global developmental delay Lymphadenopathy Abnormality of chromosome stability B-cell lymphoma Upslanted palpebral fissure Telangiectasia Leukopenia Hemolytic anemia Abnormality of the nervous system Recurrent respiratory infections Pneumonia Ataxia Myeloid leukemia Severe combined immunodeficiency Hepatomegaly Cellular immunodeficiency B lymphocytopenia Micrognathia Growth delay Epicanthus Decreased antibody level in blood Short stature Seizures

Rare Symptoms - Less than 30% cases

Muscle weakness Bone marrow hypocellularity Lymphedema Neurodegeneration Nystagmus Abnormality of the liver Neurological speech impairment Skeletal muscle atrophy Hypothyroidism Type II diabetes mellitus Otitis media Hearing impairment Respiratory failure Cleft palate Respiratory insufficiency Sensorineural hearing impairment Wide nasal bridge Elevated hepatic transaminase Cerebellar atrophy Leukocytosis Generalized hypotonia Recurrent bronchitis Failure to thrive Fever Intrauterine growth retardation Verrucae Recurrent pneumonia Cutaneous photosensitivity Low anterior hairline Abnormality of the hair Sinusitis Cafe-au-lait spot Bronchiectasis Acute myeloid leukemia Rhabdomyosarcoma Edema T-cell lymphoma Non-Hodgkin lymphoma Lymphoproliferative disorder Brachycephaly Small for gestational age Telangiectasia of the skin Hypospadias Amenorrhea Fatigue Granulocytopenia Aspiration Hodgkin lymphoma Bruising susceptibility Depressed nasal bridge Primary amenorrhea Neutropenia Cryptorchidism Short neck Chronic lymphatic leukemia Recurrent fungal infections Aplasia/Hypoplasia of the thymus Macronodular cirrhosis Abnormality of the skeletal system Increased sensitivity to ionizing radiation Female hypogonadism Aplastic anemia Recurrent viral infections Delayed speech and language development Abnormal natural killer cell morphology Chronic myelomonocytic leukemia Panniculitis Neoplasm of the breast Chronic hepatitis Recurrent mycobacterium avium complex infections Decreased proportion of CD4-positive T cells Abnormal spermatogenesis Alveolar proteinosis Severe viral infections Elevated alpha-fetoprotein Monocytopenia Hemoglobin H Immunoglobulin IgG2 deficiency Mucosal telangiectasiae Lung adenocarcinoma Autoimmunity Reduced alpha/beta synthesis ratio Abnormal hemoglobin Erysipelas Systemic lupus erythematosus Rheumatoid arthritis Hypochromic microcytic anemia Microcytic anemia Abnormal bleeding Clinodactyly of the 5th finger Lymphocytosis Dyspnea Severe sensorineural hearing impairment Hypertension Nephrotic syndrome Pulmonary arterial hypertension Recurrent otitis media Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Spontaneous abortion Arthritis Venous thrombosis Progressive spinal muscular atrophy Hyperthyroidism Hypertonia Telecanthus Hemophagocytosis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration Increased total bilirubin Partial albinism Increased LDL cholesterol concentration Histiocytosis Plasmacytosis Prolonged prothrombin time Cellulitis Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Increased serum ferritin Polyneuritis Lipogranulomatosis Pulmonary infiltrates Hematuria Prolonged bleeding time Chronic otitis media Intracranial hemorrhage Hypotelorism Webbed neck Migraine Tapered finger Cirrhosis Abnormal natural killer cell physiology Vertigo Nausea and vomiting Scarring Pallor Weight loss Visual loss Syndactyly Increased CSF protein Episodic fever Erythema Muscular hypotonia Hepatic failure Confusion Skin rash Irritability Hepatosplenomegaly Jaundice Encephalopathy Large beaked nose Chronic myelogenous leukemia Bird-like facies Abnormality of bone marrow cell morphology Biparietal narrowing Psoriasiform dermatitis Hypoplasia of penis Thin vermilion border Malabsorption Coma Sepsis Increased antibody level in blood Encephalitis Hypercoagulability Abnormality of the coagulation cascade Abnormality of the optic nerve Albinism Hyponatremia Hemiplegia Hypoalbuminemia Eosinophilia Gliosis Increased intracranial pressure Purpura Hyperbilirubinemia Meningitis Myeloproliferative disorder Hypertriglyceridemia Peripheral demyelination Tetraplegia Intention tremor Conjunctival telangiectasia Diarrhea Mental deterioration Intellectual disability, moderate Hydronephrosis Retrognathia Macrotia Hyperactivity Hypodysplasia of the corpus callosum Prominent nasal bridge Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Attention deficit hyperactivity disorder Anal atresia Severe intrauterine growth retardation Deep philtrum Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Cleft upper lip Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Choanal atresia Sloping forehead Convex nasal ridge Prominent nose Multiple renal cysts Bifid scrotum Neuroblastoma Hydrocephalus Cerebellar hypoplasia Clinodactyly Midface retrusion Malar flattening Long philtrum Short nose Anteverted nares Posteriorly rotated ears Ventriculomegaly Low-set ears Cataract Abnormal facial shape Hypertelorism Recurrent bacterial infections Polyhydramnios Agenesis of corpus callosum Micropenis Nephroblastoma Dandy-Walker malformation Limb-girdle muscular dystrophy Sarcoma Hyperpigmentation of the skin Intellectual disability, profound Ambiguous genitalia Oligohydramnios Generalized myoclonic seizures High forehead Renal cyst Wide nose Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Postnatal growth retardation Feeding difficulties in infancy Autoimmune hemolytic anemia Anal stenosis Hypoplasia of the thymus Abnormal vertebral morphology Slurred speech Breast carcinoma Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Truncal ataxia Limb ataxia Spinal muscular atrophy Choreoathetosis Apraxia Hepatitis Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Polycystic ovaries Athetosis Distal amyotrophy Hepatocellular carcinoma Absent Achilles reflex Spinocerebellar tract degeneration Abnormality of the testis Renal neoplasm Chromosome breakage Recurrent lower respiratory tract infections Hypopigmentation of hair Glucose intolerance IgA deficiency Prematurely aged appearance Abnormality of the immune system Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Polyneuropathy Unsteady gait Hearing abnormality Anorectal anomaly Scoliosis Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Recurrent infection of the gastrointestinal tract Spasticity Pollakisuria Decrease in T cell count Abnormal hair quantity Glioma Medulloblastoma Recurrent sinopulmonary infections Abnormal eyelid morphology Strabismus Cognitive impairment Abnormality of movement Difficulty walking Abnormality of eye movement Delayed puberty Distal muscle weakness Respiratory tract infection Anxiety Carcinoma Gait ataxia Flexion contracture Diabetes mellitus Myoclonus Dystonia Gait disturbance Tremor Dysarthria Peripheral neuropathy Abnormal neutrophil count


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Weight loss, related diseases and genetic alterations Microphthalmia and Leukoencephalopathy, related diseases and genetic alterations Hydrocephalus and Hypothyroidism, related diseases and genetic alterations